Clinical and genetic analysis of neurodevelopmental disorders characterized by thickened corpus callosum caused by MAST1 gene mutation
10.3760/cma.j.cn113694-20231007-00212
- VernacularTitle:MAST1基因变异所致以胼胝体增厚为特征的神经发育障碍临床及遗传学分析
- Author:
Yanhong WANG
1
;
Lei LIU
;
Xiaoge FAN
;
Xuan ZHENG
;
Zhi LEI
;
Linfei LI
;
Lixin SONG
;
Yongtao DUAN
;
Shiyue MEI
Author Information
1. 郑州大学附属儿童医院（河南省儿童医院 郑州儿童医院）儿科医学研究所 河南省儿童遗传代谢性疾病重点实验室，郑州 450018
- Keywords:
Neurodevelopmental disorders;
Corpus callosum;
MAST1 gene
- From:
Chinese Journal of Neurology
2024;57(5):460-466
- CountryChina
- Language:Chinese
-
Abstract:
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.
