Analysis of result of gene screening of neonatal deafness in Huizhou and surrounding urban areas / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1176-1179, 2021.
Article
in Chinese
| WPRIM
| ID: wpr-922018
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
DNA Mutational Analysis
/
Genetic Testing
/
Neonatal Screening
/
Connexins
/
Deafness
/
Connexin 26
/
Hearing Loss
/
Mutation
Type of study:
Diagnostic study
/
Screening study
Limits:
Humans
/
Infant, Newborn
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2021
Type:
Article
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