四个葡萄牙家庭非综合征性听力损失中Met34Thr变异体的研究。
Study of Met34Thr variant in nonsyndromic hearing loss in four Portuguese families.
作者信息
Dória Mariana, Fernandes Susana, Moura Carla Pinto
机构信息
Faculty of Medicine, University of Porto, Porto, Portugal.
Department of Human Genetics, Faculty of Medicine, University of Porto/São João Hospital Center, Porto, Portugal.
出版信息
Porto Biomed J. 2016 Mar-Apr;1(1):32-35. doi: 10.1016/j.pbj.2015.07.001. Epub 2016 Mar 1.
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.
目的
本研究旨在对一组非综合征性听力损失患者中的Met34Thr变异进行特征分析，以建立基因型与表型的相关性。
方法
从4个无血缘关系的葡萄牙家庭中选取13例病例，其中一个或多个听力受损成员存在Met34Thr变异。
结果
13例中有11例检测到Met34Thr变异。2例有额外突变——Val153Ile和35delG。2例患者听力损失为轻度（Met34Thr/Val153Ile；Met34Thr/Met34Thr），3例为中度（Met34Thr/WT；Met34Thr/35delG；Met34Thr/Met34Thr），2例为重度（2例Met34Thr/WT），1例为极重度（Met34Thr/WT）。3例携带Met34Thr变异的个体听力阈值正常。
结论
目前的数据证实了以下假设，即Met34Thr变异与轻至重度耳聋形式相关，且该变异似乎与显性听力损失相关，具有不完全外显率和表型的可变表达。然而，其他因素可能也具有病理作用。
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