Homepage Retina International Scientific Newsletter

Retina International		Scientific Newsletter
Contact the Editor	DATABASES Mutation Databases G-Protein-coupled Receptor 143 (GPR143)	Recent update from: 16.05.2010 This site is maintained and edited by Dr. rer. medic. Markus Preising, Dipl.Biol. Laboratory of Molecular Ophthalmology Department of Opthalmology Justus-Liebig-University, Giessen, Germany Head: Prof. Dr. med. Birgit Lorenz
Mutation Map NCBI GenBank: 4935 - Gen Map (Built: GRCH37): 9693453-9733916	The sequence data are adjusted to a sequence given in a WORD file which can be downloaded here. Nucleotides are counted from the first nucleotide of the starting Methionine codon according to Schiaffino et al. (1995).
Phenotype	Mutation	Basechange	Codon (Nucleotide)	Exon	Restriction site	HGMD / dbSNP	OMIM	Remarks	Reference
OA1	Group I							Wild type glycosylation Cytoplasmic vesicular distribution concentration in the perinuclear area spreading towards periphery Co-localization with lysosomal markers	(4)
OA1	Group II							Fine reticular distribution Heavy staining of the nuclear membrane Protein accumulation in ER May affect correct folding Prevent proper glycosylation	(4)
Polymorphism	c.-251c>t	ccc tc>cct tc	0000 (c.-0251)	5'UTR					(21)
OA1	Exon 1-8 incl. Del		001 (c.0001)	1		HGMD listed		Patients: BCM-XL-266-02	(1)
OA1	Exon 1-2 incl. Del		001 (c.0001)	1				Patients: Chinese	(27)
OA1	Deletion Exon 1	4800bp del	001 (c.0001)	1		HGMD listed		Patients: RG	(1)
OA1	Deletion Exon 1		001 (c.0001)	1		HGMD listed		Patients: OAP-12, OAP-31, OAP-25,	(23)
OA1	Exon 1-8 incl. Del		001 (c.0001)	1					(2)
OA1	Full gene del	800 bp deletion	001 (c.0001)	1					(24)
OA1	Arg 5 Cys	CGC>TGC	005 (c.0013)	1	-CfoI	HGMD listed		Defective glycosylation Reduced yield ER retention Missense Group II	(4) (1) (17)
OA1	His 30 Asp	CAC>GAC	030 (c.0088)	1	+TaqI				(17)
OA1	Gly 35 Asp	GGC>GAC	035 (c.0104)	1		HGMD listed rs62635018	V: 08	Defective glycosylation Reduced yield ER retention Missense GroupII	(22) (4) (1)
OA1	Leu 39 Arg	CTC>CGC	039 (c.0116)	1		HGMD listed		Missense	(14) (19)
OA1	c.151delGGCCGCC	CCC GGC CGC CGG CCC GCG >CCC ___ ___ _GG CCC GCG	051 (c.0151)	1				Previously reported as c.211del7bp Micro Deletion Patients: France	(1) (7)
NYS6	c.161del37bp	CGG CCC GCG GGC CCC GGG TCC CCC GCG ACG TCC CCG CCG GCC TCG GTC>CGG C__ ___ ___ ___ ___ ___ ___ ___ ___ ___ ___ ___ ___ _CG GTC	054 (c.0161)	1			V: 11	Reported as c.222_258del37 Patients: Chinese	(28)
OA1	c.163dupGCGGGCCCC	CCC GCG GGC CCC GGG>CCC GCG GGC CCG CGG GCC CCG GG	055 (c.0163)	1				Patients: French, sporadic	(12)
OA1	c.165del29bp	GCG GGC CCC GGG TCC CCC GCG ACG TCC CCG CCG>G__ ___ ___ ___ ___ ___ ___ ___ ___ ___ CCG	055 (c.0165)	1	-TaaI				(14) (20) (17)
OA1	c.175delT	GGG TCC>GGG _CC	059 (c.0175)	1		HGMD listed		Previously reported as c.235delT Micro Deletion	(1)
OA1	c.175insC	GGG TCC CCC GCG>GGG TCC CCC CGC G	059 (c.0175)	1		HGMD listed		Previously reported as c.180insC Micro Deletion	(1)
OA1	c.191delC	ACG TCC CCG CCG>ACG TCC C_G CCG	064 (c.0191)	1				reported as c.250delC	(8)
OA1	c.195delCCGG	TCC CCG CCG GCC TCG>TCC CCG CC_ ___ TCG	065 (c.0195)	1				reported as c.252del4bp Micro Deletion	(7)
OA1	c.215del17bp	CTG CGC GCT GCC GCT GCC TGC GAC>CTG C__ ___ ___ ___ ___ ___ GAC	071 (c.0215)	1		HGMD listed	V: 02	Previously reported as c.275del17bp Deletion Patients: OAP-9	(22) (23) (1)
OA1	c.222del37bp	GCT GCC GCT GCC TGC GAC CTT CTC GGC TGC CTG G gtaag ggcgc>GCT GC_ ___ ___ ___ ___ ___ ___ ___ ___ ___ _ _____ __cgc	074 (c.0222)	2					(28)
NYS6	c.231dup19bp	TGC GAC CTT CTC GGC TGC CTG G gtaag>TGC GAC CTT CTC GGC TGC CTG CGA CCT TCT CGG CTG CCT GG gtaag	075 (c.0231)	1			V: 12	Reported as c.201-309dup19 Patients: Chinese	(15)
OA1	Asp 78 Asn	GAC>AAC	078 (c.0232)	1		HGMD listed		Defective glycosylation Reduced yield ER retention No IR in human melanocytes Missense Group II	(4) (1) (7)
OA1	Asp 78 Val	GAC>GTC	078 (c.0233)	1		HGMD listed		Missense	(14) (19)
OA1	c.237delTCT	CTT CTC GGC>CT_ __C GGC	079 (c.0237)	1					(5)
OA1	Gly 81 Val	GGC>TGC	081 (c.0241)	1				Patients: French, familiar	(12)
