Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2022
[Analysis of MVK gene variant in a child with high IgD syndrome caused by mevalonate kinase deficiency].
СтатьяНазвание и аннотация: Перевод в очереди
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Wang Junchao, Wei Xingjia, Tao Zhenli
Аннотация
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) variant from his mother. Based on the guidelines of the American College of Medical Genetics and Genomics, both variations were predicted to be likely pathogenic (PM1 + PM2 + PM3 + PP3).
CONCLUSION: The compound heterozygous variants of the MVK gene probably underlay the MKD in the proband. Above findings have enriched the mutational spectrum of the MVK gene.
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) variant from his mother. Based on the guidelines of the American College of Medical Genetics and Genomics, both variations were predicted to be likely pathogenic (PM1 + PM2 + PM3 + PP3).
CONCLUSION: The compound heterozygous variants of the MVK gene probably underlay the MKD in the proband. Above findings have enriched the mutational spectrum of the MVK gene.