Abstract
Nonsyndromic hearing loss has been shown to have high genetic heterogeneity. In this report, we aimed to disclose the genetic causes of the subjects from the ten Chinese deaf families who did not have pathogenic common genes/mutation. Next-generation sequencing (NGS) of 142 known deafness genes was performed in the probands of ten families followed by cosegregation analysis of all family members. We identified novel pathogenic variants in six families including p.D1806E/p.R1588W, p.R964W/p.R1588W, and p.G17C/p.G1449D in CDH23; p.T584M/p.D1939N in LOXHD1; p.P1225L in MYO7A; and p.K612X in EYA4. Sanger sequencing confirmed that these mutations segregated with the hearing loss of each family. In four families, no pathogenic variants were identified. Our study provided better understanding of the mutation spectrum of hearing loss in the Chinese population.
Highlights
Hearing loss (HL) is the most common sensory disorder in humans, affecting one in every 500 newborns
In China, mutations in many genes have been found associated with hereditary HL, and the mutation spectrums were broad and diverse [3].Genetic heterogeneity and the small size of families with hereditary HL have hindered the unravelling of the genetic causes
All affected individuals were evaluated through detailed audiological evaluations including otoscopy, pure-tone audiometry, auditory brainstem response (ABR), distortion product otoacoustic emissions (DPOAEs), and auditory steady-state response (ASSR) test in subjects with very young age
Summary
Hearing loss (HL) is the most common sensory disorder in humans, affecting one in every 500 newborns. In China, mutations in many genes have been found associated with hereditary HL, and the mutation spectrums were broad and diverse [3].Genetic heterogeneity and the small size of families with hereditary HL have hindered the unravelling of the genetic causes. The advent of targeted DNA capturing and nextgeneration sequencing (NGS) may make it possible to analyze most, if not all, deafness genes, as opposed to screening of each individual gene by conventional Sanger sequencing [2,3,4]. Using this strategy, we analyzed ten Chinese families with hereditary hearing loss and disclose their genetic causes
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