SLC26A4 基因突变与中重度听力损失患者。
SLC26A4 mutations in patients with moderate to severe hearing loss.
机构信息
School of Biological Sciences, University of the Punjab, Quaid-i-Azam Campus, Lahore 54590, Pakistan.
出版信息
Biochem Genet. 2013 Aug;51(7-8):514-23. doi: 10.1007/s10528-013-9582-0. Epub 2013 Mar 17.
Abstract
Mutations in SLC26A4 cause either syndromic or nonsyndromic hearing loss. We identified a link between hearing loss and DFNB4 in 3 of the 50 families participating in this study. Sequencing analysis revealed two SLC26A4 mutations, p.V239D and p.S57X, in affected members of the 3 families. These mutations have been previously reported in deaf individuals from the subcontinent, all of whom manifested profound deafness. The patients investigated in our study exhibited moderate to severe hearing loss. Our results show that inactivating SLC26A4 mutations that cause profound deafness can also be involved in the etiology of moderate to severe hearing loss. The type of mutation cannot predict the severity of the hearing loss in all cases, and there may be additional epistatic interactions that could modify the phenotype.
摘要
SLC26A4 基因突变可导致综合征型或非综合征型听力损失。在参与本研究的 50 个家族中的 3 个家族中，我们发现听力损失与 DFNB4 之间存在关联。测序分析显示，这 3 个家族的受影响成员存在 SLC26A4 突变 p.V239D 和 p.S57X。这些突变以前曾在来自次大陆的耳聋个体中报道过，他们都表现为重度耳聋。本研究中调查的患者表现为中重度听力损失。我们的结果表明，导致重度耳聋的 SLC26A4 失活突变也可能与中重度听力损失的病因有关。突变类型并不能预测所有情况下听力损失的严重程度，可能存在其他上位相互作用可以修饰表型。
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