Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort

Bademci, Guney; Foster, Joseph; Mahdieh, Nejat; Bonyadi, Mortaza; DUMAN, DUYGU; Cengiz, FİLİZ; Menendez, Ibis; Diaz-Horta, Oscar; Shirkavand, Atefeh; Zeinali, Sirous; Subasioglu, Asli; Tokgoz-Yilmaz, Suna; Huesca-Hernandez, Fabiola; de la Luz Arenas-Sordo, Maria; Dominguez-Aburto, Juan; Hernandez-Zamora, Edgar; Montenegro, Paola; Paredes, Rosario; Moreta, Germania; Vinueza, Rodrigo; Villegas, Franklin; Mendoza-Benitez, Santiago; Guo, Shengru; Bozan, Nazim; Tos, Tulay; Incesulu, Armagan; Sennaroglu, Gonca; Blanton, Susan; Ozturkmen-Akay, Hatice; Yildirim-Baylan, Muzeyyen; Tekin, Mustafa

doi:10.1038/gim.2015.89

Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort

Atıf İçin Kopyala

Bademci G., Foster J., Mahdieh N., Bonyadi M., DUMAN D., Cengiz F. B., ...Daha Fazla

GENETICS IN MEDICINE, cilt.18, sa.4, ss.364-371, 2016 (SCI-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 18 Sayı: 4
Basım Tarihi: 2016
Doi Numarası: 10.1038/gim.2015.89
Dergi Adı: GENETICS IN MEDICINE
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.364-371
Anahtar Kelimeler: autosomal recessive, deafness, exome, next-generation sequencing, HEREDITARY HEARING-LOSS, COPY-NUMBER VARIATION, SYNDROME TYPE-I, USHER-SYNDROME, AUDITORY NEUROPATHY, MISSENSE MUTATIONS, PENDRED-SYNDROME, COMMON-CAUSE, PDS GENE, PROTEIN
Gazi Üniversitesi Adresli: Hayır

Özet

Purpose: Autosomal recessive nonsyndromic deafness (ARNSD) is characterized by a high degree of genetic heterogeneity, with reported mutations in 58 different genes. This study was designed to detect deafness-causing variants in a multiethnic cohort with ARNSD by using whole-exome sequencing (WES).