常染色体隐性非综合征性听力损失：一例伴有TRIOBP基因突变的病例报告
Autosomal Recessive Nonsyndromic Hearing Loss: A Case Report with a Mutation in TRIOBP Gene.
作者信息
Fardaei Majid, Sarrafzadeh Shaghayegh, Ghafouri-Fard Soudeh, Miryounesi Mohammad
机构信息
Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.
Department of Medical Genetics, Shahid Beheshti University of Medical sciences, Tehran, Iran.
出版信息
Int J Mol Cell Med. 2015 Fall;4(4):245-7.
Abstract
Hearing loss (HL) is the most common sensory defect. Various genetic as well as environmental factors have been shown to contribute in it. More than 100 loci have been recognized to cause autosomal recessive nonsyndromic hearing loss (ARNSHL). Here, we report a 6-year old female patient with bilateral pre-lingual HL in whom a mutation has been identified in TRIOBP gene (c.6362C>T, S2121L). In silico analysis has shown that this variant is possibly pathogenic. Although several mutations have been detected in this gene in various populations, this is the first report identifying TRIOBP mutation in Iranian population. Consequently, the results of the present study may be of importance in genetic counseling.
摘要
听力损失（HL）是最常见的感觉缺陷。各种遗传和环境因素都已被证明与之有关。已确认有100多个基因座可导致常染色体隐性非综合征性听力损失（ARNSHL）。在此，我们报告一名6岁双侧语前听力损失的女性患者，其TRIOBP基因中鉴定出一个突变（c.6362C>T，S2121L）。电子分析表明该变异可能具有致病性。尽管在不同人群中已在该基因中检测到多个突变，但这是在伊朗人群中鉴定出TRIOBP突变的首次报告。因此，本研究结果可能在遗传咨询中具有重要意义。
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