摘要
目的 为1对临床诊断为“智力低下、癫痫”的同胞兄弟提供遗传学诊断,探讨其发病机制.方法 用微阵列比较基因组杂交(array comparative genomic hybridization,aCGH)技术对2例患儿及其父母、外祖父母进行检测;采用甲基化特异性的多重连接探针扩增(methylation-specific multiplex ligation-dependent probe amplification,MS-MLPA)对其家系进行分析,进一步明确患者的缺失区域.结果 aCGH检测发现患儿15q11.2区存在138 kb的缺失,涉及部分UBE3A基因.MS-MLPA检测证实患儿UBE3A基因第8~13外显子存在杂合性缺失.患儿母亲及外祖父携带相同的缺失,患儿父亲、外祖母及其他家族成员则未发现缺失.数据库检索提示该缺失为UBE3A罕见的突变形式,部分检测方法对其存在漏检的可能性.结论 患儿所患的Angleman综合征的发病机制为母源性UBE3A基因的部分缺失,非常罕见.
Objective To provide genetic testing for two brothers diagnosed as mental retardation and epilepsy.Methods Array comparative genomic hybridization(aCGH)was used to detect copy number variations in the two patients,their parents and maternal grandparents.Methylation-specific multiplex ligation-dependent probe amplification(MS-MLPA)was utilized to delineate the deleted region in the pedigree.Results A 138 kb deletion in 15q11.2 region was detected by aCGH in both brothers,which encompassed part of the UBE3A gene.MS-MLPA has narrowed down the region to exons 8 to 14 of the UBE3A gene.The same deletion was found in their mother and grandfather.Conclusion The pathogenesis of this rare form of recurrent Angleman syndrome is the partial deletion of maternal UBE3A gene.
作者
侯巧芳
尚甜甜
吴东
李涛
郭谦楠
楚艳
杨艳丽
廖世秀
Hou Qiaofang;Shang Tiantian;Li Tao;Wu Dong;Guo Qiannan;Chu Yah;Yang Yanli;Liao Shixiu(Medical Genetics Institute of Henan Province,People’s Hospital of Zhengzhou University,Henan Provincial People’s Hospital,Zhengzhou,Henan450003,China;Henan University,Kaifeng,Henan475000,China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2019年第5期491-494,共4页
Chinese Journal of Medical Genetics
基金
河南省医学科技攻关计划项目(201701016).
作者简介
通信作者:廖世秀,Email:ychslshx@126.com
