Whole exome analysis of patients in Japan with hearing loss reveals high heterogeneity among responsible and novel candidate genes

• Published in: Orphanet journal of rare diseases Vol. 17; no. 1; p. 114
• Main Authors: Mutai, Hideki, Momozawa, Yukihide, Kamatani, Yoichiro, Nakano, Atsuko, Sakamoto, Hirokazu, Takiguchi, Tetsuya, Nara, Kiyomitsu, Kubo, Michiaki, Matsunaga, Tatsuo
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 05.03.2022; BioMed Central; BMC
• Subjects: Deafness - genetics; Deafness - pathology; Deafness genes; Development and progression; Exome - genetics; Genetic aspects; Genetic susceptibility; GTP-Binding Proteins - genetics; Health aspects; Hearing loss; Hearing Loss - genetics; Humans; Intercellular Signaling Peptides and Proteins - genetics; Japan; Mutation; Nuclear Proteins - genetics; Pedigree; Risk factors; Solute Carrier Family 12, Member 2 - genetics; Whole Exome Sequencing; Whole exome sequencing analysis; Japan; Whole exome sequencing analysis; Deafness genes; Hearing loss

Heterogeneous genetic loci contribute to hereditary hearing loss; more than 100 deafness genes have been identified, and the number is increasing. To detect pathogenic variants in multiple deafness genes, in addition to novel candidate genes associated with hearing loss, whole exome sequencing (WES)...