Frequency of CEP290 c.2991_1655A>G mutation in 175 Spanish families affected with Leber congenital amaurosis and early-onset retinitis pigmentosa.
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.
Vallespin
Elena
E
Department of Genetics, Fundacion Jimenez Diaz-CIBERER, Madrid, Spain. cayuso@fjd.es
Lopez-Martinez
Miguel-Angel
MA
Cantalapiedra
Diego
D
Riveiro-Alvarez
Rosa
R
Aguirre-Lamban
Jana
J
Avila-Fernandez
Almudena
A
Villaverde
Cristina
C
Trujillo-Tiebas
Maria-Jose
MJ
Ayuso
Carmen
C
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
D000951:Antigens, Neoplasm; D018797:Cell Cycle Proteins; C493903:Cep290 protein, human; D003598:Cytoskeletal Proteins; D009363:Neoplasm Proteins; D006147:Guanine; D000225:Adenine