OA1	Deletion Exon 2		084 (c.0250)	2		HGMD listed		Micro Deletion Patients: OAP-17, OAP-22	(23)
OA1	Gly 84 Arg	GGT>CGT	084 (c.0250)	2	-BstNI	HGMD listed		Missense Patients: OAP-30	(23)
OA1	Deletion Exon 2 - 8		084 (c.0250)	2		HGMD listed		Micro Deletion Patients: OAP-14, OAP-21, OAP-23, OAP-24, OAP-27, OAP-33	(23) (9) (7)
OA1	Deletion Exon 2 - 8		084 (c.0250)	2				Micro Deletion Patients: BCM-XL-291-02, BCM-XL-293-02	(1)
OA1	Deletion Exon 2	900bp del	084 (c.0250)	IVS1		HGMD listed		Micro Deletion Patients: BCM-XL-277-01	(22) (1) (7)
OA1	Deletion IVS1 - Exon 2	200bp del	084 (c.0250)	IVS1				Micro Deletion Patients: BA404	(22) (1)
OA1	Deletion Exon 2	1000bp del	084 (c.0250)	IVS1		HGMD listed		Micro Deletion Patients: BA390	(22) (1)
OA1	Deletion IVS1 - IVS2	3100bp del	084 (c.0250)	IVS1		HGMD listed		Micro Deletion Patients: BA204	(22) (1)
SNP	c.251delG	cttag GT ATG>cttag _T ATG	084 (c.0251)	1		rs34876833			dbSNP
OA1	Deletion Exon 2	g.5360_6371del1012	084 (c.0251)	2				Patients: Italian	(13)
OA1	Gly 84 Asp	GGT>GAT	084 (c.0251)	2		HGMD listed		Defective glycosylation Reduced yield ER retention Splice Site Mutation Group II Patients: French	(22) (4) (1) (3) (7)
OA1	IVS1-1g>c	tag GT>tac GT	084 (c.0251)	IVS1	+SnaBI	HGMD listed		Splice Site Mutation Patients: OAP-7	(23)
OA1	Ser 89 Phe	TCC>TTC	089 (c.0266)	2			V: 09		(11)
OA1	c.268delACC	TCC ACC GTG>TCC ___ GTG	090 (c.0268)	2					(17)
OA1	c.310delG	TCG GAT>TCG _AT	104 (c.0310)	2		rs34876833			(14) (19) (6)
OA1	Trp 111 ter	TGG>TGA	111 (c.0333)	2	-HaeIII				(17)
OA1	c.336insC	TGG CCT>TGG CCC T	112 (c.0336)	2					(17)
OA1	Cys 116 Ser	TGC>TCC	116 (c.0346)	2		HGMD listed		Defective glycosylation Reduced yield ER retention Missense Group II	(4) (1)
OA1	Cys 116 Arg	TGC>CGC	116 (c.0346)	2	+BstUI	HGMD listed		Missense Patients: OAP-26	(23)
OA1	Cys 116 Gly	TGC>GGC	116 (c.0346)	2					(8)
OA1	Cys 116 Trp	TGC>TGT	116 (c.0348)	2				Patients: Canadian, sporadic	(12)
OA1	Gly 118 Glu	GGG>GAG	118 (c.0353)	2		HGMD listed		Defective glycosylation Reduced yield ER retention Missense Group II Patients: OAP-8	(23) (4) (1) (5)
OA1	Ala 120 Ala	GCG gtg>GCA gtg	120 (c.0360)	2		HGMD listed	V: 07		(14) (19)
Polymorphism	IVS2+13c>g	cccct>ccgct	120 (c.0360)	IVS2					(19)
OA1	IVS2+5g>c	gagtc>gactc	120 (c.0360)	IVS2		HGMD listed		Splice Site Mutation	(22) (1)
OA1	Deletion Exon 3	1172bp del	121 (c.0361)	3		HGMD listed		Patients: BCM-XL-318-02	(1)
OA1	Gln 124 Arg	CAG>CGG	124 (c.0371)	2		HGMD listed		Full glycosylation Lysosomal Wild type yield Missense Group I	(4) (1)
OA1	Trp 132 Arg	TGG>CGG	132 (c.0394)	3					(18)
OA1	Trp 133 Arg	TGG>CGG	133 (c.0397)	3	+HpaII, + MspI	HGMD listed	V: 03	Defective glycosylation Reduced yield ER retention Missense Group II Patients: OAP-11, OAP-20	(23) (4)
OA1	Trp 133 Arg	TGG>AGG	133 (c.0397)	3		HGMD listed	V: 06	Missense	(14) (19)
SNP	c.399insG	TGG CTG>TG_ CTG	133 (c.399)	3		rs35528779			dbSNP
OA1	Leu 134 Pro	GGC>GAC	134 (c.0401)	3				Patients: Canadian	(3) (12)
OA1	c.402delG	CTG TTT>CT_ TTT	134 (c.0402)	3		HGMD listed		Previously reported as c.462delG Patients: OAP-32	(23)
OA1	Ala 138 Val	GCA>GTA	138 (c.0413)	3	-MwoI	HGMD listed		Full glycosylation Lysosomal Wild type yield Missense Group I Patients: OAP-1	(23) (4)
SNP	Arg 147 Lys	AGA>AAA	147 (c.440)	3		rs58068096			dbSNP
OA1	c.445insAGATCGG	TCG GCA GGA>TCG GAG ATC GGC AGG A	149 (c.0445)	3	+Sau3AI, +MboI, +DpnI, +DpnII	HGMD listed		Previously reported c.505ins7bp	(22) (1)
OA1	Ser 152 Asn	AGC>AAC	152 (c.0455)	3	-DdeI	HGMD listed	V: 04	Full glycosylation Lysosomal Wild type yield Splice Site Mutation Group I Patients: OAP-26	(23) (4)
OA1	IVS3+1g>c	AG gta>AG cta	152 (c.0455)	IVS 3		HGMD listed		reported as c.515g>c	(1) (7)
OA1	Deletion IVS3 - IVS8		152 (c.0455)	IVS3		HGMD listed		Patients: BA460	(22) (1)
OA1	Deletion Exon 4		152 (c.0456)	4		HGMD listed		Patients: OAP-6, OAP-19	(23)
OA1	Deletion Exon 4 - 5		152 (c.0456)	4		HGMD listed		Patients: OX1	(1)
OA1	Gly 163 Asp	GGC>GAC	163 (c.0488)	4				Patients: French	(3)
OA1	Thr 166 Asn	ACC>AAC	166 (c.0497)	4				Patients: French, sporadic	(12)
