一例AHDC1基因变异所致的Xia-Gibbs综合征患儿的遗传学分析  

Analysis of a case with Xia-Gibbs syndrome due to variant of AHDC1 gene

作　　者：范丽娟 李杨 罗欢 沈亚君 袁梦 杨作臻 甘靖 Fan Lijuan;Li Yang;Luo Huan;Shen Yajun;Yuan Meng;Yang Zuozhen;Gan Jing(Department of Pediatrics,West China Second University Hospital,Sichuan University Key Laboratory of Obstetric&Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education,Sichuan University,Chengdu,Sichuan 610041,China;Key Laboratory of Development and Maternal and Child Diseases of Sichuan Province,Chengdu,Sichuan 610041,China;Saifu Decoding(Beijing)Gene Technology Co.,Ltd.,Chengdu,Sichuan 610041,China)

机构地区：[1]四川大学华西第二医院儿科,出生缺陷与相关妇儿疾病教育部重点实验室,成都610041 [2]发育与妇儿疾病四川省重点实验室,成都610041 [3]赛福解码(北京)基因科技有限公司,成都610041

出　　处：《中华医学遗传学杂志》2022年第4期397-400,共4页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金(82071686,81501301);四川省科技厅重点研发项目(2021YFS0093);四川大学华西第二医院科研基金(KL115,KL072)。

摘　　要：目的对1例Xia-Gibbs综合征的临床特征及基因变异特点进行分析。方法回顾性分析四川大学华西第二医院确诊的1例AHDC1基因变异致Xia-Gibbs综合征患儿的临床资料及全外显子测序结果,并总结已报道XGS病例的临床表型和基因变异特点。结果患儿的主要临床表现为发育落后、肌张力低下、视觉障碍、孤独症和上呼吸道梗阻;头颅MRI示脑白质髓鞘化延迟;脑电图无明显异常;全外显子测序显示AHDC1基因发生了c.730delA(p.Ile244Serfs*16)变异;根据美国医学遗传学与基因组学学会遗传变异分类标准与指南,c.730delA判定为致病性变异(PVS1+PS2+PM2)。本文病例及已报道的61例AHDC1变异患儿,以发育落后、特殊面容、肌张力低下为主要表现,头颅影像学胼胝体发育不良常见;已报道47种变异位点多为新发剪切变异。结论AHDC1基因c.730delA变异可能为该例患儿的致病原因,基因检测结果为患儿的临床诊断提供了依据。Objective To analyze the clinical and genetic characteristics of a child featuring Xia-Gibbs syndrome.Methods Whole exome sequencing was carried out for the child.Results The patient has presented with developmental delay,hypotonia,strabismus and snoring.Cranial MRI revealed hypomyelination,while the EEGs were normal.Genetic testing revealed a de novo variant of the AHDC1 gene,namely c.730delA(p.Ile244Serfs*16),which was classified as pathogenic(PVS1+PS2+PM2).Together with 60 cases from the literature,individuals harboring a AHDC1 variant commonly have delayed motor milestones,speech delay,facial dysmorphism and hypotonia.Dysgenesis of corpus callosum is also common.In total 47 AHDC1 variants have been reported,among which truncating variants were the most common type.Conclusion The c.730delA(p.Ile244Serfs*16)variant of the AHDC1 gene probably underlay the Xia-Gibbs syndrome in this patient.Above finding has provided a basis for the clinical diagnosis.

关 键 词：Xia-Gibbs综合征 全面性发育落后 AHDC1基因 外显子测序 

分 类 号：R725.9[医药卫生—儿科]