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.

大约 1450 万巴基斯坦人有听力损失，其中一半病例可能是由于遗传原因。尽管在揭示隐性遗传非综合征性耳聋、Pendred 综合征和 Usher 综合征的遗传变异方面取得了重大进展，但对于显性遗传性听力损失、大多数综合征病例和具有复杂遗传模式的耳聋，情况并非如此。据报道，巴基斯坦有 57 个基因的变异导致非综合征性隐性耳聋，但大多数都很罕见。只有五个基因GJB2、HGF、MYO7A 、 SLC26A4和TMC1的变体共同解释了 57% 的重度耳聋，而GJB2、MYO15A 、 OTOF、SLC26A4、TMC1和TMPRSS3占中度至重度听力损失的 47%。相比之下，尽管至少 39 个基因的变体与不同的耳聋综合征有关，但尚未探索它们在人群中的流行程度和突变谱。此外，耳聋遗传学研究主要集中在旁遮普省的个人身上，需要扩展到巴基斯坦的其他地区。识别在所有种族群体中导致耳聋的基因及其变异很重要，因为它将查明罕见的和经常性的突变。这些信息最终可能有助于提供遗传咨询和未来的治疗。