OA1	c.504delTC	CTG CTC TGT >CTG CT_ _GT	168 (c.0504)	4				Patients: French, sporadic	(12)
OA1	Ala 173 Asp	GCC>GAC	173 (c.0518)	4	-NlaIV, -Fmu4HI, +HgaI, +AhaII, +BsmAI	HGMD listed		Defective glycosylation Reduced yield ER retention Missense Group II	(22) (4) (1)
OA1	IVS4+2t>a	AG gtaa>AG gaaa	183 (c.0548)	IVS4				Patients: Canadian, sporadic	(12)
OA1	Glu 185 Lys	GAG>AAG	185 (c.0553)	5					(18)
OA1	c.556insC	GAG CGG>GAG CCG G	186 (c.0556)	5					(18)
OA1	Arg 186 Trp	CGG>TGG	186 (c.0556)	5					(18)
OA1	Arg 186 Pro	CGG>CCG	186 (c.0557)	5					(18)
OA1	c.564delCT	GGC CTG>GGC __G	188 (c.0564)	5				Patients: Italian	(13)
SNP	His 190 His	CAC>CAT	190 (c.0570)	5		rs61733440			dbSNP
SNP	His 190 Gln	CAC>CAA	190 (c.0570)	5		rs61733440			dbSNP
SNP	His 190 His	CAC>CAG	190 (c.0570)	5		rs61733440			dbSNP
OA1	c.601insT	CTG CCC CTG>CTG TCC CCTG	201 (c.0601)	5				Patients: Canadian, sporadic	(12)
OA1	del gene	g.1103-g.7266 (6164 bp)	211 (c.0361)	2					(5)
OA1	Gln 214 ter	CAA>TAA	214 (c.0640)	7					(10)
OA1	IVS5+1g>a	GCA G gtaa>GCA G ataa	220 (c.0658)	IVS5					(5)
OA1	Deletion Exon 6		220 (c.660)	6					(6)
OA1	c.677delG	AAA GGA>AAA G_A	226 (c.0677)	6		HGMD listed		Previously reported as c.737delG	(1) (7) (18)
OA1	Gly 229 Val	GGC>GTC	229 (c.0686)	6		HGMD listed		Full glycosylation Lysosomal Wild type yield Missense Group I	(4) (1) (17)
OA1	Thr 232 Lys	ACG>AAG	232 (c.0695)	6		HGMD listed	V: 05	Full glycosylation Lysosomal Wild type yield Missense Group II Patients: OAP-28	(23) (4)
OA1	Glu 233 Lys	GAG>AAG	233 (c.0697)	6				Missense	(14) (19)
OA1	Glu 235 Lys	GAG>AAG	235 (c.0705)	6		HGMD listed		Full glycosylation Lysosomal Wild type yield Missense Group I Patients: OAP-35	(23) (4)
OA1	c.720delG	GGA GCC>GGA _CC	240 (c.0720)	6	-NlaIV				(18) (17)
OA1	Ile 244 Val	ATC>GTC	244 (c.0730)	6		HGMD listed		Full glycosylation Lysosomal Wild type yield Has been reported as I244K Missense Group I	(1) (4) (7)
OA1	Arg 245 ter	CGA>TGA	245 (c.0735)	6	-AlwI	HGMD listed		Patients: OAP-10 Canadian	(23) (1) (3) (7) (17)
OA1	c.756del14bp	CTG GTT TTA ATT ATT TG gtaac>CTG GT_ ___ ___ ___ __ __aac	252 (c.0756)	6	-Tsp509I			Previously reported as c.816del14bp Patients: 074	(16)
Polymorphism	IVS6+10c>g	ttc tt>ttg tt	256 (c.0767)	IVS6					(21)
OA1	Deletion Exon 7 - 8		256 (c.0768)	7					(6)
OA1	del exon 7		256 (c.0768)	exon 7					(17)
OA1	IVS6-2delagTT	aacag T TGG>aac__ _ _GG	256 (c.0768)	IVS6					(17)
OA1	Ile 261 Asn	ATC>AAC	261 (c.0779)	6		HGMD listed		Defective glycosylation Reduced yield ER retention Missense Group II	(4) (1)
OA1	Asn 263 Lys	AAT>AAG	263 (c.0789)	7					(17)
OA1	Glu 271 Gly	GAG>GGG	271 (c.0812)	7		HGMD listed		Full glycosylation Lysosomal Wild type yield Missense Group I	(4) (1)
OA1	Ile 276 Val	ATC>AGC	276 (c.0827)	7	-EcoRV		V: 10	associated with G312V	(17)
OA1	c.849delT	CCT GTC>CC_ GTC	283 (c.0849)	7					(5)
OA1	Arg 285 ter	GGC>GAC	285 (c.0853)	6				Patients: Canadian	(3) (12)
OA1	c.868delACC	AAG ACC ACA>AAG ___ ACA	290 (c.0868)	7		HGMD listed		Previously reported as Thr 290 del Defective glycosylation Reduced yield ER retention Deletion	(22) (4) (1)
OA1	Trp 292 Gly	TGG>GGG	292 (c.0874)	7	-NlaIII	HGMD listed		Defective glycosylation Reduced yield ER retention Missense Group II	(22) (4) (1)
OA1	Trp 292 Cys	TGG>TGT	292 (c.0876)	7		HGMD listed		Micro Deletion	(1) (7)
OA1	Trp 292 ter	TGG>TGA	292 (c.0876)	7		HGMD listed			(1)
OA1	IVS7-2a>t	ccag GT>cctg GT	292 (c.0886)	IVS7				Micro Deletion Patients: Canadian, sporadic	(12)
OA1	IVS7+1g>a	ATG gta>ATG cta	294 (c.0885)	IVS 7		HGMD listed		Previously reported as 945+1g-a Micro Deletion	(1)
OA1	IVS2+748g>a		294 (c.0885)	IVS7					(25)
OA1	del gene	g.25985-g.26546 (562 bp)	296 (c.0886)	8					(5)
OA1	c.932insCG	TAC GGC>TAC CGG GC	311 (c.0932)	8	-BceFI, +Fnu4HI, +BstUI	HGMD listed rs62635047	V: 01	Previously reported as c.992insCG Insertion	(22) (1)
OA1	Tyr 311 ter	TAC>TAG	311 (c.0933)	7					(18)
OA1	Gly 312 Val	GGC>GTC	312 (c.0935)	8	+Hpy188III			associated with G312V	(17)
OA1	Gly 315 ter	GGA>TGA	315 (c.0943)	8					(26)
SNP	Met 346 Val	ATG>GTG	346 (c.1036)	7		rs34324958			dbSNP
Polymorphism	c.1349c>t	c>t	404 (c.1349)	3'UTR				reported c.1409c>t	(19)

