Document Detail


Frequency of CEP290 c.2991_1655A>G mutation in 175 Spanish families affected with Leber congenital amaurosis and early-onset retinitis pigmentosa.
MedLine Citation:
PMID:  18079693     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Elena Vallespin; Miguel-Angel Lopez-Martinez; Diego Cantalapiedra; Rosa Riveiro-Alvarez; Jana Aguirre-Lamban; Almudena Avila-Fernandez; Cristina Villaverde; Maria-Jose Trujillo-Tiebas; Carmen Ayuso
Related Documents :
11804793 - Ranbp1, a velocardiofacial/digeorge syndrome candidate gene, is expressed at sites of m...
17108763 - Functional copper transport explains neurologic sparing in occipital horn syndrome.
20497763 - A female infant with frasier syndrome showing splice site mutation in wilms' tumor gene...
Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't     Date:  2007-11-27
Journal Detail:
Title:  Molecular vision     Volume:  13     ISSN:  1090-0535     ISO Abbreviation:  Mol. Vis.     Publication Date:  2007  
Date Detail:
Created Date:  2007-12-14     Completed Date:  2008-01-29     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9605351     Medline TA:  Mol Vis     Country:  United States    
Other Details:
Languages:  eng     Pagination:  2160-2     Citation Subset:  IM    
Affiliation:
Department of Genetics, Fundacion Jimenez Diaz-CIBERER, Madrid, Spain. cayuso@fjd.es
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Adenine
Age of Onset
Antigens, Neoplasm / genetics*
Blindness / congenital,  etiology,  genetics*
Cohort Studies
Gene Frequency*
Guanine
Humans
Mutation*
Neoplasm Proteins / genetics*
Phenotype
Retinal Diseases / complications,  genetics*
Retinitis Pigmentosa / epidemiology,  genetics*
Spain
Chemical
Reg. No./Substance:
0/Antigens, Neoplasm; 0/Cep290 protein, human; 0/Neoplasm Proteins; 73-24-5/Adenine; 73-40-5/Guanine

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  No association between OPA1 polymorphisms and primary open-angle glaucoma in three different populat...
Next Document:  A critical role of RICK/RIP2 polyubiquitination in Nod-induced NF-kappaB activation.