TY - JOUR
T1 - Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort
AU - Cengiz, Filiz Basak
AU - Yilmazer, Rasim
AU - Olgun, Levent
AU - Sennaroglu, Levent
AU - Kirazli, Tayfun
AU - Alper, Hudaver
AU - Olgun, Yuksel
AU - Incesulu, Armagan
AU - Atik, Tahir
AU - Huesca-Hernandez, Fabiola
AU - Domínguez-Aburto, Juan
AU - González-Rosado, Garly
AU - Hernandez-Zamora, Edgar
AU - Arenas-Sordo, Maria de la Luz
AU - Menendez, Ibis
AU - Orhan, Kadir Serkan
AU - Avci, Hakan
AU - Mahdieh, Nejat
AU - Bonyadi, Mortaza
AU - Foster, Joseph
AU - Duman, Duygu
AU - Ozkinay, Ferda
AU - Blanton, Susan H.
AU - Bademci, Guney
AU - Tekin, Mustafa
N1 - Publisher Copyright:
© 2017 Elsevier B.V.
PY - 2017/10
Y1 - 2017/10
N2 - 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.
AB - 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.
KW - Hearing loss
KW - SLC26A4
KW - Whole exome sequencing
UR - https://www.scopus.com/pages/publications/85030111743
U2 - 10.1016/j.ijporl.2017.08.006
DO - 10.1016/j.ijporl.2017.08.006
M3 - Article
C2 - 28964290
AN - SCOPUS:85030111743
SN - 0165-5876
VL - 101
SP - 167
EP - 171
JO - International Journal of Pediatric Otorhinolaryngology
JF - International Journal of Pediatric Otorhinolaryngology
ER -