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

doi:10.1016/j.ijporl.2017.08.006

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Article

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

International journal of pediatric otorhinolaryngology - 1 Oct 2017

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

Abstract excerpt

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...

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Identifiers

PMID: 28964290
DOI: 10.1016/j.ijporl.2017.08.006
PMCID: PMC5679420

Genes

GJB2

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