Naz Sadaf
School of Biological Sciences, University of the Punjab, Quaid-e-Azam Campus, Lahore, 54590, Pakistan.
Hum Genet. 2022 Apr;141(3-4):633-648. doi: 10.1007/s00439-021-02320-0. Epub 2021 Jul 25.
Approximately 14.5 million Pakistani individuals have a hearing loss and half of these cases may be due to genetic causes. Though significant progress has been made in uncovering genetic variants for recessively inherited nonsyndromic deafness, Pendred syndrome, and Usher syndromes, the same is not true for dominantly inherited hearing loss, most syndromic cases and deafness with complex inheritance patterns. Variants of 57 genes have been reported to cause nonsyndromic recessive deafness in Pakistan, though most are rare. Variants of just five genes GJB2, HGF, MYO7A, SLC26A4, and TMC1 together explain 57% of profound deafness while those of GJB2, MYO15A, OTOF, SLC26A4, TMC1, and TMPRSS3 account for 47% of moderate to severe hearing loss. In contrast, although variants of at least 39 genes have been implicated in different deafness syndromes, their prevalence in the population and the spectrum of mutations have not been explored. Furthermore, research on genetics of deafness has mostly focused on individuals from the Punjab province and needs to be extended to other regions of Pakistan. Identifying the genes and their variants causing deafness in all ethnic groups is important as it will pinpoint rare as well as recurrent mutations. This information may ultimately help in offering genetic counseling and future treatments.
约1450万巴基斯坦人有听力损失，其中一半病例可能由遗传因素导致。尽管在揭示隐性遗传性非综合征性耳聋、彭德莱德综合征和乌舍尔综合征的基因变异方面已取得重大进展，但对于显性遗传性听力损失、大多数综合征性病例以及具有复杂遗传模式的耳聋来说并非如此。据报道，57个基因的变异可导致巴基斯坦的非综合征性隐性耳聋，不过大多数都很罕见。仅GJB2、HGF、MYO7A、SLC26A4和TMC1这五个基因的变异共同解释了57%的重度耳聋，而GJB2、MYO15A、OTOF、SLC26A4、TMC1和TMPRSS3的变异则占中度至重度听力损失的47%。相比之下，尽管至少39个基因的变异与不同的耳聋综合征有关，但其在人群中的患病率和突变谱尚未得到研究。此外，耳聋遗传学研究大多集中在旁遮普省的个体，需要扩展到巴基斯坦的其他地区。确定所有族群中导致耳聋的基因及其变异很重要，因为这将找出罕见以及反复出现的突变。这些信息最终可能有助于提供遗传咨询和未来的治疗方法。
