Autori: F. Raicu, R. Cocoş, A. Şendroiu, D. Neagoş, R. Creţu, C. Glavce, L. Bohîlţea, I. Şendroiu

Editorial: EUROPEAN HUMAN GENETICS CONFERENCE, Barcelona SPAIN, 2008.

Rezumat:

Wilson disease (WD) is an autosomal recessive disorder caused by a defect in ATP7B gene, coding for a metal transporting P-type ATPase, resulting in cooper overload mainly in liver and brain. Increased number of Wilson disease patients in a small mountain village next to Bran region led us to initiate a population screening. We firstly screened for mutation in five WD patients from five apparently unrelated families. Direct sequencing of all 21 exons within ATP7B gene was performed for all five WD patients. Mutation analysis revealed that each of them was homozygotes and compound heterozygotes bearing three mutations, one was frameshift mutation (P767P-fs) and two were missense mutations (H1069G and K832R). Up to now we screened 20 relatives of the five WD patients and we will screen a total of 152 autochthonous inhabitants to the third generation originating from the same village, in order to find the total number of carriers for these mutations. The high number of mutations and the homozygous/compound heterozygous state made correlation between genotype and phenotype difficult. The high prevalence WD indicates the need for health education intervention, genetic counselling and newborn screening for Wilson disease in this region.

Cuvinte cheie: wilson disease, ATP7B gene, new rare gene mutation combination