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

Publication date: October 2017
Source:International Journal of Pediatric Otorhinolaryngology, Volume 101
Author(s): Filiz Basak Cengiz, Rasim Yilmazer, Levent Olgun, Levent Sennaroglu, Tayfun Kirazli, Hudaver Alper, Yuksel Olgun, Armagan Incesulu, Tahir Atik, Fabiola Huesca-Hernandez, Juan Domínguez-Aburto, Garly González-Rosado, Edgar Hernandez-Zamora, Maria de la Luz Arenas-Sordo, Ibis Menendez, Kadir Serkan Orhan, Hakan Avci, Nejat Mahdieh, Mortaza Bonyadi, Joseph Foster, Duygu Duman, Ferda Ozkinay, Susan H. Blanton, Guney Bademci, Mustafa Tekin
ObjectivesThe 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.MethodsWhole 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.ResultsWe 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.ConclusionA range of SLC26A4 variants without a common recurrent mutation underlies SLC26A4-related hearing loss in Turkey, Iran, and Mexico.



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