Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3.
Mol Vis
; 18: 3070-8, 2012.
Article
em En
| MEDLINE
| ID: mdl-23304067
ABSTRACT
PURPOSE:
To identify the genetic defect in Spanish families with Usher syndrome (USH) and probable involvement of the CLRN1 gene.METHODS:
DNA samples of the affected members of our cohort of USH families were tested using an USH genotyping array, and/or genotyped with polymorphic markers specific for the USH3A locus. Based on these previous analyses and clinical findings, CLRN1 was directly sequenced in 17 patients susceptible to carrying mutations in this gene.RESULTS:
Microarray analysis revealed the previously reported mutation p.Y63X in two unrelated patients, one of them homozygous for the mutation. After CLRN1 sequencing, we found two novel mutations, p.R207X and p.I168N. Both novel mutations segregated with the phenotype.CONCLUSIONS:
To date, 18 mutations in CLRN1 have been reported. In this work, we report two novel mutations and a third one previously identified in the Spanish USH sample. The prevalence of CLRN1 among our patients with USH is low.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
População Branca
/
Síndromes de Usher
/
Proteínas de Membrana
/
Mutação
Tipo de estudo:
Prognostic_studies
/
Risk_factors_studies
Limite:
Adult
/
Female
/
Humans
/
Male
/
Middle aged
País/Região como assunto:
Europa
Idioma:
En
Revista:
Mol Vis
Assunto da revista:
BIOLOGIA MOLECULAR
/
OFTALMOLOGIA
Ano de publicação:
2012
Tipo de documento:
Article
País de afiliação:
Espanha