Different Rates of the SLC26A4-Related Hearing Loss in Two Indigenous Peoples of Southern Siberia (Russia).
Different Rates of the SLC26A4-Related Hearing Loss in Two Indigenous Peoples of Southern Siberia (Russia).
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DOI：
10.3390/diagnostics11122378
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发表时间：
2021-12-17
期刊：
影响因子：
--
通讯作者：
Posukh OL
中科院分区：
文献类型：
--
作者：
Danilchenko VY;Zytsar MV;Maslova EA;Bady-Khoo MS;Barashkov NA;Morozov IV;Bondar AA;Posukh OL
众所周知，遗传性听力损失 (HL) 具有高度的基因座/等位基因异质性，并且不同 HL 形式的患病率在全世界人群中存在显着差异。研究遗传性 HL 的特定区域景观对于当地医疗保健和医学遗传服务非常重要。导致非综合征性隐性耳聋 (DFNB4) 和 Pendred 综合征的 SLC26A4 基因突变是遗传性 HL 的常见遗传原因，至少在一些亚洲人群中是这样。我们首次提出了通过桑格测序对属于两个邻近突厥语西伯利亚土著民族（图维尼亚人和阿尔泰人）的一大群病因不明的 HL 患者的 SLC26A4 基因进行彻底分析的结果。所有入组的图维尼亚患者中，有 28.2% (62/220) 建立了基于双等位基因 SLC26A4 突变的明确基因诊断，而阿尔泰患者中这一比例为 4.3% (4/93)。图维尼亚患者中 SLC26A4 相关 HL 的发生率似乎是全球人群中最高的之一。 SLC26A4 突变谱的特点是存在亚洲特有的突变 c.919-2A>G 和 c.2027T>A (p.Leu676Gln)，主要见于图维尼亚患者，以及 c.2168A>G (p.His723Arg)，仅在阿尔泰患者中检测到。此外，在图维尼亚患者中高频率地发现了一种新的致病性变异 c.1545T>G (p.Phe515Leu)。总体而言，根据本研究和我们之前的研究结果，我们能够揭示 50.5% 的图维尼亚患者和 34.5% 的阿尔泰患者发生 HL 的遗传原因。
Hereditary hearing loss (HL) is known to be highly locus/allelic heterogeneous, and the prevalence of different HL forms significantly varies among populations worldwide. Investigation of region-specific landscapes of hereditary HL is important for local healthcare and medical genetic services. Mutations in the SLC26A4 gene leading to nonsyndromic recessive deafness (DFNB4) and Pendred syndrome are common genetic causes of hereditary HL, at least in some Asian populations. We present for the first time the results of a thorough analysis of the SLC26A4 gene by Sanger sequencing in the large cohorts of patients with HL of unknown etiology belonging to two neighboring indigenous Turkic-speaking Siberian peoples (Tuvinians and Altaians). A definite genetic diagnosis based on the presence of biallelic SLC26A4 mutations was established for 28.2% (62/220) of all enrolled Tuvinian patients vs. 4.3% (4/93) of Altaian patients. The rate of the SLC26A4-related HL in Tuvinian patients appeared to be one of the highest among populations worldwide. The SLC26A4 mutational spectrum was characterized by the presence of Asian-specific mutations c.919-2A>G and c.2027T>A (p.Leu676Gln), predominantly found in Tuvinian patients, and c.2168A>G (p.His723Arg), which was only detected in Altaian patients. In addition, a novel pathogenic variant c.1545T>G (p.Phe515Leu) was found with high frequency in Tuvinian patients. Overall, based on the findings of this study and our previous research, we were able to uncover the genetic causes of HL in 50.5% of Tuvinian patients and 34.5% of Altaian patients.
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影响因子：
0.6
作者：
Dzhemilova, L. U.;Posukh, O. L.;Khusnutdinova, E. K.
通讯作者：
Khusnutdinova, E. K.
影响因子：
4.8
作者：
Gillam, MP;Sidhaye, AR;Kopp, P
通讯作者：
Kopp, P
中国北方受试者语前耳聋的 GJB2、SLC26A4 和线粒体 DNA A1555G 突变
影响因子：
1.4
作者：
Guo, Yu-Fen;Liu, Xiao-Wen;Wang, Qiu-Ju
通讯作者：
Wang, Qiu-Ju
影响因子：
8.8
作者：
Dai, Pu;Li, Qi;Wu, Bai-Lin
通讯作者：
Wu, Bai-Lin
影响因子：
1.6
作者：
Lu YJ;Yao J;Wei QJ;Xing GQ;Cao X
通讯作者：
Cao X