Analysis of MVK gene variant in a child with high IgD syndrome caused by mevalonate kinase deficiency.
10.3760/cma.j.cn511374-20210110-00025
- VernacularTitle:一例甲羟戊酸激酶缺乏导致的高IgD综合征患儿的
MVK基因变异分析
- Author:
Junchao WANG
1
;
Xingjia WEI
;
Zhenli TAO
Author Information
1. Deparment of Paediatrics, The Third People' s Hospital of Hubei Province, Wuhan, Hubei 430415, China. 664193069@qq.com.
- Publication Type:Journal Article
- MeSH:
Child;
Genomics;
Humans;
Immunoglobulin D/genetics*;
Mevalonate Kinase Deficiency/genetics*;
Mutation;
Whole Exome Sequencing
- From:
Chinese Journal of Medical Genetics
2022;39(4):413-416
- CountryChina
- Language:Chinese
-
Abstract:
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.
