Clinical and genetic analysis of neurodevelopmental disorders characterized by thickened corpus callosum caused by MAST1 gene mutation
Objective To investigate the clinical and genetic features of the patient with neurodevelopmental disorders characterized by thickened corpus callosum caused by MAST1 gene mutation.Methods Clinical data and auxiliary examination of a child with neurodevelopmental disorders caused by MAST1 gene mutation who was admitted to Henan Children's Hospital in September 2022 were collected,and whole exome sequencing technology was applied to analyze the genetics of the child.Results The patient was a 2 years and 8 months old male,with a clinical phenotype including intellectual,motor,and speech development disorders.Brain magnetic resonance imaging(MRI)showed thickened corpus callosum,nodular heterotopia of the left ventricle body.Whole exome sequencing showed the MAST1 gene with c.578T＞G(p.Met193Arg)heterozygous missense variant,which was a unreported de novo pathogenic variant and both of his parents were wild-type.Conclusions Diseases caused by MAST1 gene mutations are relatively rare,the main clinical features are neurodevelopmental disorders and brain structural abnormalities,and MRI shows an enlarged corpus callosum.The heterozygous missense variant c.578T＞G(p.Met193Arg)of the MAST1 gene is the genetic cause of this case.
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