title: Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss.
abstract: Genetic variants account for more than half of the cases with congenital or prelingual onset hearing loss. Autosomal recessive nonsyndromic hearing loss (ARNSHL) is the most common subgroup. Whole-exome sequencing (WES) has been shown to be effective detecting deafness-causing single-nucleotide variants (SNVs) and insertion/deletions (INDELs). After analyzing the WES data for causative SNVs or INDELs involving previously reported deafness genes in 78 families with ARNSHL, we searched for copy number variants (CNVs) through two different tools in 24 families that remained unresolved. We detected large homozygous deletions in STRC and OTOA in single families. Thus, causative CNVs in known deafness genes explain 2 out of 78 (2.6%) families in our sample set. We conclude that CNVs can be reliably detected through WES and should be the part of pipelines used to clarify genetic basis of hearing loss.
authors: 1 John P. Hussmann Institute for Human Genomics, Miller School of Medicine, University of Miami , Miami, Florida.
authors: Guney
authors: G
authors: Bademci
authors: Oscar
authors: O
authors: Diaz-Horta
authors: Shengru
authors: S
authors: Guo
authors: Duygu
authors: D
authors: Duman
authors: Derek
authors: D
authors: Van Booven
authors: Joseph
authors: J
authors: Foster
authors: Filiz Basak
authors: FB
authors: Cengiz
authors: Susan
authors: S
authors: Blanton
authors: Mustafa
authors: M
authors: Tekin
mesh_terms: D056915:DNA Copy Number Variations; D059472:Exome; D005190:Family; D005260:Female; D058851:GPI-Linked Proteins / Q000235:genetics*; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D055106:Genome-Wide Association Study; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D054643:INDEL Mutation; D036341:Intercellular Signaling Peptides and Proteins; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D010375:Pedigree
chemical_list: D058851:GPI-Linked Proteins; D036341:Intercellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C456027:OTOA protein, human; C499079:STRC protein, human