Comprehensive analysis of deafness genes in families with autosomal recessive nonsyndromic hearing loss

Tahir Atik, Huseyin Onay, Ayca Aykut, Guney Bademci, Tayfun Kirazli, Mustafa Tekin, Ferda Ozkinay

Research output: Contribution to journalArticle

24 Citations (Scopus)

Abstract

Comprehensive genetic testing has the potential to become the standard of care for individuals with hearing loss. In this study, we investigated the genetic etiology of autosomal recessive nonsyndromic hearing loss (ARNSHL) in a Turkish cohort including individuals with cochlear implant, who had a pedigree suggestive of an autosomal recessive inheritance. A workflow including prescreening of GJB2 and a targeted next generation sequencing panel (Illumina TruSight Exome) covering 2761 genes that we briefly called as mendelian exome sequencing was used. This panel includes 102 deafness genes and a number of genes causing Mendelian disorders. Using this approach, we identified causative variants in 21 of 29 families. Three different GJB2 variants were present in seven families. Remaining 14 families had 15 different variants in other known NSHL genes (MYO7A, MYO15A, MARVELD2, TMIE, DFNB31, LOXHD1, GPSM2, TMC1, USH1G, CDH23). Of these variants, eight are novel. Mutation detection rate of our workflow is 72.4%, confirming the usefulness of targeted sequencing approach in NSHL.

Original languageEnglish (US)
Article numbere0142154
JournalPLoS One
Volume10
Issue number11
DOIs
StatePublished - Nov 1 2015

Fingerprint

deafness
Audition
hearing
Deafness
Genes
Exome
Workflow
genes
Cochlear implants
Cochlear Implants
Genetic Testing
Mutation Rate
Pedigree
Standard of Care
Hearing Loss
pedigree
etiology
inheritance (genetics)
mutation
Nonsyndromic Deafness

ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)

Cite this

Comprehensive analysis of deafness genes in families with autosomal recessive nonsyndromic hearing loss. / Atik, Tahir; Onay, Huseyin; Aykut, Ayca; Bademci, Guney; Kirazli, Tayfun; Tekin, Mustafa; Ozkinay, Ferda.

In: PLoS One, Vol. 10, No. 11, e0142154, 01.11.2015.

Research output: Contribution to journalArticle

Atik, Tahir ; Onay, Huseyin ; Aykut, Ayca ; Bademci, Guney ; Kirazli, Tayfun ; Tekin, Mustafa ; Ozkinay, Ferda. / Comprehensive analysis of deafness genes in families with autosomal recessive nonsyndromic hearing loss. In: PLoS One. 2015 ; Vol. 10, No. 11.
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