MORC2基因新发突变相关神经发育障碍1例

Case report of neurodevelopmental disorder associated with de novo MORC2 mutation

回顾性分析2020年7月就诊于福建医科大学附属协和医院的 MORC2基因突变相关神经发育障碍患儿1例的临床资料。患儿,男,7岁,婴儿期起病,全面发育落后,特殊面容,身材矮小,头围小;双下肢肌力减退,锥体束征阳性。头颅磁共振成像出现类似Leigh综合征的改变。基因检测发现 MORC2基因新发突变,chr22:31345763,c.292G>A(p.Gly98Arg)。文献复习发现既往仅1篇相关报道, MORC2基因突变相关神经发育障碍是一种新发现的综合征,以c.79G>A(p.Glu27Lys)突变最为多见。本病例丰富了 MORC2基因新发突变相关神经发育障碍的临床表型及基因型。

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.