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  • Title: [Diagnosis of Bainbridge-Ropers syndrome due to de novo ASXL3 variant by high throughput sequencing].
    Author: Lyu Y, Zhao D, Zhang K, Gao M, Ma J, Wang D, Gai Z, Liu Y.
    Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Apr 10; 37(4):452-454. PubMed ID: 32219835.
    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.
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