Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort


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Bademci G., Foster J., MAHDIEH N., BONYADI M., Duman D., Cengiz F. B. , ...More

GENETICS IN MEDICINE, vol.18, no.4, pp.364-371, 2016 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 18 Issue: 4
  • Publication Date: 2016
  • Doi Number: 10.1038/gim.2015.89
  • Journal Name: GENETICS IN MEDICINE
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.364-371
  • Van Yüzüncü Yıl University Affiliated: Yes

Abstract

Purpose: Autosomal recessive nonsyndromic deafness (ARNSD) is characterized by a high degree of genetic heterogeneity, with reported mutations in 58 different genes. This study was designed to detect deafness-causing variants in a multiethnic cohort with ARNSD by using whole-exome sequencing (WES).