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

Cengiz, FİLİZ; Yilmazer, Rasim; Olgun, Levent; SENNAROĞLU, LEVENT; Kirazli, Tayfun; Alper, Hudaver; Olgun, Yuksel; İNCESULU, ŞAZİYE; Atik, Tahir; 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

Atıf İçin Kopyala

Cengiz F. B., Yilmazer R., Olgun L., SENNAROĞLU L., Kirazli T., Alper H., ...Daha Fazla

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, cilt.101, ss.167-171, 2017 (SCI-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 101
Basım Tarihi: 2017
Doi Numarası: 10.1016/j.ijporl.2017.08.006
Dergi Adı: INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.167-171
Anahtar Kelimeler: Hearing loss, SLC26A4, Whole exome sequencing, ENLARGED VESTIBULAR AQUEDUCT, PENDRED-SYNDROME, MOLECULAR ANALYSIS, PDS GENE, SLC26A4 GENE, MUTATIONS, FAMILIES, DEAFNESS, SPECTRUM, DFNB4
Gazi Üniversitesi Adresli: Hayır

Özet

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.