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

WOS: 000413713100030PubMed ID: 28964290Objectives: 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.National Institutes of Health grantsUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USA [R01DC009645, R01DC012836]This work was supported by National Institutes of Health grants R01DC009645 and R01DC012836 to M.T