Novel Pathogenic Variants Underlie Slc26A4-Related Hearing Loss In A Multiethnic Cohort

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Date
2017
Author
Cengiz, Filiz Basak
Yilmazer, Rasim
Olgun, Levent
Sennaroglu, Levent
Kirazli, Tayfun
Alper, Hudaver
Olgun, Yuksel
Incesulu, Armagan
Atik, Tahir
Huesca-Hernandez, Fabiola
Dominguez-Aburto, Juan
Gonzalez-Rosado, Garly
Hernandez-Zamora, Edgar
de la Luz Arenas-Sordo, Maria
Menendez, Ibis
Orhan, Kadir Serkan
Avci, Hakan
Mandieh, Nejat
Bonyadi, Mortaza
Foster, Joseph, II
Duman, Duygu
Ozkinay, Ferda
Blanton, Susan H.
Bademci, Guney
Tekin, Mustafa
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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. (C) 2017 Elsevier B.V. All rights reserved.
URI
https://doi.org/10.1016/j.ijporl.2017.08.006
http://hdl.handle.net/11655/16817
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