Scientific		 Mutation Database
Centrosomal Protein; 290 kDa
(CEP-290)
Recent update from: 18.09.2006
Phenotype Mutation Basechange Nucleotide Exon Restriction Site Classification
& Remarks		 Mutation Database OMIM Reference
Sequence





The sequence data are adjusted to a sequence given in a WORD file which can be downloaded here. Nucleotides are counted from the translation start site as used in recent publications of CEP-290 mutations.


JBTS Trp 7 Cys TGG>TGT c.0021 02

Homozygous
Shows wild-type like centrosomal localization


Patients: COR22
610142-0003 (3)
JBTS 3175insA ATT TCA AAA AAA ATA ACT>ATT TCA AAA AAA ATA AAC T c.3175 28

Heterozygous
Compound
  • 7341insA
early onset Tapetoretinal Degeneration


Patients: A197 Danish

(2)
JBTS 3176insT ATT TCA AAA AAA ATA ACT>ATT TCA AAA AAA _AA ACT c.3176 28

Homozygous


Patients: MK052

(3)
JBTS 4656delA CAA AAA GAA CAA AA_ GAA c.4656 35

Heterozygous
Compound
  • G1890X
early onset Tapetoretinal Degeneration


Patients: F63 German
610142-0002 (2)
JBTS Glu 1578 ter GAG>TAG c.4732 36

Homozygous


Patients: COR27

(3)
JBTS Gln 1597 ter CAG>TAG c.4771 36

Heterozygous
Compound
  • single



Patients: F256 USA

(2)
JBTS Gln 1942 ter CAG>TAG c.5424 42

Homozygous


Patients: MTI133

(3)
JBTS 5515delGAGA AGA GAG AAA GAG>AGA ___ _AA GAG c.5515 40

Heterozygous
Compound
  • 5649insA



Patients: F89 German

(2)
JBTS 5649insA GTT AAA AAA CTA>GTT AAA AAA ACT A c.5649 41

Heterozygous
Compound
  • 5515delGAGA



Patients: F89 German

(2)
JBTS Gly 1890 ter GGA>TGA c.5668 41

Homozygous
Heterozygous
Compound
  • 4656delA
early onset Tapetoretinal Degeneration


Patients: F63 German
F700 Turkish
F944 Turkish
COR51
610142-0001 (2)
(3)
JBTS Gln 2111 ter CAG>TAG c.6331 46

Heterozygous
Compound
  • single



Patients: F91 German

(2)
JBTS 7341insA GTA AAA AAA CTT>GTA AAA AAA ACT T c.7341 54

Heterozygous
Compound
  • 3175insA
early onset Tapetoretinal Degeneration


Patients: A197 Danish
610142-0006 (2)
LCA10 IVS3-1g>t AAG gtttg>AAG ttttg c.0180 IVS3

Heterozygous
Compound
  • IVS26+1655a>g



Patients: 21918 (Netherlands)

(1)
LCA10 265insA TTA AAA ACT>TTA AAA AAC T c.0265 05

Heterozygous
Compound
  • IVS26+1655a>g



Patients: 21365 (Netherlands)

(1)
LCA10 679delGA ACA GAA GCT>ACA __A GCT c.0679 10

Heterozygous
Compound
  • IVS26+1655a>g



Patients: 20152 (Netherlands)

(1)
LCA10 1550delT GAT TTA ACT>GAT T_A ACT c.1550 16

Heterozygous
Compound
  • IVS26+1655a>g



Patients: 27242 (Canadian)

(1)
LCA10 2118dupTCAGC GAT CAG CTT>GAT CAG CTC AGC TT c.2118 21

Heterozygous
Compound
  • IVS26+1655a>g



Patients: 15103 (German)

