Literature DB >> 32219835

[Diagnosis of Bainbridge-Ropers syndrome due to de novo ASXL3 variant by high throughput sequencing].

Yuqiang Lyu1, Dongmei Zhao, Kaihui Zhang, Min Gao, Jian Ma, Dong Wang, Zhongtao Gai, Yi Liu.   

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.

Entities:  

Year:  2020        PMID： 32219835     DOI： 10.3760/cma.j.issn.1003-9406.2020.04.022

Source DB:  PubMed          Journal:  Zhonghua Yi Xue Yi Chuan Xue Za Zhi        ISSN： 1003-9406


  1 in total

Review 1.  De novo nonsense variant in ASXL3 in a Chinese girl causing Bainbridge-Ropers syndrome: A case report and review of literature.

Authors:  Qin Wang; Jianming Zhang; Nan Jiang; Jiansheng Xie; Jingxin Yang; Xiaoshan Zhao
Journal:  Mol Genet Genomic Med       Date:  2022-03-11       Impact factor: 2.473
  1 in total

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