References: Bassi,M.T., Bergen,A.A., Bitoun,P., Charles,S.J., Clementi,M., Gosselin,R., Hurst,J., Lewis,R.A., Lorenz,B., Meitinger,T., Messiaen,L., Ramesar,R.S., Ballabio,A., and Schiaffino,M.V. Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America. 2001; Hum.Genet. 108: 51-54. Goto Top Burns,W.N., Schiaffino,M.V., and Lewis,R.A. Repeated transmission of X-linked ocular albinism type 1 by a carrier oocyte donor. 1998; Fertil.Steril. 70: 1169-1172. Goto Top Camand,O., Boutboul,S., Arbogast,L., Roche,O., Sternberg,C., Sutherland,J., Levin,A., Heon,E., Menasche,M., Dufier,J., and Abitbol,M. Mutational analysis of the OA1 gene in ocular albinism. 2003; Ophthalmic Genet. 24: 167-173. Goto Top d'Addio,M., Pizzigoni,A., Bassi,M.T., Baschirotto,C., Valetti,C., Incerti,B., Clementi,M., De Luca,M., Ballabio,A., and Schiaffino,M.V. Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1. 2000; Hum.Mol.Genet. 9: 3011-3018. Goto Top Fang,S., Guo,X., Jia,X., Xiao,X., Li,S., and Zhang,Q. Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism. 2008; Mol.Vis. 14:1974-82. Epub@2008 Oct 30.: 1974-1982. Goto Top Faugere,V., Tuffery-Giraud,S., Hamel,C., and Claustres,M. Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay. 2003; BMC.Genet. 4: 7 Goto Top Hegde,M., Lewis,R.A., and Richards,C.S. Diagnostic DNA testing for X-linked ocular albinism (OA1) with a hierarchical mutation screening protocol. 2002; Genet Test. 6: 7-14. Goto Top Iannaccone,A., Tedesco,S.A., Gallaher,K.T., Yamamoto,H., Charles,S., and Dryja,T.P. Fundus albipunctatus in a 6-year old girl due to compound heterozygous mutations in the RDH5 gene. 2007; Doc.Ophthalmol. 115: 111-116. Goto Top Lam,B.L., Fingert,J.H., Shutt,B.C., Singleton,E.M., Merin,L.M., Brown,H.H., Sheffield,V.C., and Stone,E.M. Clinical and molecular characterization of a family affected with X-linked ocular albinism (OA1). 1997; Ophthalm.Genet. 18: 175-184. Goto Top Lauronen,L., Jalkanen,R., Huttunen,J., Carlsson,E., Tuupanen,S., Lindh,S., Forsius,H., Sankila,E.M., and Alitalo,T. Abnormal crossing of the optic fibres shown by evoked magnetic fields in patients with ocular albinism with a novel mutation in the OA1 gene. 2005; Br.J.Ophthalmol. 89: 820-824. Goto Top Liu,S., Li,P., Dybkov,O., Nottrott,S., Hartmuth,K., Luhrmann,R., Carlomagno,T., and Wahl,M.C. Binding of the human Prp31 Nop domain to a composite RNA-protein platform in U4 snRNP. 2007; Science. 316: 115-120. Goto Top Mayeur,H., Roche,O., Vetu,C., Jaliffa,C., Marchant,D., Dollfus,H., Bonneau,D., Munier,F.L., Schorderet,D.F., Levin,A.V., Heon,E., Sutherland,J., Lacombe,D., Said,E., Mezer,E., Kaplan,J., Dufier,J.L., Marsac,C., Menasche,M., and Abitbol,M. Eight previously unidentified mutations found in the OA1 ocular albinism gene. 2006; BMC.Med.Genet. 7:41.: 41 Goto Top Micale,L., Augello,B., Fusco,C., Turturo,M.G., Granatiero,M., Piemontese,M.R., Zelante,L., Cecconi,A., and Merla,G. GPR143 mutational analysis in two Italian families with X-linked ocular albinism. 2009; Genet.Test.Mol.Biomarkers. 13: 527-531. Goto Top Oetting,W.S. New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene. 2002; Hum Mutat. 19: 85-92. Goto Top Peng,Y., Meng,Y., Wang,Z., Qin,M., Li,X., Dian,Y., and Huang,S. A novel GPR143 duplication mutation in a Chinese family with X-linked congenital nystagmus. 2009; Mol.Vis. 15:810-4. Epub@2009 Apr 22.: 810-814. Goto Top Preising,M., op de Laak,J.P., and Lorenz,B. Deletion in the OA1 gene in a family with congenital X linked nystagmus. 2001; Br.J.Ophthalmol. 85: 1098-1103. Goto Top Preising,M.N., Forster,H., Gonser,M., and Lorenz,B. Mutations screening of TYR, OCA2, GPR143, and MC1R in Patients Identified by Congenital Nystagmus, Macular Hypoplasia and Hypopiogmentatof the Fundus; the Classical Features of Ocular and Oculocutaneous Albinism. 2010; submitted. Goto Top Roma,C., Ferrante,P., Guardiola,O., Ballabio,A., and Zollo,M. New mutations identified in the ocular albinism type 1 gene. 2007; Gene. 402: 20-27. Goto Top Rosenberg,T. and Schwartz,M. X-linked ocular albinism: prevalence and mutations--a national study. 1998; Eur.J.Hum.Genet. 6: 570-577. Goto Top Rudolph,G., Meindl,A., Bechmann,M., Schworm,H.D., Achatz,H., Boergen,K.P., Kampik,A., Berninger,T., and Meitinger,T. X-linked ocular albinism (Nettleship-Falls): a novel 29-bp deletion in exon 1. Carrier detection by ophthalmic examination and DNA analysis. 2001; Graefes Arch.Clin.Exp.Ophthalmol. 239: 167-172. Goto Top Sallmann,G.B., Bray,P.J., Rogers,S., Quince,A., Cotton,R.G., and Carden,S.M. Scanning the ocular albinism 1 (OA1) gene for polymorphisms in congenital nystagmus by DHPLC. 2006; Ophthalmic Genet. 27: 43-49. Goto Top Schiaffino,M.V., Bassi,M.T., Galli,L., Renieri,A., Bruttini,M., Denigris,F., Bergen,A.A.B., Charles,S.J., Yates,J.R.W., Meindl,A., Lewis,R.A., King,R.A., Ballabio,A., De Nigris,F., and Yates,J.R. Analysis of the OA1 gene reveals mutations in only one third of patients with X-linked ocular albinism. 1995; Hum.Mol.Genet. 4: 2319-2325. Goto Top Schnur,R.E., Gao,M., Wick,P.A., Keller,M., Benke,P.J., Edwards,M.J., Grix,A.W., Hockey,A., Jung,J.H., Kidd,K.K., Kistenmacher,M., Levin,A.V., Lewis,R.A., Musarella,M.A., Nowakowski,R.W., Orlow,S.J., Pagon,R.S., Pillers,D.A., Punnett,H.H., Quinn,G.E., Tezcan,K., Wagstaff,J., and Weleber,R.G. OA1 mutations and deletions in X-linked ocular albinism. 1998; Am.J.Hum.Genet. 62: 800-809. Goto Top Tijmes,N.T., Bergen,A.B., and de Jong,P.T. Paucity of signs in X linked ocular albinism with a 700 kb deletion spanning the OA1 gene. 1998; Br.J.Ophthalmol. 82: 457-458. Goto Top Vetrini,F., Tammaro,R., Bondanza,S., Surace,E.M., Auricchio,A., De,L.M., Ballabio,A., and Marigo,V. Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides. 2006; Hum.Mutat. 27: 420-426. Goto Top Wang,Y., Guo,X., Wei,A., Zhu,W., Li,W., and Lian,S. Identification of a novel mutation in a Chinese family with X-linked ocular albinism. 2009; Eur.J.Ophthalmol. 19: 124-128. Goto Top Xiao,X. and Zhang,Q. Iris hyperpigmentation in a Chinese family with ocular albinism and the GPR143 mutation. 2009; Am.J.Med.Genet.A. 149A: 1786-1788. Goto Top Zhou,P., Wang,Z., Zhang,J., Hu,L., and Kong,X. Identification of a novel GPR143 deletion in a Chinese family with X-linked congenital nystagmus. 2008; Mol.Vis. 14:1015-9.: 1015-1019. Goto Top
Return to Retina International's Scientific Newsletter	Return to Group page	Return to pagehead

