Retina International's Scientific Newsletter
	Mutation Database Mutations of the Phosphodiesterase type 6

Recent update from: 20.07.99

Phenotype	Mutation	Basechange	Nucleotide	Exon	Restriction Site	Classification & Remarks	Mutation Database	OMIM	Reference
	Mutation map						Map
ARRP	Ser 344 Arg	AGC-AGA		7			CM950920	180071-0002	(8)
ARRP	Trp 561 Ter	TGG-TGA		13			CM950921	180071-0003	(8)
ARRP	Tyr 583 ter	TAC-TAG		14			CM950922	180071-0001	(8)

Phenotype	Mutation	Basechange	Nucleotide	Exon	Restriction Site	Classification & Remarks	Mutation Database	OMIM	Reference
	cosegregation analysis not possible	cp	0	0
	Mutation map						Map
	no cosegregation	nc	0	0
ADRP	IVS8-10g-a	G-A		8		Compound L228H			(6)
ADRP		GT-AT		18		Missense did not segregate with disease			(6)
ADRP	IVS5-8 ins 22bp	ins 22 bp		5		Missense did not segregate with disease One control was positive			(6)
ADRP	Glu 166 Lys			2		Heterozygous Missense did not segregate with disease			(6)
ADRP	Tyr 212 His	TAC-CAC	0634	3		Missense did not segregate with disease One control was positive			(6)
ADRP	Leu 228 His					Compound IVS8-10g-a			(6)
ARRP	Arg 74 Cys	CGC-TGC	0220	01	-MvnI				(17)
ARRP	Arg 74 ins C	CGC-CCGC	0220	01	+HaeII				(17)
ARRP	240 dup ins 7bp		0240	01				180072-0006	(2)
ARRP	IVS2-1g-t	agG-atG		IVS2		Splice error	CS951476		(3) (11)
ARRP	Tyr 219 His	TAC-CAC	0655	03					(13)
ARRP	Leu 228 His	CTC-CAC	0683	03					(13)
ARRP	Cys 270 ter	TGC-TGA	0710	04		Homozygous History of night vision disturbances			(4)
ARRP	Gln 298 ter	CAG-TAG	0892	05			CM930573	180072-0001	(10)
ARRP	Pro 496 delC	CCC-CC	1488	12				18007240003	(10)
ARRP	Arg 552 Gln	CGG-CAG	1655	13					(15)
ARRP	Leu 527 Pro	CTG-CCG	1580	12	+MspI		CM950923		(10)
ARRP	Arg 531 ter	CGA-TGA	1591	12			CM930574	180072-0002	(10)
ARRP	Arg 552 Gln	CGG-CAG	1655	13			CM961058		(14)
ARRP	His 557 Tyr	CAC-TAC	1669	13			CM950924	180072-0004	(10)
ARRP	Gly 576 Asp	GGC-GAC	1727	14			CM950925		(3)
ARRP	Asp 600 Asp	GAC-AAC	1800	14					(1)
ARRP	His 620delC	CAC-AC	1858	15			CD951783		(3)
ARRP	Leu 699 Arg	CTG-CGG	2096	17			CM961059		(16)
ARRP	Lys 706 ter	AAG-TAG	2116	17			CM950926		(3)
ARRP	IVS18+1g-a	Ggt-Gat		IVS18					(10)
ARRP	Leu 854 Val	CTG-GTG	2560	22					(17)
CSNB	His 258 Asn	CAC-CAA	0774	04			CM941138	18007-0005	(5)
Polymorphism	Asp 205 Asp	GAC-GAT	0615	02					(17)
Polymorphism	Leu 228 Ile	CTC-ATC	0682	03					(9)
Polymorphism	IVS3-11c-a	gcccc tccc-gccac tccc		03					(17)
Polymorphism	Ser 291 Ser	TCT-TCC	0873	05					(10)
Polymorphism	Thr 305 Thr	ACG-ACA	0915	05					(9)
Polymorphism	IVS6	CCCGGGG-CCCCGGG		IVS6		Sequence is not detected in HSCGMP1-4			(10)
Polymorphism	IVS7-15c-a	TTTCTGA-TTTATGA		IVS7					(17)
Polymorphism	Ser 361 Ser	TCC-TTC	1082	08	+MvnI				(17)
Polymorphism	IVS9+46g-c	gaggggtg-gagcggtg		IVS9					(10)
Polymorphism	IVS9+42c-t	ctgcgag-ctgtgag		IVS9					(10)
Polymorphism	IVS11+42c-t	ccacgtg-ccatgtg		IVS11					(10)
Polymorphism	Leu 489 Gln	CTG-CAG		11					(12)
Polymorphism	IVS11+21c-t	GGTCCCT-GGTTCCT		IVS11					(10)
Polymorphism	317g-a	g-a		5'UTR					(17)
Polymorphism	Arg 552 Arg	C-T		13					(17)
Polymorphism	IVS13+14a-c	gccagaa-gcccgaa		IVS13					(17)
Polymorphism	Arg 705 Arg	CGG-CGA	2115	17					(10)
Polymorphism	Val 732 Val	GTC-GTA	2196	19					(17)
Polymorphism	IVS19+26a-t	TCCACTC-TCCTCTC		IVS19					(10)
Polymorphism	IVS20+22c-t	ttccgag-ttctgag		IVS20					(10)
Polymorphism	Gly 842 Gly	GGC-GGT	2526	22					(10)
Polymorphism	IVS22+11a-g	CCATGG-CCGTGG		IVS22					(10)
Polymorphism	IVS22+2119c-a	gacggcc-gaaggcc		IVS22					(10)
Polymorphism , cp	Ala 155 Ser	GCC-TCC	0463	01		cp			(10)
Polymorphism , cp	Glu 166 Lys	GAG-AAG	0496	02		cp			(10)
Polymorphism , nc	Tyr 219 His	TAC-CAC	0655	03		nc			(10)
Polymorphism , nc	Arg 602 His	CGC-CAC	1805	14		nc			(10)

