Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.

ABSTRACT:

Background

At present, the hereditary hearing loss homepage, ( https://hereditaryhearingloss.org/ ), includes 258 deafness genes and more than 500 genes that have been reported to cause deafness. With few exceptions, the region-specific distributions are unclear for many of the identified variants and genes.

Methods

Here, we used a custom capture panel to perform targeted sequencing of 518 genes in a cohort of 879 deaf Chinese probands who lived in Yunnan. Mutation sites of the parents were performed by high-throughput sequencing and validated by Sanger sequencing.

Results

The ratio of male to female patients was close to 1:1 (441:438) and the age of onset was mainly under six. Most patients (93.5%) were diagnosed with moderate to severe deafness. Four hundred and twe

SUBMITTER: Ma J 

PROVIDER: S-EPMC9811745 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature