Unknown

Dataset Information

0

Study of Met34Thr variant in nonsyndromic hearing loss in four Portuguese families.

ABSTRACT: Objective:The purpose of this work was to characterize the Met34Thr variant in a group of patients with nonsyndromic hearing loss, in order to establish a genotype-phenotype correlation. Methods:13 cases from 4 unrelated Portuguese families were selected, in which one or more hearing-impaired members had Met34Thr variant. Results:Met34Thr variant was identified in 11/13 cases. Two cases have an additional mutation - Val153Ile and 35delG. Hearing loss was mild in 2 patients (Met34Thr/Val153Ile; Met34Thr/Met34Thr), moderate in 3(Met34Thr/WT; Met34Thr/35delG; Met34Thr/Met34Thr), severe in 2 (2 Met34Thr/WT) and profound in 1 (Met34Thr/WT). Three individuals with Met34Thr had normal hearing thresholds. Conclusion:The present data corroborate the hypothesis that the Met34Thr variant is associated with mild-to-severe forms of deafness and that this variant seems to segregate with a dominant hearing loss with incomplete penetrance and a variable expression of the phenotype. However, other factors are likely to also have a pathologic effect.

SUBMITTER: Doria M 

PROVIDER: S-EPMC6806946 | biostudies-literature | 2016 Mar-Apr

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

Study of Met34Thr variant in nonsyndromic hearing loss in four Portuguese families.

Dória Mariana M   Fernandes Susana S   Moura Carla Pinto CP  

Porto biomedical journal 20160301 1

<h4>Objective</h4>The purpose of this work was to characterize the Met34Thr variant in a group of patients with nonsyndromic hearing loss, in order to establish a genotype-phenotype correlation.<h4>Methods</h4>13 cases from 4 unrelated Portuguese families were selected, in which one or more hearing-impaired members had Met34Thr variant.<h4>Results</h4>Met34Thr variant was identified in 11/13 cases. Two cases have an additional mutation - Val153Ile and 35delG. Hearing loss was mild in 2 patients  ...[more]

Similar Datasets

Unknown Genetic Etiology Study of Ten Chinese Families with Nonsyndromic Hearing Loss.
| S-EPMC6079373 | 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 Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss.
| S-EPMC5444417 | biostudies-literature
Unknown Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss.
| S-EPMC4641619 | biostudies-literature
Unknown Corrigendum to "Five Novel Mutations in LOXHD1 Gene Were Identified to Cause Autosomal Recessive Nonsyndromic Hearing Loss in Four Chinese Families".
| S-EPMC7538254 | biostudies-literature
Unknown A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss.
| S-EPMC6745279 | biostudies-literature
Unknown Four Novel Variants in <i>POU4F3</i> Cause Autosomal Dominant Nonsyndromic Hearing Loss.
| S-EPMC7349627 | biostudies-literature
Unknown A dominant variant in the PDE1C gene is associated with nonsyndromic hearing loss.
| S-EPMC6560636 | biostudies-literature
Unknown Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37.
| S-EPMC6431578 | biostudies-literature
Unknown A novel missense variant in CEACAM16 gene causes autosomal dominant nonsyndromic hearing loss.
| S-EPMC9314904 | biostudies-literature