Retina

International

Scientific

Newsletter

Contact the Editor

DATABASES

Mutation Databases

G-Protein-coupled Receptor 143 (GPR143)

Recent update from: 16.05.2010

This site is maintained and edited by
Dr. rer. medic. Markus Preising, Dipl.Biol.
Laboratory of Molecular Ophthalmology
Department of Opthalmology
Justus-Liebig-University, Giessen, Germany
Head: Prof. Dr. med. Birgit Lorenz

Mutation Map

NCBI GenBank: 4935 - Gen Map (Built: GRCH37): 9693453-9733916

The sequence data are adjusted to a sequence given in a WORD file which can be downloaded here. Nucleotides are counted from the first nucleotide of the starting Methionine codon according to Schiaffino et al. (1995).

Phenotype

Mutation

Basechange

Codon (Nucleotide)

Exon

Restriction site

HGMD / dbSNP

OMIM

Remarks

Reference

OA1

Group I

Wild type glycosylation

Cytoplasmic vesicular distribution

concentration in the perinuclear area spreading towards periphery

Co-localization with lysosomal markers

(4)

OA1

Group II

Fine reticular distribution

Heavy staining of the nuclear membrane

Protein accumulation in ER

May affect correct folding

Prevent proper glycosylation

(4)

Polymorphism

c.-251c>t

ccc tc>cct tc

0000 (c.-0251)

5'UTR

(21)

OA1

Exon 1-8 incl. Del

001 (c.0001)

HGMD listed

Patients: BCM-XL-266-02

(1)

OA1

Exon 1-2 incl. Del

001 (c.0001)

Patients: Chinese

(27)

OA1

Deletion Exon 1

4800bp del

001 (c.0001)

HGMD listed

Patients: RG

(1)

OA1

Deletion Exon 1

001 (c.0001)

HGMD listed

Patients: OAP-12, OAP-31, OAP-25,

(23)

OA1

Exon 1-8 incl. Del

001 (c.0001)

(2)

OA1

Full gene del

800 bp deletion

001 (c.0001)

(24)

OA1

Arg 5 Cys

CGC>TGC

005 (c.0013)

-CfoI

HGMD listed

Defective glycosylation

Reduced yield

ER retention
Missense
Group II

(4)

(1)

(17)

OA1

His 30 Asp

CAC>GAC

030 (c.0088)

+TaqI

(17)

OA1

Gly 35 Asp

GGC>GAC

035 (c.0104)

HGMD listed

rs62635018

V: 08

Defective glycosylation

Reduced yield

ER retention
Missense
GroupII

(22)

(4)

(1)

OA1

Leu 39 Arg

CTC>CGC

039 (c.0116)

HGMD listed

Missense

(14)

(19)

OA1

c.151delGGCCGCC

CCC GGC CGC CGG CCC GCG >CCC ___ ___ _GG CCC GCG

051 (c.0151)

Previously reported as c.211del7bp
Micro
Deletion
Patients: France

(1)

(7)

NYS6

c.161del37bp

CGG CCC GCG GGC CCC GGG TCC CCC GCG ACG TCC CCG CCG GCC TCG GTC>CGG C__ ___ ___ ___ ___ ___ ___ ___ ___ ___ ___ ___ ___ _CG GTC

054 (c.0161)

V: 11

Reported as c.222_258del37
Patients: Chinese

(28)

OA1

c.163dupGCGGGCCCC

CCC GCG GGC CCC GGG>CCC GCG GGC CCG CGG GCC CCG GG

055 (c.0163)

Patients: French, sporadic

(12)

OA1

c.165del29bp

GCG GGC CCC GGG TCC CCC GCG ACG TCC CCG CCG>G__ ___ ___ ___ ___ ___ ___ ___ ___ ___ CCG

055 (c.0165)

-TaaI

(14)

(20)

(17)

OA1

c.175delT

GGG TCC>GGG _CC

059 (c.0175)

HGMD listed

Previously reported as c.235delT
Micro
Deletion

(1)

OA1

c.175insC

GGG TCC CCC GCG>GGG TCC CCC CGC G

059 (c.0175)

HGMD listed

Previously reported as c.180insC
Micro
Deletion

(1)

OA1

c.191delC

ACG TCC CCG CCG>ACG TCC C_G CCG

064 (c.0191)

reported as c.250delC

(8)

OA1

c.195delCCGG

TCC CCG CCG GCC TCG>TCC CCG CC_ ___ TCG

065 (c.0195)

reported as c.252del4bp
Micro
Deletion

(7)

OA1

c.215del17bp

CTG CGC GCT GCC GCT GCC TGC GAC>CTG C__ ___ ___ ___ ___ ___ GAC

071 (c.0215)

HGMD listed

V: 02

Previously reported as c.275del17bp
Deletion
Patients: OAP-9

(22)

(23)

(1)

OA1

c.222del37bp

GCT GCC GCT GCC TGC GAC CTT CTC GGC TGC CTG G gtaag ggcgc>GCT GC_ ___ ___ ___ ___ ___ ___ ___ ___ ___ _ _____ __cgc

074 (c.0222)

(28)

NYS6

c.231dup19bp

TGC GAC CTT CTC GGC TGC CTG G gtaag>TGC GAC CTT CTC GGC TGC CTG CGA CCT TCT CGG CTG CCT GG gtaag

075 (c.0231)

V: 12

Reported as c.201-309dup19
Patients: Chinese

(15)

OA1

Asp 78 Asn

GAC>AAC

078 (c.0232)

HGMD listed

Defective glycosylation

Reduced yield

ER retention

No IR in human melanocytes
Missense
Group II

(4)

(1)

(7)

OA1

Asp 78 Val

GAC>GTC

078 (c.0233)

HGMD listed

Missense

(14)

(19)

OA1

c.237delTCT

CTT CTC GGC>CT_ __C GGC

079 (c.0237)

(5)

OA1

Gly 81 Val

GGC>TGC

081 (c.0241)

Patients: French, familiar

(12)

OA1

Deletion Exon 2

084 (c.0250)

HGMD listed

Micro
Deletion
Patients: OAP-17, OAP-22

(23)

OA1

Gly 84 Arg

GGT>CGT

084 (c.0250)

-BstNI

HGMD listed

Missense
Patients: OAP-30

(23)

OA1

Deletion Exon 2 - 8

084 (c.0250)

HGMD listed

Micro
Deletion
Patients: OAP-14, OAP-21, OAP-23, OAP-24, OAP-27, OAP-33

(23)

(9)

(7)

OA1

Deletion Exon 2 - 8

084 (c.0250)

Micro
Deletion
Patients: BCM-XL-291-02, BCM-XL-293-02

(1)

OA1

Deletion Exon 2

900bp del

084 (c.0250)

IVS1

HGMD listed

Micro
Deletion
Patients: BCM-XL-277-01

(22)

(1)

(7)

OA1

Deletion IVS1 - Exon 2

200bp del

084 (c.0250)

IVS1

Micro
Deletion
Patients: BA404

(22)

(1)

OA1

Deletion Exon 2

1000bp del

084 (c.0250)

IVS1

HGMD listed

Micro
Deletion
Patients: BA390

(22)

(1)

OA1

Deletion IVS1 - IVS2

3100bp del

084 (c.0250)

IVS1

HGMD listed

Micro
Deletion
Patients: BA204

(22)

(1)

SNP

c.251delG

cttag GT ATG>cttag _T ATG

084 (c.0251)

rs34876833

dbSNP

OA1

Deletion Exon 2

g.5360_6371del1012

084 (c.0251)

Patients: Italian

(13)

OA1

Gly 84 Asp

GGT>GAT

084 (c.0251)

HGMD listed

Defective glycosylation

Reduced yield

ER retention
Splice Site Mutation
Group II
Patients: French

(22)

(4)

(1)

(3)

(7)

OA1

IVS1-1g>c

tag GT>tac GT

084 (c.0251)

IVS1

+SnaBI

HGMD listed

Splice Site Mutation
Patients: OAP-7

(23)

OA1

Ser 89 Phe

TCC>TTC

089 (c.0266)

V: 09

(11)

OA1

c.268delACC

TCC ACC GTG>TCC ___ GTG

090 (c.0268)

(17)

OA1

c.310delG

TCG GAT>TCG _AT

104 (c.0310)

rs34876833

(14)

(19)

(6)

OA1

Trp 111 ter

TGG>TGA

111 (c.0333)

-HaeIII

(17)

OA1

c.336insC

TGG CCT>TGG CCC T

112 (c.0336)

(17)

OA1

Cys 116 Ser

TGC>TCC

116 (c.0346)

HGMD listed

Defective glycosylation

Reduced yield

ER retention
Missense
Group II

(4)

(1)

OA1

Cys 116 Arg

TGC>CGC

116 (c.0346)

+BstUI

HGMD listed

Missense
Patients: OAP-26

(23)

OA1

Cys 116 Gly

TGC>GGC

116 (c.0346)

(8)

OA1

Cys 116 Trp

TGC>TGT

116 (c.0348)

Patients: Canadian, sporadic

(12)

OA1

Gly 118 Glu

GGG>GAG

118 (c.0353)

HGMD listed

Defective glycosylation

Reduced yield

ER retention
Missense
Group II
Patients: OAP-8

(23)

(4)

(1)

(5)

OA1

Ala 120 Ala

GCG gtg>GCA gtg

120 (c.0360)

HGMD listed

V: 07

(14)

(19)

Polymorphism

IVS2+13c>g

cccct>ccgct

120 (c.0360)

IVS2

(19)

OA1

IVS2+5g>c

gagtc>gactc

120 (c.0360)

IVS2

HGMD listed

Splice Site Mutation

(22)

(1)

OA1

Deletion Exon 3

1172bp del

121 (c.0361)

HGMD listed

Patients: BCM-XL-318-02

(1)

OA1

Gln 124 Arg

CAG>CGG

124 (c.0371)

HGMD listed

Full glycosylation

Lysosomal

Wild type yield
Missense
Group I

(4)

(1)

OA1

Trp 132 Arg

TGG>CGG

132 (c.0394)

(18)

OA1

Trp 133 Arg

TGG>CGG

133 (c.0397)

+HpaII, + MspI

HGMD listed

V: 03

Defective glycosylation

Reduced yield

ER retention
Missense
Group II
Patients: OAP-11, OAP-20

(23)

(4)

OA1

Trp 133 Arg

TGG>AGG

133 (c.0397)

HGMD listed

V: 06

Missense

(14)

(19)

SNP

c.399insG

TGG CTG>TG_ CTG

133 (c.399)

rs35528779

dbSNP

OA1

Leu 134 Pro

GGC>GAC

134 (c.0401)

Patients: Canadian

(3)

(12)

OA1

c.402delG

CTG TTT>CT_ TTT

134 (c.0402)

HGMD listed

Previously reported as c.462delG
Patients: OAP-32

(23)

OA1

Ala 138 Val

GCA>GTA

138 (c.0413)

-MwoI

HGMD listed

Full glycosylation

Lysosomal

Wild type yield
Missense
Group I
Patients: OAP-1

(23)

(4)

SNP

Arg 147 Lys

AGA>AAA

147 (c.440)

rs58068096

dbSNP

OA1

c.445insAGATCGG

TCG GCA GGA>TCG GAG ATC GGC AGG A

149 (c.0445)

+Sau3AI, +MboI, +DpnI, +DpnII

HGMD listed

Previously reported c.505ins7bp

(22)

(1)

OA1

Ser 152 Asn

AGC>AAC

152 (c.0455)

-DdeI

HGMD listed

V: 04

Full glycosylation

Lysosomal

Wild type yield
Splice Site Mutation
Group I
Patients: OAP-26

(23)

(4)

OA1

IVS3+1g>c

AG gta>AG cta

152 (c.0455)

IVS 3

HGMD listed

reported as c.515g>c

(1)

(7)

OA1

Deletion IVS3 - IVS8

152 (c.0455)

IVS3

HGMD listed

Patients: BA460

(22)

(1)

OA1

Deletion Exon 4

152 (c.0456)

HGMD listed

Patients: OAP-6, OAP-19

(23)

OA1

Deletion Exon 4 - 5

152 (c.0456)

HGMD listed

Patients: OX1

(1)

OA1

Gly 163 Asp

GGC>GAC

163 (c.0488)

Patients: French

(3)

OA1

Thr 166 Asn

ACC>AAC

166 (c.0497)

Patients: French, sporadic

(12)

OA1

c.504delTC

CTG CTC TGT >CTG CT_ _GT

168 (c.0504)

Patients: French, sporadic

(12)

OA1

Ala 173 Asp

GCC>GAC

173 (c.0518)

-NlaIV, -Fmu4HI, +HgaI, +AhaII, +BsmAI

HGMD listed

Defective glycosylation

Reduced yield

ER retention
Missense
Group II

(22)

(4)

(1)

OA1

IVS4+2t>a

AG gtaa>AG gaaa

183 (c.0548)

IVS4

Patients: Canadian, sporadic

(12)

OA1

Glu 185 Lys

GAG>AAG

185 (c.0553)

(18)

OA1

c.556insC

GAG CGG>GAG CCG G

186 (c.0556)

(18)

OA1

Arg 186 Trp

CGG>TGG

186 (c.0556)

(18)

OA1

Arg 186 Pro

CGG>CCG

186 (c.0557)

(18)

OA1

c.564delCT

GGC CTG>GGC __G

188 (c.0564)

Patients: Italian

(13)

SNP

His 190 His

CAC>CAT

190 (c.0570)

rs61733440

dbSNP

SNP

His 190 Gln

CAC>CAA

190 (c.0570)

rs61733440

dbSNP

SNP

His 190 His

CAC>CAG

190 (c.0570)

rs61733440

dbSNP

OA1

c.601insT

CTG CCC CTG>CTG TCC CCTG

201 (c.0601)

