Recurrent Angelman syndrome caused by a rare partial deletion of UBE3A gene.
10.3760/cma.j.issn.1003-9406.2019.05.019
- Author:
Qiaofang HOU
1
;
Tiantian SHANG
2
;
Tao LI
1
;
Dong WU
1
;
Qiannan GUO
1
;
Yan CHU
1
;
Yanli YANG
1
;
Shixiu LIAO
1
Author Information
1. Medical Genetics Institute of Henan Province, People's Hospital of Zhengzhou University, Henan Provincial People's Hospital, Zhengzhou, Henan 450003, China. Email: ychslshx@126.com.
2. Henan University, Kaifeng, Henan 475000, China.
- Publication Type:Case Reports
- MeSH:
Angelman Syndrome;
Comparative Genomic Hybridization;
DNA Copy Number Variations;
Female;
Gene Deletion;
Humans;
Male;
Sequence Deletion;
Ubiquitin-Protein Ligases
- From:
Chinese Journal of Medical Genetics
2019;36(5):491-494
- CountryChina
- Language:Chinese
-
Abstract:
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.
