Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss

Guney Bademci, Oscar Diaz-Horta, Shengru Guo, Duygu Duman, Derek Van Booven, Joseph Foster, Filiz Basak Cengiz, Susan Blanton, Mustafa Tekin

Research output: Contribution to journalArticle

21 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)658-661
Number of pages4
JournalGenetic Testing and Molecular Biomarkers
Volume18
Issue number9
DOIs
StatePublished - Sep 1 2014

ASJC Scopus subject areas

  • Genetics(clinical)

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