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ATP7B Gene Mutations in Croatian Patients with Wilson Disease
Hana Ljubić1, Mirjana Kalauz2, Srđana Telarović3
11 Department of Laboratory Diagnostics, University Hospital Centre Zagreb , Zagreb, Croatia .
Genetic Testing and Molecular Biomarkers
|January 23, 2016
Summary
Genetic analysis of Wilson disease (WD) in Croatian patients identified 18 ATP7B gene mutations, with p.His1069Gln being the most common. Clinical presentation did not correlate with specific genotypes.
Area of Science:
- Genetics
- Human Molecular Genetics
- Biochemistry
Background:
- Wilson disease (WD) is an inherited disorder affecting copper metabolism.
- Copper accumulation leads to hepatic, neurological, and psychiatric manifestations.
- Understanding the genetic basis of WD is crucial for diagnosis and management.
Purpose of the Study:
- To investigate the genetic landscape of Wilson disease in the Croatian population.
- To correlate clinical subtypes and age of onset with ATP7B gene mutations.
- To identify novel mutations within the ATP7B gene.
Main Methods:
- Genotyping of 75 Croatian Wilson disease patients.
- Direct mutational analysis for p.His1069Gln.
- Sequence analysis of coding and flanking intronic regions of the ATP7B gene.
Main Results:
- Eighteen distinct ATP7B gene mutations were identified, including three novel mutations.
- The p.His1069Gln mutation was prevalent, found in 58.7% of patients.
- The majority of mutations (90.4%) were localized to specific exons (5, 8, 13, 14, 15).
Conclusions:
- Genetic confirmation of WD was achieved in 59 patients by identifying biallelic ATP7B mutations.
- No significant correlation was observed between the age of onset or clinical presentation and the ATP7B genotype.
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