Ontology highlight
ABSTRACT:
SUBMITTER: den Hollander AI
PROVIDER: S-EPMC1559533 | biostudies-literature | 2006 Sep
REPOSITORIES: biostudies-literature
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]