ADNP基因变异导致Helsmoortel-van der Aa综合征1例

1 case of Helsmoortel-van der Aa syndrome caused by ADNP gene mutation

目的通过分析1例ADNP基因变异导致Helsmoortel-vanderAa综合征患儿的病史特点,了解该病的临床特征、分子生物学特点及治疗方法,为临床诊治提供参考。方法报道1例Helsmoortel-van der Aa综合征患儿的病例资料,并进行相关文献复习。结果该患儿,男,6周岁4个月,表现智力发育障碍,孤独症谱系障碍,有情绪问题,特殊面容,身材矮小等临床表现,基因检测发现ADNP基因C.1222_1223del变异,为新发变异,其父母均未携带该突变。结论该例患儿有Helsmoortel-van der Aa综合征共同的表现,即智力发育障碍和孤独症谱系障碍,典型的外貌特点。基因有助于诊断,目前尚无特效治疗。

Objective To understand the clinical features and molecular biological characteristics and treatment methods of the disease and provide reference for clinical diagnosis and treatment,the history of a child with Helsmoortel-van der Aa syndrome caused by ADNP gene mutation were analyzed.Methods 1 case of Helsmoortel-van der Aa syndrome in children was reported and the related literatures was reviewed.Results The child,a boy,6 years and 4 months old,had the clinical manifestations such as mental retardation,autism spectrum disorder,emotional problems,special facial features,short stature.Genetic testing revealed a mutation in the ADNP gene C.1222_1223 del,which was a new mutation,neither of his parents had the mutation.Conclusion The child patient has the common manifestations of Helsmoortel-van der Aa syndrome,intellectual development disorder and autism spectrum disorders,typical physical features.Gene analysis can help to clarify diagnosis,and have no specific treatment.