Phenotype	Mutation	Basechange	Nucleotide	Exon	Restriction Site	Classification & Remarks	Mutation Database	OMIM	Reference
Polymorphism	Pro 27 His	CCC-CAC	080	1		Heterozygous in 7 of 12 asymptomatic relatives			(7)
Polymorphism	Asp 52 Asp	GAC-GAT	159	2					(7)
Polymorphism	270g-c	cgaggcc-cgacgcc	270	3'UTR					(7)

References

1. Baiget, M., Calaf, M., del Rio, E., Reig, C., Carballo, M., and Calvo, M. Identification of two allelic mutations at codons 298 and 600 of the PDEB gene in two affected siblings of an ARRP Spanish family. 1996; Am.J.Hum.Genet. 59: A392
Goto Top

2. Bayes, M., Giordano, M., Balcells, S., Grinberg, D., Vilageliu, L., Martinez, I., Ayuso, C., Benitez, J., Ramosarroyo, M.A., Chivelet, P., Solans, T., Valverde, D., Amselem, S., Goossens, M., Baiget, M., Gonzalezduarte, R., and Besmond, C. Homozygous tandem duplication within the gene encoding the beta-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa. 1995; Hum.Mutat. 5: 228 - 234.
Goto Top

3. Danciger, M., Blaney, J., Gao, Y.Q., Zhao, D.Y., Heckenlively, J.R., Jacobson, S.G., and Farber, D.B. Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa. 1995; Genomics. 30: 1 - 7.
Goto Top Link to PudMed

4. Danciger, M., Heilbron, V., Yong-Qing, G., Dan-Zhu, Z., Jacobson, S.G., and Farber, D.B. A homozygous PDE6B mutation in a family with autosomal recessive Retinitis Pigmentosa. 1996; Mol.Vis. 2: 10
Goto Top
Human Mutation Online

5. Gal, A., Orth, U., Baehr, W., Schwinger, E., and Rosenberg, T. Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness. 1994; Nat.Genet. 7: 551
Goto Top Link to PudMed

6. Gao, Y.Q., Danciger, M., Zhao, D.Y., Blaney, J., Piriev, N.I., Shih, J., Jacobson, S.G., Heckenlively, J.H., and Farber, D.B. Screening of the PDE6B gene in patients with autosomal dominant retinitis pigmentosa. 1996; Experimental Eye Research. 62: 149 - 154.
Goto Top

7. Hahn, L.B., Berson, E.L., and Dryja, T.P. Evaluation of the gene encoding the gamma subunit of rod phosphodiesterase in retinitis pigmentosa. 1994; Invest.Ophthalmol.Vis.Sci. 35: 1077 - 1082.
Goto Top

8. Huang, S.H., Pittler, S.J., Huang, X., Oliveira, L., Berson, E.L., and Dryja, T.P. Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase. 1995; Nat.Gen. 11: 468 - 471.
Goto Top Link to PudMed

9. McLaughlin, M.E., Ehrhardt, T.L., Sandberg, M.A., Berson, E.L., and Dryja, T.P. Mutations in the beta subunit of rod phosphodiesterase in patients with autosomal recessive Retinitis pigmentosa. 1994; Invest.Ophthalmol.Vis.Sci. 35 (Suppl.): 1718
Goto Top

10. McLaughlin, M.E., Ehrhart, T.L., Berson, E.L., and Dryja, T.P. Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa. 1995; Proc.Natl.Acad.Sci.U.S.A. 92: 3249 - 3253.
Goto Top Link to PudMed

11. Piriev, N.I., Shih, J.M., and Farber, D.B. Defective RNA splicing resulting from a mutation in the cyclic guanosine monophosphate-phosphodiesterase beta-subunit gene. 1998; Invest.Ophthalmol.Vis.Sci. 39: 463 - 470.
Goto Top Link to PudMed

12. Riess, O., Noerremoelle, A., Weber, B., Musarella, M.A., and Hayden, M.R. The search for mutations in the gene for the beta subunit of the cGMP phosphodiesterase (PDEB) in patients with autosomal recessive retinitis pigmentosa. 1992; Am.J.Hum.Genet. 51: 755 - 762.
Goto Top

13. Tiller, G.E., Polumbo, P.A., Heinzmann, C., Kojis, T.L., and Bateman, J.B. The gene for the ?-subunit of rod cGMP phosphodiesterase (PDEB) is tightly linked to the huntington locus on human chromosome 4p16. 1994; Invest.Ophthalmol.Vis.Sci. 35 (Suppl.): 1265
Goto Top

14. Valverde, D., Seminago, R., del Rio, E., Ayuso, C., Garcia-Sandoval, B., del Rio, T., Bayes, M., Balcells, S., Gonzalez-Duarte, R., and Baiget, M. An homozygous G to A transition in exon 13 of the b subunit of rod phosphodiesterase in two RP patients of a consanguineous family. 1995; Am.J.Hum.Genet. 57: A230
Goto Top

15. Valverde, D., Baiget, M., Seminago, R., del Rio, E., Garcia Sandoval, B., del Rio, T., Bayes, M., Balcells, S., Martinez, A., Grinberg, D., and Ayuso, C. Identification of a novel R552Q mutation in exon 13 of the beta- subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa. 1996; Hum.Mutat. 8: 393 - 394.
Goto Top

16. Valverde, D., Solans, T., Grinberg, D., Balcells, S., Vilageliu, L., Bayes, M., Chivelet, P., Besmond, C., Goossens, M., Gonzalez Duarte, R., and Baiget, M. A novel mutation in exon 17 of the beta-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family. 1996; Hum.Genet. 97: 35 - 38.
Goto Top

17.Veske, A., Orth, U., Rüther, K., Zrenner, E., Rosenberg, T., Baehr, W., Gal, A. Mutations in the gene for the ?-subunit of rod photoreceptor cGMP-specific phosphodiesterase (PDEB) in patients with retinal dystrophies and dysfunctions. in Anderson, R.E., LaVail, M.M., Hollyfield, J.G. eds. Degenerative Diseases of the Retina. 1995; Plenum Press, New York, London: 35, p. 313 - 322.
Goto Top

	Return to Retina International's Scientific Newsletter	Return to Mutation Database Page	Return to pagehead
Contact the editor: irpamp@irpa.org	Return to Database Page	This site is maintained and edited by Dr. rer. medic. Markus Preising, Dipl.Biol. Molecular Genetics Laboratory Department of Pediatric Ophthalmology, Strabismology and Ophthalmogenetics University of Regensburg Head: Prof. Dr. med. Birgit Lorenz