Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.
until further notice
SourceAmerican Journal of Human Genetics, 79, 3, (2006), pp. 556-561
Article / Letter to editor
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American Journal of Human Genetics
SubjectDCN 1: Perception and Action; IGMD 3: Genomic disorders and inherited multi-system disorders; NCEBP 2: Evaluation of complex medical interventions; NCMLS 6: Genetics and epigenetic pathways of disease; UMCN 3.3: Neurosensory disorders
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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