Abstract
Hyperimmunoglobin-D syndrome is a rare hereditary auto inflammatory disorder caused by mutation in Mevalonate Kinase (MVK) gene. The clinical presentation includes dysmorphology, progressive cerebellar ataxia also characterized by fetal hydrops, hydrocele and intrauterine growth restriction. Diagnosis is based on presence of symptoms with reduction in enzyme activity or by detecting mutations in MVK gene. We present a rare case of couple with recurrent pregnancy loss having clinical presentations of Mevalonic Aciduria. Whole exome sequencing of the couple detected novel variant in MVK gene c.71A>G (p.His24Arg) causing Hyper-IgD syndrome and Mevalonic Aciduria associated with recurrent pregnancy loss.
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