WILSON DISEASE

Abstract

Objectives: 1). To study the genotypic differences, if any, between
Pakistani children suffering from Wilson’s disease from those in the west and to correlate phenotype with genotype. 2).
To find out the most frequent mutations present in our patients and screen out asymptomatic siblings of the index cases.
Setting: Department of Pediatrics, Allied Hospital, Punjab Medical College, Faisalabad. Duration: May 1997 to June
2005. Materials and methods: 41 patients ranging from 5-18 years were diagnosed based on clinical and laboratory
data. 13 patients and 6 asymptomatic siblings along with their parents were subjected to mutation analysis. at University
of Vienna, Austria. Results: None of the patients had His1069Gln, the commonest European mutation. R969Q and
I1102T detected in our patients have previously been described. Four novel mutations were found. Asymptomatic
siblings screened were either heterozygote or normal. R969Q appears to be associated with sub-acute liver disease
with hepatosplenomegaly. I1102T was seen in children with chronic liver disease and L1071W, C1079Y and E583R-fs
(insA) with early onset of neurological disease. Conclusion: Our Patients are phenotypicaly as well as genotypicaly
different. Different genotype could be responsible for the phenotype. Further studies are needed with a larger sample
size so that molecular genetic tests be devised for early diagnosis and family screening.