Spectrum of genetic variants in moderate to severe sporadic hearing loss in Pakistan.

ABSTRACT: Hearing loss affects 380 million people worldwide due to environmental or genetic causes. Determining the cause of deafness in individuals without previous family history of hearing loss is challenging and has been relatively unexplored in Pakistan. We investigated the spectrum of genetic variants in hearing loss in a cohort of singleton affected individuals born to consanguineous parents. Twenty-one individuals with moderate to severe hearing loss were recruited. We performed whole-exome sequencing on DNA samples from the participants, which identified seventeen variants in ten known deafness genes and one novel candidate gene. All identified variants were homozygous except for two. Eleven of the variants were novel, including one multi-exonic homozygous deletion in OTOA. A missense varia

SUBMITTER: Ramzan M 

PROVIDER: S-EPMC7368073 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature