title: Frequency of CEP290 c.2991_1655A>G mutation in 175 Spanish families affected with Leber congenital amaurosis and early-onset retinitis pigmentosa.
abstract: OBJECTIVE
  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).
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  The CEP290 c.2991_1655A>G mutation frequency in Spanish non-syndromic LCA families is lower than that of other countries.
authors: Department of Genetics, Fundacion Jimenez Diaz-CIBERER, Madrid, Spain. cayuso@fjd.es
authors: Elena
authors: E
authors: Vallespin
authors: Miguel-Angel
authors: MA
authors: Lopez-Martinez
authors: Diego
authors: D
authors: Cantalapiedra
authors: Rosa
authors: R
authors: Riveiro-Alvarez
authors: Jana
authors: J
authors: Aguirre-Lamban
authors: Almudena
authors: A
authors: Avila-Fernandez
authors: Cristina
authors: C
authors: Villaverde
authors: Maria-Jose
authors: MJ
authors: Trujillo-Tiebas
authors: Carmen
authors: C
authors: Ayuso
mesh_terms: D000225:Adenine; D017668:Age of Onset; D000951:Antigens, Neoplasm / Q000235:genetics*; D001766:Blindness / Q000151:congenital / Q000209:etiology / Q000235:genetics*; D018797:Cell Cycle Proteins; D015331:Cohort Studies; D003598:Cytoskeletal Proteins; D005787:Gene Frequency; D006147:Guanine; D006801:Humans; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*; D010641:Phenotype; D012164:Retinal Diseases / Q000150:complications / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000453:epidemiology / Q000235:genetics*; D013030:Spain
chemical_list: D000951:Antigens, Neoplasm; D018797:Cell Cycle Proteins; C493903:Cep290 protein, human; D003598:Cytoskeletal Proteins; D009363:Neoplasm Proteins; D006147:Guanine; D000225:Adenine