HNRNPU gene heterozygous mutation leading to developmental and epileptic encephalopathy 54:One case report
Objective To explore the clinical characteristics and genetic characteristics of the children with develop-mental and epileptic encephalopathy 54 caused by HNRNPU gene mutation.Methods The clinical data of a child with HNRNPU gene mutation admitted to the Affiliated Hospital of Weifang Medical College in June 2023 were retrospectively analyzed,and the relevant literature was reviewed.Results The child in this case,male,1 year and 3 months,had seizure onset after fever at 7 months of age.The main clinical features were intellectual disabilities,seizures,global developmental delay,craniofacial malformation,hypotonia,and the seizure type was generalized tonic attack.Genetic testing suggested carrying a heterozygous variant at the c.1305_1308del site of the HNRNPU gene,which was suggested to be classified as pathogenic according to the ACMG guidelines.The child was diagnosed as having both developmental and epileptic encephalopathy 54.Conclusion We reported a case of DEE54 caused by c.1305_1 308del locus variation in HNRNPU gene.Children with epilepsy with global developmental delay and intellectual disability should be diagnosed with genetic testing as soon as possible.
HNRNPU genedevelopmental and epileptic encephalopathy 54global developmental delaycraniofa-cial malformationintellectual disability
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