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Am J Hum Genet. 2006 Sep;79(3):556-61. Epub 2006 Jul 11.

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

Author information

1
Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands. a.denhollander@antrg.umcn.nl

Abstract

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.

PMID:
16909394
PMCID:
PMC1559533
DOI:
10.1086/507318
[Indexed for MEDLINE]
Free PMC Article

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