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

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

Authors: Vallespin, E  Lopez-Martinez, MA  Cantalapiedra, D  Riveiro-Alvarez, R  Aguirre-Lamban, J  Avila-Fernandez, A  Villaverde, C  Trujillo-Tiebas, MJ  Ayuso, C 
Citation: Vallespin E, etal., Mol Vis. 2007 Nov 27;13:2160-2.
RGD ID: 11537381
Pubmed: PMID:18079693   (View Abstract at PubMed)

PURPOSE: 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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Leber congenital amaurosis 10  IAGP 11537381 RGD 
Leber congenital amaurosis 10  ISOCEP290 (Homo sapiens)11537381; 11537381 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Cep290  (centrosomal protein 290)

Genes (Mus musculus)
Cep290  (centrosomal protein 290)

Genes (Homo sapiens)
CEP290  (centrosomal protein 290)


Additional Information