Unknown

Dataset Information

0

Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness.

ABSTRACT: Identification of the causative mutations in patients affected by autosomal recessive non syndromic deafness (DFNB forms), is demanding due to genetic heterogeneity. After the exclusion of GJB2 mutations and other mutations previously reported in Tunisian deaf patients, we performed whole exome sequencing in patients affected with severe to profound deafness, from four unrelated consanguineous Tunisian families. Four biallelic non previously reported mutations were identified in three different genes: a nonsense mutation, c.208C>T (p.R70X), in LRTOMT, a missense mutation, c.5417T>C (p.L1806P), in MYO15A and two splice site mutations, c.7395+3G>A, and c.2260+2T>A, in MYO15A and TMC1 respectively. We thereby provide evidence that whole exome sequencing is a powerful, cost-effective screening tool to identify mutations causing recessive deafness in consanguineous families.

SUBMITTER: Riahi Z 

PROVIDER: S-EPMC4057390 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

Identification of the causative mutations in patients affected by autosomal recessive non syndromic deafness (DFNB forms), is demanding due to genetic heterogeneity. After the exclusion of GJB2 mutations and other mutations previously reported in Tunisian deaf patients, we performed whole exome sequencing in patients affected with severe to profound deafness, from four unrelated consanguineous Tunisian families. Four biallelic non previously reported mutations were identified in three different  ...[more]

Similar Datasets

Unknown Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.
| S-EPMC6115658 | biostudies-literature
Unknown Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients.
| S-EPMC4370767 | biostudies-literature
Unknown Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.
| S-EPMC4332576 | biostudies-literature
Unknown Whole-Exome Sequencing of 24 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Keratoconus.
| S-EPMC10606385 | biostudies-literature
Unknown Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts.
| S-EPMC10380485 | biostudies-literature
Unknown Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.
| S-EPMC4840095 | biostudies-literature
Unknown Whole exome sequencing in Finnish families identifies new candidate genes for osteoarthritis.
| S-EPMC6114922 | biostudies-literature
Unknown Whole-exome sequencing identifies genes associated with Tourette's disorder in multiplex families.
| S-EPMC8501157 | 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 Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease.
| S-EPMC5412122 | biostudies-literature