Clinical and genetic analysis of a patient with Angelman syndrome due to a frameshift variant of UBE3A gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1120-1123, 2020.
Artículo
en Chino
| WPRIM
| ID: wpr-827730
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a Chinese boy featuring developmental delay and epilepsy.@*METHODS@#Clinical data of the patient was collected. Genomic DNA of the patient and his parents was extracted and subjected to high-throughput sequencing. Pathogenicity of the variant was predicted and validated.@*RESULTS@#Sequencing results showed that the patient has carried a de novo c.1470delA (p.V491Ffs*6) variant of the UBE3A gene, which was predicted to be pathogenic.@*CONCLUSION@#The frameshift variant c.1470delA (p.V491Ffs*6) probably underlay the disorders in this child.
Texto completo:
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Índice:
WPRIM (Pacífico Occidental)
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2020
Tipo del documento:
Artículo
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