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

Authors:
Guney Bademci
Guney Bademci
University of Miami
United States
Duygu Duman
Duygu Duman
Ankara University School of Medicine
Turkey
Joseph Foster
Joseph Foster
European Bioinformatics Institute
Filiz Basak Cengiz
Filiz Basak Cengiz
Ankara University School of Medicine
Turkey
Susan Blanton
Susan Blanton
University of Miami
United States

Genet Test Mol Biomarkers 2014 Sep 25;18(9):658-61. Epub 2014 Jul 25.

1 John P. Hussmann Institute for Human Genomics, Miller School of Medicine, University of Miami , Miami, Florida.

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.

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http://dx.doi.org/10.1089/gtmb.2014.0121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4150376PMC
September 2014
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