Résumé
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.
langue originale | Anglais |
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Pages (de - à) | 245-249 |
Nombre de pages | 5 |
journal | Ophthalmic Genetics |
Volume | 32 |
Numéro de publication | 4 |
Les DOIs | |
état | Publié - 1 nov. 2011 |
Modification externe | Oui |