Mutation spectrum analysis of 23-site chip neonatal deafness genetic screening
Objective:To analyze the mutation spectrum of 23-site chip newborn deafness genetic screening in Beijing,and to provide basis for genetic counseling and clinical diagnosis and treatment.Methods:The study in-cluded 21 006 babies born in Beijing from December 2022 to June 2023.All subjects underwent newborn deafness genetic screening in Beijing Tongren Hospital,covering 23 variants in 4 genes,the GJB2 gene(c.35delG,c.176_191de116,c.235delC,c.299_300delAT,c.109G＞A,c.257C＞G,c.512insAACG,c.427C＞T,c.35insG),SLC26A4 gene(c.919-2A＞G,c.2168A＞G,c.1174A＞T,c.1226G＞A,c.1229C＞T,c.1975G＞C,c.2027T＞A,c.589G＞A,c.1707+5G＞A,c.917insG,c.281C＞T),Mt 12SrRNA(m.1555A＞G,m.1494C＞T)and GJB3 gene(c.538C＞T).The mutation detection rate and allele frequency were analyzed.Results:The overall mutation detection rate was 11.516％(2 419/21 006),with the GJ B2 gene being the most frequently involved at 9.097％(1 911/21 006),followed by the SLC26A4 gene at 2.123％(446/21 006),the GJ B3 gene at 0.362％(76/21 006)and Mt12SrRNA at 0.176％(37/21 006).Among the GJB2 genes,c.109G＞A and c.235delC mu-tation detection rates were the highest,with 6.579％(1 382/21 006)and 1.795％(377/21 006),respectively.Of the SLC26A4 genes,c.919-2A＞G and c.2168A＞G had the highest mutation rates of 1.423％(299/21 006)and 0.233％(49/21 106),respectively.Regarding the allele frequency,GJB2 c.109G＞A was the most common vari-ant with an allele frequency of 3.359％(1 411/42 012),followed by the GJB2 c.235delC at 0.897％(377/42 012)and the SLC26A4 c.919-2A＞G at 0.719％(302/42 012).Conclusion:23-site chip newborn deafness genetic screening in Beijing showed that GJB2 c.109G＞A mutation detection rate and allele frequency were the highest.This study has enriched the epidemiological data of 23-site chip genetic screening mutation profiles for neonatal deafness,which can provide evidence for clinical practice.
newborndeafness genesmutation detection rateallele frequency
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