Unknown

Dataset Information

0

Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss.

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 (Illum?na TruSightTM 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.

SUBMITTER: Atik T 

PROVIDER: S-EPMC4641619 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss.

Atik Tahir T   Onay Huseyin H   Aykut Ayca A   Bademci Guney G   Kirazli Tayfun T   Tekin Mustafa M   Ozkinay Ferda F  

PloS one 20151111 11

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 (Illumına TruSightTM Exome) covering 2761 genes that  ...[more]

Similar Datasets

Unknown Autosomal recessive nonsyndromic deafness genes: a review.
| S-EPMC3683827 | biostudies-literature
Unknown MITF variants cause nonsyndromic sensorineural hearing loss with autosomal recessive inheritance.
| S-EPMC7391749 | biostudies-literature
Unknown Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss.
| S-EPMC7767568 | biostudies-literature
Unknown Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss.
| S-EPMC7572817 | biostudies-literature
Unknown Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families.
| S-EPMC3727941 | biostudies-literature
Unknown A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss.
| S-EPMC6745279 | biostudies-literature
Unknown Identification of Novel Compound Heterozygous <i>MYO15A</i> Mutations in Two Chinese Families with Autosomal Recessive Nonsyndromic Hearing Loss.
| S-EPMC8140830 | biostudies-literature
Unknown Five Novel Mutations in LOXHD1 Gene Were Identified to Cause Autosomal Recessive Nonsyndromic Hearing Loss in Four Chinese Families.
| S-EPMC7049443 | biostudies-literature
Unknown Single nucleotide polymorphisms of the GJB2 and GJB6 genes are associated with autosomal recessive nonsyndromic hearing loss.
| S-EPMC4449875 | biostudies-literature
Unknown Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.
| S-EPMC4733433 | biostudies-literature