Meena Rahat, Ayub Muhammad
Human Molecular Genetic Laboratory, Institute of Biochemistry, University of Baluchistan, Quetta, Pakistan.
J Ayub Med Coll Abbottabad. 2017 Oct-Dec;29(4):671-676.
Hereditary hearing impairment is heterogeneous type of disorder which can be caused due to environmental as well as genetical factors. Two distinct types of hereditary hearing loss are syndromic or non-syndromic. Non-syndromic hearing loss is further categorized as autosomal recessive, autosomal dominant, X-linked and mitochondrial deafness. Autosomal recessive occurs more frequently as compared to autosomal dominant. Mutations in various genes are responsible for hereditary hearing impairment. To date, about 99 autosomal recessives and 67 autosomal dominant genes for deafness have been discovered. Some of important genes include GJB2, JGB6, GJB3 which encodes gap junction proteins, MYO7A, MYO15A encodes myosine proteins, OTOF encodes otoferlin, and SLC26A4 encodes anion exchanger protein. Up till now, the mutation in GJB2 gene occurs more frequently in different population of the world and cause autosomal recessive hearing impairment. The purpose of this review article was to explore the mutation and function of those muted genes which encode different type of protein and responsible either for autosomal recessive or autosomal dominant hearing impairment.
遗传性听力障碍是一种异质性疾病，可由环境因素和遗传因素引起。遗传性听力损失有两种不同类型，即综合征性或非综合征性。非综合征性听力损失进一步分为常染色体隐性、常染色体显性、X连锁和线粒体性耳聋。与常染色体显性相比，常染色体隐性更为常见。各种基因的突变是遗传性听力障碍的原因。迄今为止，已发现约99个常染色体隐性和67个常染色体显性耳聋基因。一些重要基因包括编码缝隙连接蛋白的GJB2、JGB6、GJB3，编码肌球蛋白蛋白的MYO7A、MYO15A，编码 otoferlin的OTOF，以及编码阴离子交换蛋白的SLC26A4。到目前为止，GJB2基因的突变在世界不同人群中更为频繁地出现，并导致常染色体隐性听力障碍。这篇综述文章的目的是探讨那些编码不同类型蛋白质、导致常染色体隐性或常染色体显性听力障碍的突变基因的突变和功能。
