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Article

[Analysis of MVK gene variant in a child with high IgD syndrome caused by mevalonate kinase deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Apr 2022

Wang Junchao, Wei Xingjia, Tao Zhenli

Abstract excerpt

OBJECTIVE: To analyze the clinical and genetic features of a patient with mevalonate kinase deficiency (MKD). METHODS: Whole exome sequencing was carried out for the proband. Candidate variant was verified by Sanger sequencing. RESULTS: The proband was found to harbor compound heterozygous variants of the MVK gene, including a c.248C>T (p.Phe83Cys) variant derived from his father and a c.971C>T (p.Ala324Val)...

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PMID: 35446978
DOI: 10.3760/cma.j.cn511374-20210110-00025

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