Wilson Disease: demographic and phenotypical aspects related to ATP7B genotype

• Grant number: 06/00499-1
• Support Opportunities: Regular Research Grants
• Start date: November 01, 2006
• End date: November 30, 2011
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal Investigator: Marta Mitiko Deguti
• Grantee: Marta Mitiko Deguti
• Host Institution: Faculdade de Medicina (FM). Universidade de São Paulo (USP). São Paulo , SP, Brazil

Abstract

Wilson disease (WD) disease is a rare inherited condition associated with ATP7B gene mutations, which occurs in all regions of Brazil. Classically, WD symptoms manifests in the first two decades of life, with severe brain and liver symptoms. However, early diagnosis and treatment can prevent patients from such bad picture. In the last 5 years, we performed ATP7B genotyping in 60 Brazilian WD patients in cooperation with the Humboldt University from Berlin, Germany. We have identified a total of 25 distinct mutations, 12 of which novel in the literature. However, a larger cohort is needed in order to establish genotype and phenotype correlations. In this next stage, we intend to obtain autonomy in the genotyping analysis of out patients. Our aim is to perform ATP7B gene sequencing in Brazilian WD patients, and in patients in whom WD was suspected but not defined, and to establish correlation between genotype with phenotype. (AU)