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

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.

authors

Cengiz FB,Yilmazer R,Olgun L,Sennaroglu L,Kirazli T,Alper H,Olgun Y,Incesulu A,Atik T,Huesca-Hernandez F,Domínguez-Aburto J,González-Rosado G,Hernandez-Zamora E,Arenas-Sordo ML,Menendez I,Orhan KS,Avci H,Mahdieh N,Bon

doi

10.1016/j.ijporl.2017.08.006

subject

Has Abstract

pub_date

2017-10-01 00:00:00

pages

167-171

eissn

0165-5876

issn

1872-8464

pii

S0165-5876(17)30381-6

journal_volume

101

pub_type

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