PIGG突变致常染色体隐性精神发育迟缓1例并文献复习  

Autosomal recessive mental retardation caused PIGG mutation:A case report and literature review

作　　者：杨理明[1] 杨赛[1] 廖红梅[1] 康庆云[1] 宁泽淑[1] 张钦[1] 旷小军[1] 江志[1] YANG Liming;YANG Sai;LIAO Hongmei;KANG Qingyun;NING Zeshu;Zhang Qin;KUANG Xiaojun;JIANG Zhi(The Children's Hospital of Hunan,Changsha,Hunan 410007,China)

机构地区：[1]湖南省儿童医院,湖南长沙410007

出　　处：《中国优生与遗传杂志》2022年第1期50-55,共6页Chinese Journal of Birth Health & Heredity

基　　金：湖南省科技厅创新项目科研基金(2020SK50506)。

摘　　要：目的总结PIGG突变致常染色体隐性遗传精神发育迟缓的基因型-表型的关联并文献复习,为常染色体隐性精神发育迟缓53型(MRT53)的理解和早期诊疗提供参考。方法收集1例13月龄男性患儿,因"间断抽搐9个月,发育迟缓7个月"就诊。就诊时握持反射较弱,不能竖头、翻身、站立,认人差。结果Gesell发育量表评估为中-重度全面发育迟缓。脑电图提示癫痫、头颅MRI显示小脑异常。WES检测显示PIGG基因复合杂合突变(NM_001127178:c.128A>T/p.E43V和c.2053G>A/p.G685S),患儿最终被确诊为MRT53。目前全世界仅报道9例,本案例为第10例,是国内首例。10例MRT53的临床表型包括智力低下(10/10)、肌张力低下(10/10)、癫痫发作(9/10)、共济失调(5/10)、面部畸形(4/10)、MRI中枢神经系统异常(8/10)和先天性心脏病(3/10)。结论本研究为国内首例PIGG突变导致的MRT53,主要表型为智力障碍、肌张力低下和癫痫发作,与以往报道的临床特征一致,也存在异质性表型。PIGG突变类型多样,无论是错义突变还是导致蛋白产物长度改变的突变,均可导致PIGG突变相关的MRT,但其基因型-表型关联还有待进一步研究来阐明。目前MRT53的诊断仍有赖于基因检测。Objective To provide reference for the understanding and early diagnosis and treatment of autosomal recessive mental retardation-53(MRT53),the genotypic/phenotypic association of autosomal recessive mental retardation caused by PIGG mutation was summarized and the literature was reviewed.Methods The patient was 13-month-old boy who committed in our hospital for‘intermittent seizures and developmental delays for 9 and 7 months,respectively’.Physical examinations showed the patient had weakened holding reflex and he could not lift his head,turn over,or stand up,and he could barely recognize familiar people.Results He was found moderate-severe global developmental delay according to the Gesell Development Schedules.EEG indicated epileptic discharges and cranial MRI showed abnormal cerebellum.Using whole exome sequencing(WES),he was found compound heterozygous mutations(NM_001127178:c.128 A>T/p.E43 V and c.2053 G>A/p.G685 S)with PIGG gene,and the patient was finally diagnosed as MRT53.Currently,only 9 cases of MRT53 have been reported worldwide,and this case was the 10 th and the first in China.Summarizing these cases,the main phenotypes of MRT53 were mental retardation(10/10),hypotonia(10/10),seizures(9/10),ataxia(5/10),and facial deformities(4/10),brain MRI findings(8/10)and congenital heart disease(3/10).Conclusion This is the first case of MRT53 caused by PIGG mutations in China,and the main phenotypes are consistent with previously reported cases,mental retardation,hypotonia,and seizures,however,the heterogeneous phenotypes should be considered.Although,the types of PIGG mutation may vary,including missense and protein length-changing mutations,all may lead to MRT,indicating that the genotype-phenotype association needs further study.The diagnosis of MRT53 currently depends on genetic tests.

关 键 词：PIGG 癫痫 常染色隐性遗传发育迟缓 

分 类 号：R749.94[医药卫生—神经病学与精神病学]