Format

Send to

Choose Destination
Ophthalmic Genet. 2011 Nov;32(4):245-9. doi: 10.3109/13816810.2011.587083. Epub 2011 Jun 15.

A novel 5-bp deletion in Clarin 1 in a family with Usher syndrome.

Author information

1
Department of Human Genetics, McGill University Health Centre, Montreal, Canada.

Abstract

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.

PMID:
21675857
DOI:
10.3109/13816810.2011.587083
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Taylor & Francis
Loading ...
Support Center