儿童VAMP2基因突变致NEDHAHM病1例

A novel mutation in VAMP2 gene causing NEDHAHM disease in children:a case report and review of the literatures

报告中国汉族人群首例VAMP2基因突变致伴有肌张力低下的神经发育障碍和自闭症特征伴或不伴运动过度病(neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements,NEDHAHM),以期为临床诊治提供借鉴。患儿为14岁女童,以精神行为异常起病,表现为少言少语,基因检测提示VAMP2基因的3号外显子c.166C>T(p.Arg56Ter)杂合突变。对国外同类报告中12例患者资料回顾后发现,该病多在婴幼儿时期发病,男性多于女性,临床预后不佳,4-氨基吡啶可能为此病潜在性治疗药物,可改善患者症状。

This article reports the first case of a novel mutation in VAMP2 gene in Han Chinese population to cause neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements(NEDHAHM),to provide reference for clinical diagnosis and treatment.The child was a 14-year-old girl with psych behavioral abnormalities and showed little speech,and genetic testing showed that the patient had a heterozygous mutation in exon 3 c.166C>T(p.Arg56Ter)of the VAMP2 gene.Retrospective analysis of 12 reported cases revealed that the disease occurred more frequently in infancy and early childhood and in more men than women.The clinical prognosis of NEDHAHM disease was poor.4-aminopyridine,a potential treatment,may attenuate the symptoms of diseases.