Diagnosis of Bainbridge-Ropers syndrome due to de novo ASXL3 variant by high throughput sequencing.
10.3760/cma.j.issn.1003-9406.2020.04.022
- Author:
Yuqiang LYU
1
;
Dongmei ZHAO
;
Kaihui ZHANG
;
Min GAO
;
Jian MA
;
Dong WANG
;
Zhongtao GAI
;
Yi LIU
Author Information
1. Jinan Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China. liuyi-ly@126.com.
- Publication Type:Case Reports
- MeSH:
Child;
Codon, Nonsense;
Developmental Disabilities;
genetics;
High-Throughput Nucleotide Sequencing;
Humans;
Intellectual Disability;
genetics;
Phenotype;
Syndrome;
Transcription Factors;
genetics
- From:
Chinese Journal of Medical Genetics
2020;37(4):452-454
- CountryChina
- Language:Chinese
-
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.
