Supervisors info:
Μαρία Τζέτη, Αναπληρώτρια Καθηγήτρια, Ιατρική, EKΠΑ
Ιωάννα-Ραχήλ Traeger-Συνοδινού, Kαθηγήτρια, Ιατρική, ΕΚΠΑ
Ελένη Φρυσίρα, Kαθηγήτρια, Ιατρική, ΕΚΠΑ
Summary:
INTRODUCTION: Wilson’s disease (WD) is a genetic disorder characterised by accumulation of copper in the liver, brain and eyes. It is inherited with autosomal recessive pattern. Its prevalence is estimated at 1/30000.
PURPOSE: The purpose of this study was to sequence the ATP7B gene in order to detect mutations that cause Wilson disease that the patients were referred to the Medical Genetics laboratory of National and Kapodistrian University of Athens.
MATERIALS-METHODS: The study group consists of 30 persons with possible Wilson disease. The coding portions and adjoining intronic sequences of the ATP7B gene were sequenced by Sanger sequencing.
RESULTS: Sequencing of the ATP7B gene detected, 14 different mutations in 16 individuals with possible Wilson disease. The following mutations were detected: c.3525delA (p.Gly1176Aspfs*16), c.3689T>C (p.Ile1230Thr), c.3207C>A (p.His1069Gln), c.2827G>A (p.Gly943Ser), c.1707+3insT, c.3400delC (p.Ala1135Glnfs*13), c.3688A>G (p.Ile1230Val), c.4396T>C (p.Ter1466Arg), c.2906G>A (p.Arg969Gln), c.3506T>C (p.Met1169Thr), c.2530delA (p.Val845Serfs*28), c.3295G>A (p.Gly1099Ser), c.1995G>A (p.Met665Ile) and c.3284A>C (p.Gln1095Pro).
CONCLUSIONS: Mutations in ATP7B gene cause Wilson disease. The study lead to the detection of 2 new mutations (c.3525delA and c.3689T>C) and 12 previously characterized mutations. No mutations were detected in 13 individuals.
