ArticlePorto biomedical journal
Study of Met34Thr variant in nonsyndromic hearing loss in four Portuguese families.
Article in Porto biomedical journal. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Who cites it
1 citing paper in PubMed.
- Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
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3 authors.
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Abstract
objectiveThe 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.
methods13 cases from 4 unrelated Portuguese families were selected, in which one or more hearing-impaired members had Met34Thr variant.
resultsMet34Thr 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.
conclusionThe 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.
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