Objective To analyze the screening results of hypermethioninemia in newborns and MAT1A gene mutation.Methods A total of 168 694 newborns who underwent tandem mass spectrometry screening for genetic metabolic disease in Zaozhuang City from January 2015 to December 2022 were selected as the study objects.High-throughput sequencing technology combined with Sanger sequencing was used to detect the pathogenic genes associated with neonatal hypermethioninemia after screening,and gene analysis was performed on the core family members.Results A total of 3 newborns with hypermethioninemia were detected,with an incidence of 1/56 231.The plasma methionine concentration of 3 newborns with hypermethioninemia was higher during screening,treatment and follow-up,and all of them had MAT1A gene mutation,of whom 2 cases had c.791G>A heterozygous mutation,and 1 case had c.163G>A and c.451C>A complex heterozygous mutation.The mutations of c.163G>A and c.451C>A were not reported in the literature.Sanger sequencing showed that the mutations in hypermethioninemia newborns came from their parents.Conclusion The incidence of newborns with hypermethioninemia is about 1/56 231 in Zaozhuang.Three mutation sites of MAT1A gene are detected,including c.791G>A,c.163G>A and c.451C>A mutations.
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