ATP7B génmutációk magyarországi Wilson-kóros betegekben. Esetismertetések a betegség változatos klinikai megjelenésének bemutatására.

Translated title of the contribution: ATP7B gene mutations in Hungarian patients with Wilson disease--case reports to illustrate the diverse clinical presentations

Anikó Folhoffer, Andrea Horváth, Dalma Hegedüs, Gábor Firneisz, Kinga Dunkel, Claudia Willheim, Péter Ferenci, László Szönyi, Margit Abonyi, Péter László Lakatos, Ferenc Szalay

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

ATP7B gene mutations were examined in 70 Wilson patients from Hungary. 11 different mutations were found. In Hungary, similarly to other Central-Eastern European countries, the H1069Q was the most the frequent mutation, detected in 51 patients (73%) by semi-nested polymerase chain reaction (PCR) based restriction fragment length polymorphism (RFLP) assay. 10 further mutations have been found by sequencing as follows: P767P-fs, R778G, K844K-fs, I857T, R969Q, T977M, E1064K, M769L, Y715H and P1273S. These latter three mutations have not been described before. Among the 11 mutations there are five, which have been published only in patients of Turkish, Italian or Albanian origin. It might be the genetic consequence of the 150 years long occupation of Hungary in the 16th and 17th century by Turks. The genotype-phenotype analysis showed that the Kayser-Fleischer ring was more frequent (10/12 = 83%), and the age at the diagnosis was higher in H1069Q homozygous patients than in compound heterozygous or negative patients. Diverse clinical presentation of the disease was demonstrated by case reports giving messages for the practitioners. The gene mutation analysis is of particular importance in siblings of the index patient, since the detection of two mutant allels confirm the diagnosis of the disease even in absence of symptoms. The clinical manifestation of the disease can be preceded by the treatment.

Translated title of the contributionATP7B gene mutations in Hungarian patients with Wilson disease--case reports to illustrate the diverse clinical presentations
Original languageHungarian
Pages (from-to)2509-2515
Number of pages7
JournalOrvosi hetilap
Volume144
Issue number51
Publication statusPublished - Dec 21 2003

ASJC Scopus subject areas

  • Medicine(all)

Fingerprint Dive into the research topics of 'ATP7B gene mutations in Hungarian patients with Wilson disease--case reports to illustrate the diverse clinical presentations'. Together they form a unique fingerprint.

  • Cite this

    Folhoffer, A., Horváth, A., Hegedüs, D., Firneisz, G., Dunkel, K., Willheim, C., Ferenci, P., Szönyi, L., Abonyi, M., Lakatos, P. L., & Szalay, F. (2003). ATP7B génmutációk magyarországi Wilson-kóros betegekben. Esetismertetések a betegség változatos klinikai megjelenésének bemutatására. Orvosi hetilap, 144(51), 2509-2515.