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

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.

SUBMITTER: den Hollander AI

PROVIDER: S-EPMC1559533 | biostudies-literature | 2006 Sep

REPOSITORIES: biostudies-literature

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

den Hollander Anneke I AI Koenekoop Robert K RK Yzer Suzanne S Lopez Irma I Arends Maarten L ML Voesenek Krysta E J KE Zonneveld Marijke N MN Strom Tim M TM Meitinger Thomas T Brunner Han G HG Hoyng Carel B CB van den Born L Ingeborgh LI Rohrschneider Klaus K Cremers Frans P M FP

American journal of human genetics 20060711 3

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 ...[more]

PMID: 16909394

Dataset Information

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

Publications

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

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