Abstract

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 included 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_191del16, 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), Mt12SrRNA(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 GJB2 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 GJB3 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 mutation 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 variant 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.

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