(1)
LCA10 IVS26+1655a>g tgtga atatc>tgtga gtatc c.2991 IVS26

Homozygous
Heterozygous
Compound
  • L750X
  • 7341insA
  • 2118dupTCAGC
  • E1956X
  • R1272X
  • 679delGA
  • 265insA
  • IVS3+1g>t
  • L517X
  • 4115delTA
  • E1655X
  • 5813delCTTTA



Patients: 12832, 16137, 17971, 20152, 21365, 21393, 21918 (Netherlands)
13168, 14964, 15103, 15212 (German)
27228, 27242, 27245, 27246 (Canadian)
27250 (Italian)
610142-0005 (1)
LCA10 Arg 1272 ter CGA>TGA c.3814 31

Heterozygous
Compound
  • IVS26+1655a>g



Patients: 17971 (Netherlands)

(1)
LCA10 4115delTA GAA ATA AAA>GAA A__ AAA c.4115 32

Heterozygous
Compound
  • IVS26+1655a>g



Patients: 27245 (Canadian)

(1)
LCA10 Glu 1656 ter GAA>TAA c.4966 37

Heterozygous
Compound
  • IVS26+1655a>g



Patients: 27246 (Canadian)

(1)
LCA10 5813delCTTTA TTT ACT TTA ACA>TTT A__ ___ ACA c.5813 42

Heterozygous
Compound
  • IVS26+1655a>g



Patients: 27250 (Italian)

(1)
LCA10 Glu 1956 ter GAG>TAG c.5876 43

Heterozygous
Compound
  • IVS26+1655a>g



Patients: 15212 (German)

(1)
LCA10 7341insA GTA AAA AAA CTT>GTA AAA AAA ACT T c.7341 54

Heterozygous
Compound
  • IVS26+1655a>g



Patients: 14964 (German)

(1)
Polymorphism Ala 685 Ala GTC/GCC c.2055 21





Patients:


(1)
Polymorphism Ser 756 Ser TCA/TCG c.2268 22

As given in GenBank entries AC091516 (genomic data) and NM_025114 (mRNA)


Patients:


SLSN IVS21-4del9bp tccag ATA GAC>t____ ___ __C c.2218 IVS21

Homozygous
early onset Tapetoretinal Degeneration


Patients: F4 Turkish

(2)

References

  1. den Hollander,A.I., Koenekoop,R.K., Yzer,S., Lopez,I., Arends,M.L., Voesenek,K.E., Zonneveld,M.N., Strom,T.M., Meitinger,T., Brunner,H.G., Hoyng,C.B., van den Born,L.I., Rohrschneider,K., and Cremers,F.P. Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis. 2006; Am J Hum Genet. 79: 556-561. Link Goto Top
  2. Sayer,J.A., Otto,E.A., O'toole,J.F., Nurnberg,G., Kennedy,M.A., Becker,C., Hennies,H.C., Helou,J., Attanasio,M., Fausett,B.V., Utsch,B., Khanna,H., Liu,Y., Drummond,I., Kawakami,I., Kusakabe,T., Tsuda,M., Ma,L., Lee,H., Larson,R.G., Allen,S.J., Wilkinson,C.J., Nigg,E.A., Shou,C., Lillo,C., Williams,D.S., Hoppe,B., Kemper,M.J., Neuhaus,T., Parisi,M.A., Glass,I.A., Petry,M., Kispert,A., Gloy,J., Ganner,A., Walz,G., Zhu,X., Goldman,D., Nurnberg,P., Swaroop,A., Leroux,M.R., and Hildebrandt,F. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. 2006; Nat.Genet. 38: 674-681. Goto Top
  3. Valente,E.M., Silhavy,J.L., Brancati,F., Barrano,G., Krishnaswami,S.R., Castori,M., Lancaster,M.A., Boltshauser,E., Boccone,L., Al Gazali,L., Fazzi,E., Signorini,S., Louie,C.M., Bellacchio,E., Bertini,E., Dallapiccola,B., and Gleeson,J.G. Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. 2006; Nat.Genet. 38: 623-625. Link Goto Top

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