Analysis of deafness gene mutation types of newborns failing hearing screening based on Goldengate high-throughput deafness gene chip
Objective To analyze the types of deafness gene mutations in neonates who failed hearing screening based on Goldengate high-throughput gene chip.Methods From February 2020 to February 2022,a total of 284 newborns who failed hearing screening were enrolled,which included 154 males and 130 females,aged 3-10 days with mean age of 6.46 days(standard deviation 1.57 days);body mass was 2.5-4.1 kg with mean body mass of 3.26 kg(standard deviation 0.34 kg).There were 10 cases of family history and 15 of medication history.The Goldengate high-throughput deafness gene chip was used to screen deafness genes.The mutation sites and types of deafness gene were analyzed to study relationship be-tween children with gene mutation and hearing loss degree.Results There were 32 cases(1 1.27％)of deafness gene mutations in 284 newborns who failed hearing screening,which included 18 cases(6.34％)of SLC26A4 mutation,9(3.17％)of GJB2 muta-tion,3(1.06％)of GJB3 mutation,1(0.35％)of TMC1 mutation and 1(0.35％)of MYO6 mutation.The two sites with the highest mutation frequency of SLC26 A 4 were IVS7-2A＞G(5 cases)and 697G＞C(4 cases),respectively.The two sites with the high-est mutation frequency of GJB2 were 299_300 delAT(4 cases)and 235 deIC(3 cases),respectively.There was only one mutation site of GJB3 and TMC1.The results of Goldengate high-throughput chip of 18 newborns with SLC26A4 mutation were basically consistent with those of Sanger sequencing.The hearing loss degree of SLC26A4 mutation newborns was mainly mild to moder-ate,while hearing loss degree of GJB2 mutation newborns was mainly moderate to severe.The distribution difference of hearing loss degree of SLC26A4 and GJB2 mutation newborns was statistically significant(x2=7.481,P=0.024).Conclusion It is demonstrated that Goldengate high-throughput deafness gene chip analysis can accurately detect the types of deafness gene mutations in newborns who failed hearing screening,and the susceptible genes of deafness are mainly SLC26A4 and GJB2.
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