Patients: Canadian, sporadic

(12)

OA1

del gene

g.1103-g.7266 (6164 bp)

211 (c.0361)

(5)

OA1

Gln 214 ter

CAA>TAA

214 (c.0640)

(10)

OA1

IVS5+1g>a

GCA G gtaa>GCA G ataa

220 (c.0658)

IVS5

(5)

OA1

Deletion Exon 6

220 (c.660)

(6)

OA1

c.677delG

AAA GGA>AAA G_A

226 (c.0677)

HGMD listed

Previously reported as c.737delG

(1)

(7)

(18)

OA1

Gly 229 Val

GGC>GTC

229 (c.0686)

HGMD listed

Full glycosylation

Lysosomal

Wild type yield
Missense
Group I

(4)

(1)

(17)

OA1

Thr 232 Lys

ACG>AAG

232 (c.0695)

HGMD listed

V: 05

Full glycosylation

Lysosomal

Wild type yield
Missense
Group II
Patients: OAP-28

(23)

(4)

OA1

Glu 233 Lys

GAG>AAG

233 (c.0697)

Missense

(14)

(19)

OA1

Glu 235 Lys

GAG>AAG

235 (c.0705)

HGMD listed

Full glycosylation

Lysosomal

Wild type yield
Missense
Group I
Patients: OAP-35

(23)

(4)

OA1

c.720delG

GGA GCC>GGA _CC

240 (c.0720)

-NlaIV

(18)

(17)

OA1

Ile 244 Val

ATC>GTC

244 (c.0730)

HGMD listed

Full glycosylation

Lysosomal

Wild type yield

Has been reported as I244K
Missense
Group I

(1)

(4)

(7)

OA1

Arg 245 ter

CGA>TGA

245 (c.0735)

-AlwI

HGMD listed

Patients: OAP-10
Canadian

(23)

(1)

(3)

(7)

(17)

OA1

c.756del14bp

CTG GTT TTA ATT ATT TG gtaac>CTG GT_ ___ ___ ___ __ __aac

252 (c.0756)

-Tsp509I

Previously reported as c.816del14bp
Patients: 074

(16)

Polymorphism

IVS6+10c>g

ttc tt>ttg tt

256 (c.0767)

IVS6

(21)

OA1

Deletion Exon 7 - 8

256 (c.0768)

(6)

OA1

del exon 7

256 (c.0768)

exon 7

(17)

OA1

IVS6-2delagTT

aacag T TGG>aac__ _ _GG

256 (c.0768)

IVS6

(17)

OA1

Ile 261 Asn

ATC>AAC

261 (c.0779)

HGMD listed

Defective glycosylation

Reduced yield

ER retention
Missense
Group II

(4)

(1)

OA1

Asn 263 Lys

AAT>AAG

263 (c.0789)

(17)

OA1

Glu 271 Gly

GAG>GGG

271 (c.0812)

HGMD listed

Full glycosylation

Lysosomal

Wild type yield
Missense
Group I

(4)

(1)

OA1

Ile 276 Val

ATC>AGC

276 (c.0827)

-EcoRV

V: 10

associated with G312V

(17)

OA1

c.849delT

CCT GTC>CC_ GTC

283 (c.0849)

(5)

OA1

Arg 285 ter

GGC>GAC

285 (c.0853)

Patients: Canadian

(3)

(12)

OA1

c.868delACC

AAG ACC ACA>AAG ___ ACA

290 (c.0868)

HGMD listed

Previously reported as Thr 290 del

Defective glycosylation
Reduced yield
ER retention
Deletion

(22)

(4)

(1)

OA1

Trp 292 Gly

TGG>GGG

292 (c.0874)

-NlaIII

HGMD listed

Defective glycosylation

Reduced yield

ER retention
Missense
Group II

(22)

(4)

(1)

OA1

Trp 292 Cys

TGG>TGT

292 (c.0876)

HGMD listed

Micro
Deletion

(1)

(7)

OA1

Trp 292 ter

TGG>TGA

292 (c.0876)

HGMD listed

(1)

OA1

IVS7-2a>t

ccag GT>cctg GT

292 (c.0886)

IVS7

Micro
Deletion
Patients: Canadian, sporadic

(12)

OA1

IVS7+1g>a

ATG gta>ATG cta

294 (c.0885)

IVS 7

HGMD listed

Previously reported as 945+1g-a
Micro
Deletion

(1)

OA1

IVS2+748g>a

294 (c.0885)

IVS7

(25)

OA1

del gene

g.25985-g.26546 (562 bp)

296 (c.0886)

(5)

OA1

c.932insCG

TAC GGC>TAC CGG GC

311 (c.0932)

-BceFI, +Fnu4HI, +BstUI

HGMD listed

rs62635047

V: 01

Previously reported as c.992insCG
Insertion

(22)

(1)

OA1

Tyr 311 ter

TAC>TAG

311 (c.0933)

(18)

OA1

Gly 312 Val

GGC>GTC

312 (c.0935)

+Hpy188III

associated with G312V

(17)

OA1

Gly 315 ter

GGA>TGA

315 (c.0943)

(26)

SNP

Met 346 Val

ATG>GTG

346 (c.1036)

rs34324958

dbSNP

Polymorphism

c.1349c>t

c>t

404 (c.1349)

3'UTR

reported c.1409c>t

(19)

References:

