Filiz Basak Cengiz1, Rasim Yilmazer2, Levent Olgun3, Levent Sennaroglu4, Tayfun Kirazli5, Hudaver Alper6, Yuksel Olgun3, Armagan Incesulu7, Tahir Atik8, Fabiola Huesca-Hernandez9, Juan Domínguez-Aburto9, Garly González-Rosado10, Edgar Hernandez-Zamora9, Maria de la Luz Arenas-Sordo9, Ibis Menendez1, Kadir Serkan Orhan11, Hakan Avci11, Nejat Mahdieh12, Mortaza Bonyadi13, Joseph Foster1, Duygu Duman14, Ferda Ozkinay8, Susan H Blanton15, Guney Bademci1, Mustafa Tekin16. 1. John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL, USA. 2. Yeditepe University, Medicine Faculty, Department of Ear Nose Throat Surgery, Istanbul, Turkey. 3. Department of Otorhinolaryngology, Bozyaka Training and Research Hospital, Bozyaka, Izmir, 35170, Turkey. 4. Department of Otorinolaryngology, Hacettepe University School of Medicine, Ankara, Turkey. 5. Department of Otolaryngology, Ege University School of Medicine, Izmir, 35040, Turkey. 6. Department of Radiology, Ege University School of Medicine, Izmir, 35040, Turkey. 7. Department of Otorinolaryngology, Head and Neck Surgery, Eskisehir Osmangazi University, Eskisehir, Turkey. 8. Division of Genetics, Department of Pediatrics, Ege University School of Medicine, Izmir, 35040, Turkey. 9. Research Clinical Subdirection, National Institute of Rehabilitation, Mexico City, Mexico. 10. Computed Tomography Service, National Institute of Rehabilitation, Mexico City, Mexico. 11. Department of Otolaryngology and Head and Neck Surgery, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey. 12. Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran. 13. Faculty of Natural Sciences, Center of Excellence for Biodiversity, University of Tabriz, Tabriz, Iran. 14. Division of Pediatric Genetics, Ankara University School of Medicine, Ankara, Turkey. 15. John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL, USA; Dr. John T. Macdonald Foundation, Department of Human Genetics, University of Miami, Miller School of Medicine, Miami, FL, USA; Department of Otorhinolaryngology, University of Miami, Miller School of Medicine, Miami, FL, USA. 16. John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL, USA; Dr. John T. Macdonald Foundation, Department of Human Genetics, University of Miami, Miller School of Medicine, Miami, FL, USA; Department of Otorhinolaryngology, University of Miami, Miller School of Medicine, Miami, FL, USA. Electronic address: mtekin@med.miami.edu.
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.
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.
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Authors: Valeriia Yu Danilchenko; Marina V Zytsar; Ekaterina A Maslova; Marita S Bady-Khoo; Nikolay A Barashkov; Igor V Morozov; Alexander A Bondar; Olga L Posukh Journal: Diagnostics (Basel) Date: 2021-12-17