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Homozygous V377I mutation causing mevalonate kinase.
Teresa Brito1, Denise Banganho2, Cristina Pedrosa1
1Pediatrics Department, Hospital de São Bernardo, Centro Hospitalar de Setúbal, EPE, Setubal, Portugal.
BMJ Case Reports
|April 7, 2022
Summary
Hyperimmunoglobulinaemia D syndrome (HIDS) is a rare genetic autoinflammatory disease. A case study identified a homozygous V337I mutation in the MVK gene, providing insights into HIDS genetics.
Area of Science:
- Genetics
- Immunology
- Biochemistry
Background:
- Hyperimmunoglobulinaemia D syndrome (HIDS) is a rare autosomal recessive autoinflammatory disorder.
- It is caused by mutations in the mevalonate kinase (MVK) gene, commonly V377I.
- HIDS presents with recurrent fevers, rash, abdominal pain, and arthritis, often triggered by external factors.
Observation:
- A 2-year-old girl experienced recurrent fevers, cervical lymphadenopathy, rash, abdominal pain, and oral ulcers.
- Elevated urinary mevalonic acid levels were detected in the patient.
- Genetic analysis revealed a homozygous V337I mutation in the MVK gene.
Findings:
- The identified homozygous V337I mutation in the MVK gene is associated with Hyperimmunoglobulinaemia D syndrome.
- Elevated mevalonic acid excretion confirms a defect in the mevalonate pathway.
- This case highlights a specific genetic cause for HIDS symptoms.
Implications:
- Understanding the genetic basis of HIDS, particularly the homozygous V337I mutation, aids in diagnosis and management.
- This finding contributes to the knowledge of MVK gene mutations and their phenotypic variations.
- Further research into HIDS pathogenesis can lead to targeted therapies for this rare autoinflammatory disease.
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