Diagnosis of Bainbridge-Ropers syndrome due to de novo ASXL3 variant by high throughput sequencing / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 452-454, 2020.
Article
в Zh
| WPRIM
| ID: wpr-826557
Ответственная библиотека:
WPRO
ABSTRACT
OBJECTIVE@#To explore the clinical and genetic features of a patient with mental retardation.@*METHODS@#G-Banding chromosomal karyotyping and high-throughput sequencing was carried out for the child. Suspected variant was validated in his family by Sanger sequencing and bioinformatic analysis.@*RESULTS@#The patient was found to carry a de novo heterozygous c.4090G>T (p.Gly1364X) variant of the ASXL3 gene, which was known to predispose to Bainbridge-Ropers syndrome.@*CONCLUSION@#The nonsense c.4090G>T (p.Gly1364X) variant probably accounts for the disease in this patient.
Полный текст:
1
База данных:
WPRIM
Основная тема:
Phenotype
/
Syndrome
/
Transcription Factors
/
Developmental Disabilities
/
Codon, Nonsense
/
High-Throughput Nucleotide Sequencing
/
Genetics
/
Intellectual Disability
Пределы темы:
Child
/
Humans
Язык:
Zh
Журнал:
Chinese Journal of Medical Genetics
Год:
2020
Тип:
Article