[Diagnosis of Bainbridge-Ropers syndrome due to de novo ASXL3 variant by high throughput sequencing].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics(2020)
摘要
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.
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