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Updated: Jan 25, 2026

Author Spotlight: A Battery of Highly Reproducible Behavioral Tests to Validate an Angelman Syndrome Murine Model
Published on: October 20, 2023
[Recurrent Angelman syndrome caused by a rare partial deletion of UBE3A gene]
Qiaofang Hou1, Tiantian Shang2, Tao Li1
1Medical Genetics Institute of Henan Province, People's Hospital of Zhengzhou University, Henan Provincial People's Hospital, Zhengzhou, Henan 450003, China.
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.
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