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

Cengiz, Filiz; Yilmazer, Rasim; Olgun, Levent; SENNAROĞLU, LEVENT; KİRAZLI, TAYFUN; Alper, Hudaver; Olgun, YÜKSEL; İNCESULU, ŞAZİYE; ATİK, TAHİR; Huesca-Hernandez, Fabiola; Dominguez-Aburto, Juan; Gonzalez-Rosado, Garly; Hernandez-Zamora, Edgar; de la Luz Arenas-Sordo, Maria; Menendez, Ibis; Orhan, Kadir; Avci, Hakan; Mandieh, Nejat; Bonyadi, Mortaza; Foster, Joseph; Duman, Duygu; Ozkinay, Ferda; Blanton, Susan; Bademci, Guney; Tekin, Mustafa

doi:10.1016/j.ijporl.2017.08.006

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

Cengiz F. B., Yilmazer R., Olgun L., SENNAROĞLU L., KİRAZLI T., Alper H., ...More

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, vol.101, pp.167-171, 2017 (SCI-Expanded, Scopus)

Publication Type: Article / Article
Volume: 101
Publication Date: 2017
Doi Number: 10.1016/j.ijporl.2017.08.006
Journal Name: INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.167-171
Keywords: Hearing loss, SLC26A4, Whole exome sequencing
Open Archive Collection: AVESIS Open Access Collection
Dokuz Eylül University Affiliated: Yes

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.