| 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.