Genetic screening of 15 hearing loss variants in 77,647 neonates with clinical follow-up.

ABSTRACT:

Background

To analyze the genotype distribution and frequency of hearing loss genes in newborn population and evaluate the clinical value of genetic screening policy in China.

Methods

Genetic screening for hearing loss was offered to 84,029 neonates between March 2019 and December 2021, of whom 77,647 newborns accepted the screening program with one-year follow-up. The genotyping of 15 hot spot variants in GJB2, GJB3, SLC26A4, and MT-RNR1 was performed on microarray platform.

Results

A total of 3.05% (2369/77,647) newborns carried at least one genetic hearing loss-associated variant, indicated for early preventive management. The carrier frequency of GJB2 gene was the highest, at 1.48% (1147/77,647), followed by SLC26A4 gene at 1.07% (831/77,647), and GJB3 gene at 0.2

SUBMITTER: Kun L 

PROVIDER: S-EPMC10767602 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature