After localisation of the HIDS gene on the long arm of chromosome 12 (12q24) investigations have led to the identification of the gene for mevalonate kinase (MVK) as the HIDS disease gene. Mevalonate kinase is involved in the cholesterol biosynthesis and converts mevalonate in 5-phosphate mevalonate.
In HIDS there is a reduced enzyme activity due to missense mutations (or in rare cases small deletions) in the MVK gene. The missense mutations V377I and I268T are the most prevalent mutations found in HIDS. The identification of the HIDS gene has revolutionised the possibilities for diagnosis.
At the Department of Human Genetics of the University Medical Center Nijmegen it is possible to have samples analysed for the presence of mutations in the HIDS disease gene. Physicians can submit samples (extracted DNA, or 10-20 cc EDTA-blood) from index patients, preferably together with samples of the parents, by regular mail at room temperature.
Special request forms for DNA diagnosis and more detailed information can be obtained from the website of the Division of DNA Diagnostics at the University Medical Center Nijmegen, the Netherlands. According to the Dutch regulations for DNA diagnostics the usual rate is 650 Euro per analysed sample.
Last update: March 14, 2006
