Recurrent Angelman syndrome caused by a rare partial deletion of UBE3A gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 491-494, 2019.
Article
in Chinese
| WPRIM
| ID: wpr-771982
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Sequence Deletion
/
Gene Deletion
/
Angelman Syndrome
/
Ubiquitin-Protein Ligases
/
Comparative Genomic Hybridization
/
DNA Copy Number Variations
Limits:
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2019
Type:
Article
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