Wang Junchao, Wei Xingjia, Tao Zhenli
Deparment of Paediatrics, The Third People' s Hospital of Hubei Province, Wuhan, Hubei 430415, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Apr 10;39(4):413-416. doi: 10.3760/cma.j.cn511374-20210110-00025.
To analyze the clinical and genetic features of a patient with mevalonate kinase deficiency (MKD).
Whole exome sequencing was carried out for the proband. Candidate variant was verified by Sanger sequencing.
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).
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.
分析1例甲羟戊酸激酶缺乏症（MKD）患者的临床和遗传特征。
对先证者进行全外显子组测序。候选变异通过桑格测序进行验证。
先证者被发现携带MVK基因的复合杂合变异，包括来自其父亲的c.248C>T（p.Phe83Cys）变异和来自其母亲的c.971C>T（p.Ala324Val）变异。根据美国医学遗传学与基因组学学会的指南，这两个变异均被预测可能致病（PM1 + PM2 + PM3 + PP3）。
MVK基因的复合杂合变异可能是先证者MKD的病因。上述发现丰富了MVK基因的突变谱。
