Frequency of CEP290 c.2991_1655A>G mutation in 175 Spanish families affected with Leber congenital amaurosis and early-onset retinitis pigmentosa

• Published in: Molecular vision 2007-11, Vol.13, p.2160-2162
• Main Authors: Vallespin, Elena, Lopez-Martinez, Miguel-Angel, Cantalapiedra, Diego, Riveiro-Alvarez, Rosa, Aguirre-Lamban, Jana, Avila-Fernandez, Almudena, Villaverde, Cristina, Trujillo-Tiebas, Maria-Jose, Ayuso, Carmen
• Format: Article
• Language: English
• Subjects: Adenine; Age of Onset; Antigens, Neoplasm - genetics; Blindness - congenital; Blindness - etiology; Blindness - genetics; Cohort Studies; Gene Frequency; Guanine; Humans; Mutation; Neoplasm Proteins - genetics; Phenotype; Retinal Diseases - complications; Retinal Diseases - genetics; Retinitis Pigmentosa - epidemiology; Retinitis Pigmentosa - genetics; Spain
• ISSN: 1090-0535

Leber congenital amaurosis (LCA) is the most severe inherited retinopathy with the earliest age of onset. To date, eleven genes have been reported to cause the non-syndromic LCA phenotype. The CEP290 gene has been shown to account for Joubert and Senior-Loken syndromes and to represent a frequent cause of non-syndromic LCA. The aim of the present study was to establish the prevalence of CEP290 c.2991_1655A>G in non-syndromic Spanish patients having LCA or early-onset retinitis pigmentosa (RP). We used automated sequencing to examine 49 non-syndromic Spanish families with LCA and 126 Spanish families with early-onset RP for the CEP290 c.2991_1655A>G mutation. As a control, we recruited 50 unrelated Spanish healthy individuals. The frequencies of mutated alleles were 6% in LCA cases and 0% in early-onset RP and healthy individual controls. These results were compared to other populations. The CEP290 c.2991_1655A>G mutation frequency in Spanish non-syndromic LCA families is lower than that of other countries.