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新型致病变异是多民族队列中SLC26A4相关听力损失的基础。

Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort.

作者信息

Cengiz Filiz Basak, Yilmazer Rasim, Olgun Levent, Sennaroglu Levent, Kirazli Tayfun, Alper Hudaver, Olgun Yuksel, Incesulu Armagan, Atik Tahir, Huesca-Hernandez Fabiola, Domínguez-Aburto Juan, González-Rosado Garly, Hernandez-Zamora Edgar, Arenas-Sordo Maria de la Luz, Menendez Ibis, Orhan Kadir Serkan, Avci Hakan, Mahdieh Nejat, Bonyadi Mortaza, Foster Joseph, Duman Duygu, Ozkinay Ferda, Blanton Susan H, Bademci Guney, Tekin Mustafa

机构信息

John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL, USA.

Yeditepe University, Medicine Faculty, Department of Ear Nose Throat Surgery, Istanbul, Turkey.

出版信息

Int J Pediatr Otorhinolaryngol. 2017 Oct;101:167-171. doi: 10.1016/j.ijporl.2017.08.006. Epub 2017 Aug 8.

DOI:10.1016/j.ijporl.2017.08.006
PMID:28964290
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5679420/
Abstract

OBJECTIVES

The genetics of sensorineural hearing loss is characterized by a high degree of heterogeneity. Despite this heterogeneity, DNA variants found within SLC26A4 have been reported to be the second most common contributor after those of GJB2 in many populations.

METHODS

Whole exome sequencing and/or Sanger sequencing of SLC26A4 in 117 individuals with sensorineural hearing loss with or without inner ear anomalies but not with goiter from Turkey, Iran, and Mexico were performed.

RESULTS

We identified 27 unique SLC26A4 variants in 31 probands. The variants c.1673A > G (p.N558S), c.1708-1G > A, c.1952C > T (p.P651L), and c.2090-1G > A have not been previously reported. The p.N558S variant was detected in two unrelated Mexican families.

CONCLUSION

A range of SLC26A4 variants without a common recurrent mutation underlies SLC26A4-related hearing loss in Turkey, Iran, and Mexico.

摘要

目的

感音神经性听力损失的遗传学特征是高度异质性。尽管存在这种异质性，但在许多人群中，SLC26A4基因内发现的DNA变异据报道是仅次于GJB2基因变异的第二大常见致病变异。

方法

对来自土耳其、伊朗和墨西哥的117例有感音神经性听力损失且伴有或不伴有内耳异常但无甲状腺肿的个体进行了SLC26A4基因的全外显子组测序和/或Sanger测序。

结果

我们在31名先证者中鉴定出27种独特的SLC26A4变异。c.1673A>G（p.N558S）、c.1708-1G>A、c.1952C>T（p.P651L）和c.2090-1G>A这几种变异此前未见报道。p.N558S变异在两个不相关的墨西哥家族中被检测到。

结论

在土耳其、伊朗和墨西哥，一系列无常见复发性突变的SLC26A4变异是SLC26A4相关听力损失的基础。

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2
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Medicine (Baltimore). 2015 Dec;94(50):e2248. doi: 10.1097/MD.0000000000002248.
3
Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.通过外显子组测序进行的综合分析揭示了一个大型多民族队列中常染色体隐性非综合征性耳聋的遗传病因。
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6
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7
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