Multicolor melting curve analysis discloses high carrier frequency of hearing loss-associated variants among neonates in Jiangsu province.

ABSTRACT:

Background

Genetic disorders ascribe to half of cases of congenital hearing loss. Hearing screening is significant in detecting hearing loss (HL) but weak at diagnosis, which can be complemented by genetic screening.

Methods

To find a feasible method to accomplish genetic screening and evaluate its advantage when combined with hearing screening, between 1 January 2022, and 10 December 2023, we performed an observational cohort study based on 2488 neonates from the Han population at three hospitals in Jiangsu province. Genetic screening for 20 variants in four common HL-associated genes by multicolor melting curve analysis (MMCA) and hearing screening were offered concurrently to all participants.

Results

In total, 170 (6.8%) of 2488 eligible neonates were detected at

SUBMITTER: Liu Y 

PROVIDER: S-EPMC10847707 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature