Combined hearing and deafness gene mutation screening of 11,046 Chinese newborns.
- Author:
Xuejing SUN
1
;
Zuoming XI
;
Jing ZHANG
;
Baoyan LIU
;
Xinli XING
;
Xin HUANG
;
Qing ZHAO
Author Information
- Publication Type:Journal Article
- MeSH: Asian Continental Ancestry Group; genetics; China; Connexin 26; Connexins; genetics; DNA Mutational Analysis; DNA, Mitochondrial; chemistry; genetics; Deafness; diagnosis; ethnology; genetics; Gene Frequency; Genetic Predisposition to Disease; ethnology; genetics; Genetic Testing; methods; Genotype; Hearing; genetics; Hearing Tests; Humans; Infant, Newborn; Membrane Transport Proteins; genetics; Mutation; Neonatal Screening; methods; Polymerase Chain Reaction; RNA, Ribosomal; genetics; Reproducibility of Results; Sensitivity and Specificity
- From: Chinese Journal of Medical Genetics 2015;32(6):766-770
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo evaluate the efficacy of combined newborn hearing screening and deafness-related mutation screening.
METHODSEleven thousand and forty-six newborn babies were screened with otoacoustic emission, automatic auditory brainstem response and genetic testing using a standard protocol. Common mutations of three deafness-related genes have included GJB2 (c.235delC, c.299-300delAT), mtDNA 12srRNA (c.1494C>T, c.1555A>G) and SLC26A4 (c.2168A>G, c.IVS7-2A>G).
RESULTSThe detection rate for hearing loss in the first-step screening was 0.81% (90/11,046). 513 individuals were found to carry one or two mutant alleles, which gave a carrier rate of 4.64% (513/11,046). Five hundred and eighty-four newborns were positive for hearing screening and genetic screening. Among these, 19 have failed both tests, 71 have failed hearing screening, and 494 have failed genetic screening. The combined hearing and genetic screening has given a positive rate of 5.29%.
CONCLUSIONNeither hearing screening nor genetic screening is sufficient to identify individuals susceptible to auditory disorders. Combined used of these methods can improve the rate of detection.
