title: A novel 5-bp deletion in Clarin 1 in a family with Usher syndrome.
abstract: BACKGROUND
  To identify the genetic defect in a Lebanese family with two sibs diagnosed with Usher Syndrome.
  
  
  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.
  
  
  CONCLUSIONS
  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.affiliation: Department of Human Genetics, McGill University Health Centre, Montreal, Canada.
authors.forename: Elie
authors.initials: E
authors.lastname: Akoury
authors.forename: Elie
authors.initials: E
authors.lastname: El Zir
authors.forename: Ahmad
authors.initials: A
authors.lastname: Mansour
authors.forename: André
authors.initials: A
authors.lastname: Mégarbané
authors.forename: Jacek
authors.initials: J
authors.lastname: Majewski
authors.forename: Rima
authors.initials: R
authors.lastname: Slim
mesh_terms: D000293:Adolescent; D020029:Base Pairing; D002648:Child; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D059472:Exome / Q000235:genetics; D016368:Frameshift Mutation / Q000235:genetics; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion / Q000235:genetics*; D035781:Siblings; D052245:Usher Syndromes / Q000235:genetics*
chemical_list: C437067:CLRN1 protein, human; D008565:Membrane Proteins; D004247:DNA