Case report of neurodevelopmental disorder associated with de novo MORC2 mutation
10.3760/cma.j.cn101070-20210227-00241
- VernacularTitle:MORC2基因新发突变相关神经发育障碍1例
- Author:
Zhongling KE
1
;
Yanhui CHEN
;
Chuanjun WU
Author Information
1. 福建医科大学附属协和医院儿科，福州 350001
- Keywords:
MORC2 gene;
Leigh syndrome;
Neurodevelopmental disorder
- From:
Chinese Journal of Applied Clinical Pediatrics
2022;37(12):946-950
- CountryChina
- Language:Chinese
-
Abstract:
The clinical data of a child with MORC2 gene mutation related neurodevelopmental disorder treated in Fujian Medical University Union Hospital in July 2020 were analyzed retrospectively.The male (7-year-old)patient was global retardation from infant, with special face, short stature, small head circumference, decreased muscle strength and positive pyramidal tract sign of lower limbs.Brain magnetic resonance imaging was similar to the changes of Leigh syndrome.Genetic testing found de novo mutation in MORC2 gene chr22: 31345763, c.292G>A(p.Gly98Arg). And literature review found that there was only one related report. MORC2 gene mutation related neurodevelopmental disorder is a newly discovered syndrome, and c. 79G>A(p.Glu27Lys) is the most common mutation.This case enriched the clinical phenotype and genotype of neurodevelopmental disorder related to MORC2 gene.
