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Molecular pathology of 6 novel GJB2 allelic variants detected in familial and sporadic Iranian non syndromic hearing loss cases

机译：在家族性和散发性伊朗非综合征性听力损失病例中检测到6个新的GJB2等位基因变体的分子病理学

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Background: Mutations of GJB2 gene encoding connexion 26 are the most common cause of hearing loss in many populations. A very wide spectrum of GJB2 gene mutations associated with hearing loss have been detected but pathogenic role has been tested only for a part of them. In this study, we have provided genetic evidence on the pathogenicity of our previously reported novel GJB2 allelic variants. Methods: The pathogenic role of GJB2 allelic variants were assessed using co segregation of each allelic variant with hearing loss in family members, absence of the allelic variants in control populations, coexistence with a second GJB2 mutation, nature of the amino acid substitution and evolutionary conservation of the appropriate amino acid. Results: The GJB2 allelic variants including 363delC, 327delGGinsA, H16R and G200R have been co segregated with autosomal recessive non syndromic hearing loss in five families and are not found in control subjects. The G130V and K102Q were found in heterozygous state in two deaf individuals. G130V results in an exchange a residue highly conserved among all the connexins but was found with a rate of 1% in control subjects and K102Q results in an exchange a residue not conserved among all the connexins and not identified in control subjects. Conclusion: We conclude that, 363delC, 327delGGinsA, H16R and G200R may be pathogenic. However, the pathogenicity and inheritance of K102Q and G130V can not be assessed clearly and remains to be identified.
机译：背景：在许多人群中，编码连接26的GJB2基因突变是导致听力损失的最常见原因。已检测到与听力损失相关的GJB2基因突变非常广泛，但仅对其中一部分的致病作用进行了测试。在这项研究中，我们提供了关于以前报道的新型GJB2等位基因变异的致病性的遗传证据。方法：使用每个等位基因变体与家庭成员的听力损失共分离，对照人群中不存在等位基因变体，与第二个GJB2突变共存，氨基酸取代的性质和进化保守性来评估GJB2等位基因变体的致病作用适当的氨基酸。结果：GJB2等位基因变体包括363delC，327delGGinsA，H16R和G200R已与常染色体隐性非综合征性听力损失共分离，在五个科目中均未发现。在两个聋哑个体中发现G130V和K102Q处于杂合状态。 G130V导致所有连接蛋白之间高度保守的残基交换，但在对照受试者中发现率为1％，而K102Q导致所有连接蛋白之间不保守且在对照对象中未鉴定的残基交换。结论：我们得出结论，363delC，327delGGinsA，H16R和G200R可能是致病的。但是，K102Q和G130V的致病性和遗传性尚不清楚，尚待确定。

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