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Article

Genetic profiling of Wilson disease reveals a potential recurrent pathogenic variant of ATP7B in the Jordanian population.

Journal of pediatric gastroenterology and nutrition - 1 Mar 2025

Khdair Ahmad Fareed, Aburizeg Dunia, Rayyan Yaser, Tamimi Tarek A, Burayzat Salma, Ghanma Abdullah, Barbar Maha, Azab Bilal

Abstract excerpt

OBJECTIVES: Wilson disease (WD) is an autosomal-recessive disorder that disrupts copper homeostasis. ATPase copper transporting beta (ATP7B) gene is implicated as the disease-causing gene in WD. The common symptoms associated with WD include hepatic, neurological, psychiatric, and ophthalmic manifestations. The genetic landscape of WD is under-investigated in the Middle East and has never been studied in Jordan....

Read the complete abstract on PubMed

Topics

Humans
Hepatolenticular Degeneration
Copper-Transporting ATPases
Male
Female
Jordan

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Child

Adolescent

Pedigree

Adult

Young Adult

Child, Preschool

Mutation

Consanguinity

Source

Identifiers

PMID: 39763201
DOI: 10.1002/jpn3.12446

Genes

ATP7B

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 19 Oct 2026.

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