[Mutation spectrum analysis of 23-site chip neonatal deafness genetic screening].

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. 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 gene（c.35delG, c.176_191del16, c.235delC, c.299_300delAT, c.109G>A, c.257C>G, c.512insAACG, c.427C>T, c.35insG）, 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）, （m.1555A>G, m.1494C>T） and gene（c.538C>T）. The mutation detection rate and allele frequency were analyzed. The overall mutation detection rate was 11.516%（2 419/21 006）, with the gene being the most frequently involved at 9.097%（1 911/21 006）, followed by the gene at 2.123%（446/21 006）, the gene at 0.362%（76/21 006） and at 0.176%（37/21 006）. Among the 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 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, c.109G>A was the most common variant with an allele frequency of 3.359%（1 411/42 012）, followed by the c.235delC at 0.897%（377/42 012） and the c.919-2A>G at 0.719%（302/42 012）. 23-site chip newborn deafness genetic screening in Beijing showed that 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.