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


Bademci G., Foster J., Mahdieh N., Bonyadi M., DUMAN D., Cengiz F. B., ...Daha Fazla

GENETICS IN MEDICINE, cilt.18, sa.4, ss.364-371, 2016 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 18 Sayı: 4
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1038/gim.2015.89
  • Dergi Adı: GENETICS IN MEDICINE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.364-371
  • Anahtar Kelimeler: autosomal recessive, deafness, exome, next-generation sequencing, HEREDITARY HEARING-LOSS, COPY-NUMBER VARIATION, SYNDROME TYPE-I, USHER-SYNDROME, AUDITORY NEUROPATHY, MISSENSE MUTATIONS, PENDRED-SYNDROME, COMMON-CAUSE, PDS GENE, PROTEIN
  • Gazi Üniversitesi Adresli: Hayır

Özet

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).