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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

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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]

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