Analysis of result of gene screening of neonatal deafness in Huizhou and surrounding urban areas.
10.3760/cma.j.cn511374-20201104-00775
- Author:
Yun ZENG
1
;
Xuanting LU
;
Lifang WU
;
Yan ZHENG
Author Information
1. Prenatal Diagnosis Center, Huizhou Second Maternal and Child Health Care Hospital, Guangdong 516003, China. zzy870801@126.com.
- Publication Type:Journal Article
- MeSH:
Connexin 26;
Connexins/genetics*;
DNA Mutational Analysis;
Deafness/genetics*;
Genetic Testing;
Hearing Loss/genetics*;
Humans;
Infant, Newborn;
Mutation;
Neonatal Screening
- From:
Chinese Journal of Medical Genetics
2021;38(12):1176-1179
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To detect common pathogenic variants associated with congenital deafness among neonates from Huizhou and surrounding areas and discuss its implications.
METHODS:Thirteen hot-spot mutations in four most common pathogenic genes were screened among 20 934 neonates from March 2017 to December 2019.
RESULTS:In total 760 neonates were found to carry common pathogenic variants (3.63%). Sixty two neonates have carried homozygous/compound heterozygous variants or homoplasmy/heteroplasmy mutations of mtDNA (0.29%). Further analysis of five abnormal cases revealed that 3 of them have carried compound heterozygous mutations of GJB2 gene, and 2 were due to compound heterozygous variants of the CDH23 gene.
CONCLUSION:Genetic testing has a great clinical significance for the prevention and reduction of congenital hearing loss, but the scope needs to be updated and redefined by removing mutation sites with a very low rate, adding new significant sites, and improvement of the technical strategies.
