[由罕见的UBE3A基因部分缺失引起的复发性天使综合征]
[Recurrent Angelman syndrome caused by a rare partial deletion of UBE3A gene].
作者信息
Hou Qiaofang, Shang Tiantian, Li Tao, Wu Dong, Guo Qiannan, Chu Yan, Yang Yanli, Liao Shixiu
机构信息
Medical Genetics Institute of Henan Province, People's Hospital of Zhengzhou University, Henan Provincial People's Hospital, Zhengzhou, Henan 450003, China. Email:
Henan University, Kaifeng, Henan 475000, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 May 10;36(5):491-494. doi: 10.3760/cma.j.issn.1003-9406.2019.05.019.
OBJECTIVE
To provide genetic testing for two brothers with 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 patients, 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 also found in their mother and grandfather.
CONCLUSION
The pathogenesis of this rare form of recurrent Angelman syndrome may be attributed to the partial deletion of maternal UBE3A gene.
目的
为两名患有智力障碍和癫痫的兄弟提供基因检测。
方法
采用阵列比较基因组杂交（aCGH）检测两名患者及其父母和外祖父母的拷贝数变异。利用甲基化特异性多重连接依赖探针扩增（MS-MLPA）来描绘家系中的缺失区域。
结果
aCGH在两名患者中均检测到15q11.2区域138 kb的缺失，该缺失包含部分UBE3A基因。MS-MLPA已将该区域缩小至UBE3A基因的第8至14外显子。在他们的母亲和外祖父中也发现了相同的缺失。
结论
这种罕见的复发性天使综合征的发病机制可能归因于母源UBE3A基因的部分缺失。
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