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.
Artículo
en Chino
| 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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Eliminación de Secuencia
/
Eliminación de Gen
/
Síndrome de Angelman
/
Ubiquitina-Proteína Ligasas
/
Hibridación Genómica Comparativa
/
Variaciones en el Número de Copia de ADN
Límite:
Femenino
/
Humanos
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2019
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS