The H1069Q mutation in Wilson disease is correlated with a late and neurological presentation
Wilson disease is an autosomal recessive disorder of copper metabolism, caused by mutations in the gene coding for the ATP7B protein. These mutations result in a defect in the biliary excretion of this metal, causing copper accumulation in the liver and subsequently in the brain and other organs. Patients will generally present with either symptoms of liver involvement or neurological disease. In addition a wide variation in the age at presentation is seen. Over 200 disease specific mutations have been identified, with the H1069Q mutation, in exon 14 of the ATP7B gene on chromosome 13, being the most frequent.
The aim of this study was to search for a correlation between the H1069Q mutation and the phenotypic manifestation in 62 Dutch patients with Wilson disease.
To find this putative correlation, we collected the clinical data at presentation and information about the genotype from these 62 patients. When the genotype was not known, we performed a screening for the H1069Q mutation by direct sequencing.
After analysis we are able to conclude that there is a significant correlation between the H1069Q mutation and a late and neurological presentation.
At the moment the following Research-physician is working on this project: Janneke Stapelbroek
Publication:
Stapelbroek JM, Bollen CW, van Amstel JK, van Erpecum KJ, van Hattum J, van den Berg LH, Klomp LW, Houwen RH. The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease: results of a meta-analysis. J Hepatol. 2004 Nov;41(5):758-63.
Last update: 30 May 2005