Wiedemann-Steiner syndrome due to novel nonsense variant of KMT2A gene in a case].

Huiqin Xue, Yu Feng, Chuan Zhang, Lan Ma, Jianrui Wu, Qian Li, Ting Gao, Zongfu Cao

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 Feb 10

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To explore the genetic basis for a child with unexplained global developmental delay (GDD), seizure, and facial deformity. Whole exome sequencing (WES) was carried out for the patient. Candidate variants were verified by Sanger sequencing of the patient and his parents. WES revealed that the patient has carried a previously unreported de novo heterozygous nonsense c.4906C>T (p.Arg1636Ter) variant of the KMT2A gene, Based on the American College of Medical Genetics and Genomics standards and guidelines, the c.4906C>T variant of KMT2A gene was predicted to be pathogenic (PVS1+ PS2+ PM2+PP3). The heterozygous nonsense c.4906C>T (p.Arg1636Ter) variant of the KMT2A gene probably underlay the disease in the child. Above finding has enriched the spectrum of pathogenic variants of the KMT2A gene.

Citation

Huiqin Xue, Yu Feng, Chuan Zhang, Lan Ma, Jianrui Wu, Qian Li, Ting Gao, Zongfu Cao. Wiedemann-Steiner syndrome due to novel nonsense variant of KMT2A gene in a case]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 2021 Feb 10;38(2):138-140