Genetic analysis of 32 newborns with congenital hypotonia
Objective To explore the characteristics,clinical features and prognosis of pathogenic gene mutation of newborns with con-genital hypotonia,and provide a reference for clinicians to early identify diseases and choose reasonable treatment schemes.Methods The clinical characteristics and gene test results of newborns with hypotonia as the main clinical manifestation in the NICU of Anhui Children's Hospital from June 2019 to June 2022 were retrospectively analyzed.Results A total of 32 children with hypotonia diagnosed by gene tests were included.Among the 32 cases,20 cases(62.5％)had central hypotonia and 12 cases(37.5％)had peripheral hypotonia.A total of 21 diseases and 26 genotypes were detected,including 14 new mutations(RIT1,KRAS,BRAF,PHOX2B,HNRNPK,RAIl,KMT2D,OTC,AHDC1,DMD,COL12A1,MT-ATP6,FLNC,RYR1).All patients were followed up,and 20 patients died.Conclusion The etiology of congenital hypotonia is complex.Gene sequencing can improve the early diagnosis rate,broaden the phenotype-genotype spectrum of congenital hypotonia,so it can be used to replace some invasive tests,and guide clinical management and genetic counselling for families.
国家科技期刊平台
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