Bassi,M.T., Bergen,A.A., Bitoun,P., Charles,S.J., Clementi,M., Gosselin,R., Hurst,J., Lewis,R.A., Lorenz,B., Meitinger,T., Messiaen,L., Ramesar,R.S., Ballabio,A., and Schiaffino,M.V. Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America. 2001; Hum.Genet. 108: 51-54.
Goto Top
Burns,W.N., Schiaffino,M.V., and Lewis,R.A. Repeated transmission of X-linked ocular albinism type 1 by a carrier oocyte donor. 1998; Fertil.Steril. 70: 1169-1172.
Goto Top
Camand,O., Boutboul,S., Arbogast,L., Roche,O., Sternberg,C., Sutherland,J., Levin,A., Heon,E., Menasche,M., Dufier,J., and Abitbol,M. Mutational analysis of the OA1 gene in ocular albinism. 2003; Ophthalmic Genet. 24: 167-173.
Goto Top
d'Addio,M., Pizzigoni,A., Bassi,M.T., Baschirotto,C., Valetti,C., Incerti,B., Clementi,M., De Luca,M., Ballabio,A., and Schiaffino,M.V. Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1. 2000; Hum.Mol.Genet. 9: 3011-3018.
Goto Top
Fang,S., Guo,X., Jia,X., Xiao,X., Li,S., and Zhang,Q. Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism. 2008; Mol.Vis. 14:1974-82. Epub@2008 Oct 30.: 1974-1982.
Goto Top
Faugere,V., Tuffery-Giraud,S., Hamel,C., and Claustres,M. Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay. 2003; BMC.Genet. 4: 7
Goto Top
Hegde,M., Lewis,R.A., and Richards,C.S. Diagnostic DNA testing for X-linked ocular albinism (OA1) with a hierarchical mutation screening protocol. 2002; Genet Test. 6: 7-14.
Goto Top
Iannaccone,A., Tedesco,S.A., Gallaher,K.T., Yamamoto,H., Charles,S., and Dryja,T.P. Fundus albipunctatus in a 6-year old girl due to compound heterozygous mutations in the RDH5 gene. 2007; Doc.Ophthalmol. 115: 111-116.
Goto Top
Lam,B.L., Fingert,J.H., Shutt,B.C., Singleton,E.M., Merin,L.M., Brown,H.H., Sheffield,V.C., and Stone,E.M. Clinical and molecular characterization of a family affected with X-linked ocular albinism (OA1). 1997; Ophthalm.Genet. 18: 175-184.
Goto Top
Lauronen,L., Jalkanen,R., Huttunen,J., Carlsson,E., Tuupanen,S., Lindh,S., Forsius,H., Sankila,E.M., and Alitalo,T. Abnormal crossing of the optic fibres shown by evoked magnetic fields in patients with ocular albinism with a novel mutation in the OA1 gene. 2005; Br.J.Ophthalmol. 89: 820-824.
Goto Top
Liu,S., Li,P., Dybkov,O., Nottrott,S., Hartmuth,K., Luhrmann,R., Carlomagno,T., and Wahl,M.C. Binding of the human Prp31 Nop domain to a composite RNA-protein platform in U4 snRNP. 2007; Science. 316: 115-120.
Goto Top
Mayeur,H., Roche,O., Vetu,C., Jaliffa,C., Marchant,D., Dollfus,H., Bonneau,D., Munier,F.L., Schorderet,D.F., Levin,A.V., Heon,E., Sutherland,J., Lacombe,D., Said,E., Mezer,E., Kaplan,J., Dufier,J.L., Marsac,C., Menasche,M., and Abitbol,M. Eight previously unidentified mutations found in the OA1 ocular albinism gene. 2006; BMC.Med.Genet. 7:41.: 41
Goto Top
Micale,L., Augello,B., Fusco,C., Turturo,M.G., Granatiero,M., Piemontese,M.R., Zelante,L., Cecconi,A., and Merla,G. GPR143 mutational analysis in two Italian families with X-linked ocular albinism. 2009; Genet.Test.Mol.Biomarkers. 13: 527-531.
Goto Top
Oetting,W.S. New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene. 2002; Hum Mutat. 19: 85-92.
Goto Top
Peng,Y., Meng,Y., Wang,Z., Qin,M., Li,X., Dian,Y., and Huang,S. A novel GPR143 duplication mutation in a Chinese family with X-linked congenital nystagmus. 2009; Mol.Vis. 15:810-4. Epub@2009 Apr 22.: 810-814.
Goto Top
Preising,M., op de Laak,J.P., and Lorenz,B. Deletion in the OA1 gene in a family with congenital X linked nystagmus. 2001; Br.J.Ophthalmol. 85: 1098-1103.
Goto Top
Preising,M.N., Forster,H., Gonser,M., and Lorenz,B. Mutations screening of TYR, OCA2, GPR143, and MC1R in Patients Identified by Congenital Nystagmus, Macular Hypoplasia and Hypopiogmentatof the Fundus; the Classical Features of Ocular and Oculocutaneous Albinism. 2010; submitted.
Goto Top
Roma,C., Ferrante,P., Guardiola,O., Ballabio,A., and Zollo,M. New mutations identified in the ocular albinism type 1 gene. 2007; Gene. 402: 20-27.
Goto Top
Rosenberg,T. and Schwartz,M. X-linked ocular albinism: prevalence and mutations--a national study. 1998; Eur.J.Hum.Genet. 6: 570-577.
Goto Top
Rudolph,G., Meindl,A., Bechmann,M., Schworm,H.D., Achatz,H., Boergen,K.P., Kampik,A., Berninger,T., and Meitinger,T. X-linked ocular albinism (Nettleship-Falls): a novel 29-bp deletion in exon 1. Carrier detection by ophthalmic examination and DNA analysis. 2001; Graefes Arch.Clin.Exp.Ophthalmol. 239: 167-172.
Goto Top
Sallmann,G.B., Bray,P.J., Rogers,S., Quince,A., Cotton,R.G., and Carden,S.M. Scanning the ocular albinism 1 (OA1) gene for polymorphisms in congenital nystagmus by DHPLC. 2006; Ophthalmic Genet. 27: 43-49.
Goto Top
Schiaffino,M.V., Bassi,M.T., Galli,L., Renieri,A., Bruttini,M., Denigris,F., Bergen,A.A.B., Charles,S.J., Yates,J.R.W., Meindl,A., Lewis,R.A., King,R.A., Ballabio,A., De Nigris,F., and Yates,J.R. Analysis of the OA1 gene reveals mutations in only one third of patients with X-linked ocular albinism. 1995; Hum.Mol.Genet. 4: 2319-2325.
Goto Top
Schnur,R.E., Gao,M., Wick,P.A., Keller,M., Benke,P.J., Edwards,M.J., Grix,A.W., Hockey,A., Jung,J.H., Kidd,K.K., Kistenmacher,M., Levin,A.V., Lewis,R.A., Musarella,M.A., Nowakowski,R.W., Orlow,S.J., Pagon,R.S., Pillers,D.A., Punnett,H.H., Quinn,G.E., Tezcan,K., Wagstaff,J., and Weleber,R.G. OA1 mutations and deletions in X-linked ocular albinism. 1998; Am.J.Hum.Genet. 62: 800-809.
Goto Top
Tijmes,N.T., Bergen,A.B., and de Jong,P.T. Paucity of signs in X linked ocular albinism with a 700 kb deletion spanning the OA1 gene. 1998; Br.J.Ophthalmol. 82: 457-458.
Goto Top
Vetrini,F., Tammaro,R., Bondanza,S., Surace,E.M., Auricchio,A., De,L.M., Ballabio,A., and Marigo,V. Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides. 2006; Hum.Mutat. 27: 420-426.
Goto Top
Wang,Y., Guo,X., Wei,A., Zhu,W., Li,W., and Lian,S. Identification of a novel mutation in a Chinese family with X-linked ocular albinism. 2009; Eur.J.Ophthalmol. 19: 124-128.
Goto Top
Xiao,X. and Zhang,Q. Iris hyperpigmentation in a Chinese family with ocular albinism and the GPR143 mutation. 2009; Am.J.Med.Genet.A. 149A: 1786-1788.
Goto Top
Zhou,P., Wang,Z., Zhang,J., Hu,L., and Kong,X. Identification of a novel GPR143 deletion in a Chinese family with X-linked congenital nystagmus. 2008; Mol.Vis. 14:1015-9.: 1015-1019.
Goto Top

Return to Retina International's Scientific Newsletter

Return to Group page

Return to pagehead