Combined Hearing and Genetic Screening in 33,810 Newborns in Dongguan
WU Jingfan
LI Xiaoxia
TAN Shujuan
FU Youqing
YANG Xi
ZHU Pengyuan
MA Qiulin
ZHOU Guanji
LIU Yanhui
Abstract：Objective To determine the carrier rate and mutation types of deafness-related genes in local new-borns,and evaluate the significance of combined hearing and genetic screening.Methods A total of 33,810 local new-borns were screened with otoacoustic emissions, automated auditory brainstem responses and genetic testing for nine mutations of four genes,including GJB2(c.235delC,c.299_300delAT,c.176_191del16,c.35delG),SLC26A4(IVS7-2A>G,c.2168A>G),mtDNA12SrRNA(m.1555A>G,m.1494C>T)and GJB3(c.538C>T). Results Among the 33,810 new-borns,1,145 mutations were identified(carrier rate=3.39%),including 661 GJB2 mutations(1.96%),364 SLC26A4 mutations(1.08%),74 mtDNA 12SrRNA mutations(0.22%)and 46 GJB3 mutations(0.14%).A total of 6,242 newborns received combined hearing and genetic screening,among them 103(1.65%)failed hearing screening.Conclusion The most common mutations were c.235delC and IVS7-2A>G in Dongguan.Combined hearing and genetic screening can help improve understanding of the carrier rate,mutation types and phenotypes of deafness genes as well as its impact on newborn hearing in the Dongguan population,which are critical in early identification of deafness and prevention of oto-toxicity and acquired deafness.Early identification,diagnosis and intervention are important to reduce deafness burden.
Keywords：NewbornHearing ScreeningDeafness-related GeneMutation Carrier RateGene Array
Publication Date：2018-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 176-180 )