A case of Bainbridge-Ropers syndrome with autism in conjunct with ASXL3 gene variant and its clinical analysis / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 671-673, 2021.
Artículo
en Chino
| WPRIM
| ID: wpr-888372
ABSTRACT
OBJECTIVE@#To retrospectively analyze the clinical phenotype and genetic characteristics of a child with severe mental retardation, language and motor development delays and autism.@*METHODS@#High-throughput sequencing was carried out for the patient. Candidate variant was verified by Sanger sequencing and bioinformatics analysis.@*RESULTS@#The child was found to harbor a heterozygous variant of exon 11c.1421_1422insTGAATTTTCTGAGGAGGCTGAAAGT(p.Leu483*) of the ASXL3 gene. The same variant was found in neither of her parents, suggesting that it has a de novo origin.@*CONCLUSION@#The exon 11c.1421_1422ins TGAATTTTCTGAGGAGGCTGAAAGT(p.Leu483*) variant of the ASXL3 gene probably underlay the pathogenesis of Bainbridge-Ropers syndrome in this patient. Above finding has enriched the spectrum of ASXL3 gene variants.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Trastorno Autístico
/
Síndrome
/
Factores de Transcripción
/
Discapacidades del Desarrollo
/
Estudios Retrospectivos
/
Mutación
Tipo de estudio:
Estudio observacional
Límite:
Niño
/
Femenino
/
Humanos
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2021
Tipo del documento:
Artículo
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