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

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.