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

被引：15

作者：

Cengiz, Filiz Basak ^{[1
]}

Yilmazer, Rasim ^{[2
]}

Olgun, Levent ^{[3
]}

Sennaroglu, Levent ^{[4
]}

Kirazli, Tayfun ^{[5
]}

Alper, Hudaver ^{[6
]}

Olgun, Yuksel ^{[3
]}

Incesulu, Armagan ^{[7
]}

Atik, Tahir ^{[8
]}

Huesca-Hernandez, Fabiola ^{[9
]}

Dominguez-Aburto, Juan ^{[9
]}

Gonzalez-Rosado, Garly ^{[10
]}

Hernandez-Zamora, Edgar ^{[9
]}

de la Luz Arenas-Sordo, Maria ^{[9
]}

Menendez, Ibis ^{[1
]}

Orhan, Kadir Serkan ^{[11
]}

Avci, Hakan ^{[11
]}

Mandieh, Nejat ^{[12
]}

Bonyadi, Mortaza ^{[13
]}

Foster, Joseph, II ^{[1
]}

Duman, Duygu ^{[14
]}

Ozkinay, Ferda ^{[8
]}

Blanton, Susan H. ^{[1
,15
,16
]}

Bademci, Guney ^{[1
]}

Tekin, Mustafa ^{[1
,15
,16
]}

机构：

[1] Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA

[2] Yeditepe Univ, Med Fac, Dept Ear Nose Throat Surg, Istanbul, Turkey

[3] Bozyaka Training & Res Hosp, Dept Otorhinolaryngol, TR-35170 Izmir, Turkey

[4] Hacettepe Univ, Dept Otorinolaryngol, Sch Med, Ankara, Turkey

[5] Ege Univ, Dept Otolaryngol, Sch Med, TR-35040 Izmir, Turkey

[6] Ege Univ, Dept Radiol, Sch Med, TR-35040 Izmir, Turkey

[7] Eskisehir Osmangazi Univ, Dept Otorinolaryngol Head & Neck Surg, Eskisehir, Turkey

[8] Ege Univ, Sch Med, Dept Pediat, Div Genet, TR-35040 Izmir, Turkey

[9] Natl Inst Rehabil, Res Clin Subdirect, Mexico City, DF, Mexico

[10] Natl Inst Rehabil, Comp Tomog Serv, Mexico City, DF, Mexico

[11] Istanbul Univ, Dept Otolaryngol & Head & Neck Surg, Istanbul Fac Med, Istanbul, Turkey

[12] Iran Univ Med Sci, Rajaie Cardiovasc Med & Res Ctr, Tehran, Iran

[13] Univ Tabriz, Ctr Excellence Biodivers, Fac Nat Sci, Tabriz, Iran

[14] Ankara Univ, Sch Med, Div Pediat Genet, Ankara, Turkey

[15] Univ Miami, Miller Sch Med, Dept Human Genet, Dr John T Macdonald Fdn, Miami, FL 33136 USA

[16] Univ Miami, Miller Sch Med, Dept Otorhinolaryngol, Miami, FL 33136 USA

来源：

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY | 2017年 / 101卷

基金：

美国国家卫生研究院;

关键词：

Hearing loss; SLC26A4; Whole exome sequencing; ENLARGED VESTIBULAR AQUEDUCT; PENDRED-SYNDROME; MOLECULAR ANALYSIS; PDS GENE; SLC26A4; GENE; MUTATIONS; FAMILIES; DEAFNESS; SPECTRUM; DFNB4;

D O I：

10.1016/j.ijporl.2017.08.006

中图分类号：

R76 [耳鼻咽喉科学];

学科分类号：

100213 ;

摘要：

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. (C) 2017 Elsevier B.V. All rights reserved.

引用

页码：167 / 171

页数：5

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