Genotype phenotype correlation analysis of the hearing loss patients with SLC26A4 mutation

SLC 26 A4突变可导致广泛的表型谱，从典型的Pendred综合征到与伊娃（前庭水管扩大）相关的非综合征性听力损失。SLC 26 A4突变的鉴定对于这些患者的高度准确诊断、适当的医疗管理和更适当的遗传咨询变得更加重要。在这项研究中，我们分析了100例在我们的基因库中登记的双侧伊娃听力患者。15人患有Pendred综合征，64人患有非综合征性听力损失。对SLC 26 A4进行突变分析以阐明突变谱。我们证实了SLC 26 A4突变患者的临床特征：先天性、波动性和进行性听力损失，通常与眩晕和/或甲状腺肿相关。但我们没有发现任何基因型-表型相关性。

Mutations in SLC26A4 can cause a broad phenotypic spectrum, from typical Pendred syndrome to non-syndromic hearing loss associated with EVA (enlarged vestibular aqueduct). The identification of SLC26A4 mutations has become more important for highly accurate diagnosis, proper medical management and more appropriate genetic counseling for these patients. In this study, we analyzed one-hundred hearing patients with bilateral EVA registered in our gene bank. Fifteen had Pendred syndrome and 64 had non-syndromic hearing loss. Mutation analysis for SLC26A4 was performed to clarify the mutation spectrum. We confirmed the clinical characteristics of patients with SLC26A4 mutations: congenital, fluctuating, and progressive hearing loss usually associated with vertigo and/or goiter. But we could not find any genotype-phenotype correlations.