Whole-exome sequencing revealed two novel mutations in Usher syndrome

Koparir, Asuman; Karatas, Omer; Atayoglu, Ali; Yuksel, Bayram; Sagiroglu, Mahmut; SEVEN, MEHMET; Ulucan, Hakan; Yuksel, Adnan; ÖZEN, MUSTAFA

doi:10.1016/j.gene.2015.03.060

Whole-exome sequencing revealed two novel mutations in Usher syndrome

Koparir A., Karatas O. F., Atayoglu A. T., Yuksel B., Sagiroglu M. S., SEVEN M., ...Daha Fazla

GENE, cilt.563, sa.2, ss.215-218, 2015 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 563 Sayı: 2
Basım Tarihi: 2015
Doi Numarası: 10.1016/j.gene.2015.03.060
Dergi Adı: GENE
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.215-218
Anahtar Kelimeler: Whole exome sequencing, Usher syndrome, USH2A, RETINITIS-PIGMENTOSA, SPANISH PATIENTS, USH2A MUTATIONS, GENE, IDENTIFICATION, PROTEIN
Kocaeli Üniversitesi Adresli: Hayır

Özet

Usher syndrome is a clinically and genetically heterogeneous autosomal recessive inherited disorder accompanied by hearing loss and retinitis pigmentosa (RP). Since the associated genes are various and quite large, we utilized whole-exome sequencing (WES) as a diagnostic tool to identify the molecular basis of Usher syndrome. DNA from a 12-year-old male diagnosed with Usher syndrome was analyzed by WES. Mutations detected were confirmed by Sanger sequencing. The pathogenicity of these mutations was determined by in silico analysis.