Document Detail


A Novel 5-bp Deletion in Clarin 1 in a Family with Usher Syndrome.
MedLine Citation:
PMID:  21675857     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Background: To identify the genetic defect in a Lebanese family with two sibs diagnosed with Usher Syndrome. Materials and Methods: Exome capture and sequencing were performed on DNA from one affected member using Agilent in solution bead capture, followed by Illumina sequencing. Results: This analysis revealed the presence of a novel homozygous 5-bp deletion, in Clarin 1 (CLRN1), a known gene responsible for Usher syndrome type III. The deletion is inherited from both parents and segregates with the disease phenotype in the family. The 5-bp deletion, c.301_305delGTCAT, p.Val101SerfsX27, is predicted to result in a frameshift and protein truncation after 27 amino acids. Sequencing all the coding regions of the CLRN1 gene in the proband did not reveal any other mutation or variant. Conclusion: Here we describe a novel deletion in CLRN1. Our data support previously reported intra familial variability in the clinical features of Usher syndrome type I and III.
Authors:
Elie Akoury; Elie El Zir; Ahmad Mansour; André Mégarbané; Jacek Majewski; Rima Slim
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-6-15
Journal Detail:
Title:  Ophthalmic genetics     Volume:  -     ISSN:  1744-5094     ISO Abbreviation:  -     Publication Date:  2011 Jun 
Date Detail:
Created Date:  2011-6-16     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9436057     Medline TA:  Ophthalmic Genet     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Affiliation:
Departments of Human Genetics and Obstetrics-Gynecology, McGill University Health Centre, Montreal, Canada.
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