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

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 ca...

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Bibliographic Details
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
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Summary: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.
ISSN:1090-0535