STUDY OF PHENOTYPE-GENOTYPE CORRELATIONS IN WILSON'S DISEASE

Although the Wilson disease gene was discovered seven years ago and many mutations of this gene were reported so far, genetic testing has a limited role for diagnosis of Wilson's disease. In part, this is due to the multiple mutation of the WD gene but also due to a lack of a precise knowledge on the clinical effect (phenotype) of a particular mutation (genotype).

Therefore we started a study to investigate the role of WD mutations by correlating the genotype with clinical data like age at onset of symptoms, type of symptoms, liver pathology, presence or absence of neurological symptoms. So far, we genotyped more than 250 European patients, but for a meaningful analysis we would need about 1000 patients.

To achieve this goal, we need your cooperation.

If you wish and/or are willing to cooperate, we would need

5cc of blood in EDTA tube (no cooling necessary)
{your doctor can arrange this for you)

sent by express mail to:

Prof. Dr. Peter Ferenci
Lab 6 P
Dept. of Internal Medicine IV
Univ. of Vienna
Waehringer Guertel 18-20
A 1090 Wien, Austria

Fax: +43 1 40400 4735
E-mail: peter.ferenci@akh-wien.ac.at or claudia.polli@akh-wien.ac.at

Testing is free of charge and includes routinely a PCR-test for the H1069Q mutation and sequencing of exons 8 and 15. This approach identifies about 85% of mutations in WD patients of European origin.

The test result will be sent to you within 6 weeks and
we will ask you to fill out a short questionnaire on your symptoms.

If this approach fails to detect your mutation, we will sequence all exons, but this may take substantially longer!

If you have any questions, please contact me by E-mail.

Thank you for your cooperation!

The data will be presented at the 8th International Meeting on Wilson's Disease (April 20-23, 2001, Leipzig, Germany).