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Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.

Authors: Den Hollander, AI  Koenekoop, RK  Yzer, S  Lopez, I  Arends, ML  Voesenek, KE  Zonneveld, MN  Strom, TM  Meitinger, T  Brunner, HG  Hoyng, CB  Van den Born, LI  Rohrschneider, K  Cremers, FP 
Citation: den Hollander AI, etal., Am J Hum Genet. 2006 Sep;79(3):556-61. Epub 2006 Jul 11.
Pubmed: (View Article at PubMed) PMID:16909394
DOI: Full-text: DOI:10.1086/507318

Leber congenital amaurosis (LCA) is one of the main causes of childhood blindness. To date, mutations in eight genes have been described, which together account for approximately 45% of LCA cases. We localized the genetic defect in a consanguineous LCA-affected family from Quebec and identified a splice defect in a gene encoding a centrosomal protein (CEP290). The defect is caused by an intronic mutation (c.2991+1655A-->G) that creates a strong splice-donor site and inserts a cryptic exon in the CEP290 messenger RNA. This mutation was detected in 16 (21%) of 76 unrelated patients with LCA, either homozygously or in combination with a second deleterious mutation on the other allele. CEP290 mutations therefore represent one of the most frequent causes of LCA identified so far.

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CRRD Object Information
CRRD ID: 11537378
Created: 2016-10-03
Species: All species
Last Modified: 2016-10-03
Status: ACTIVE



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