Genomic and phenotypic landscapes of X-linked hereditary hearing loss in the Chinese population.

ABSTRACT:

Background

Hearing loss (HL) is the most common sensory birth deficit worldwide, with causative variants in more than 150 genes. However, the etiological contribution and clinical manifestations of X-linked inheritance in HL remain unclear within the Chinese HL population. In this study, we focused on X-linked hereditary HL and aimed to assess its contribution to hereditary HL and identify the genotype-phenotype relationship.

Methods

We performed a molecular epidemiological investigation of X-linked hereditary HL based on next-generation sequencing and third-generation sequencing in 3646 unrelated patients with HL. We also discussed the clinical features associated with X-linked non-syndromic HL-related genes based on a review of the literature.

Results

We obtained a

SUBMITTER: Feng H 

PROVIDER: S-EPMC11396341 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature