Severe early-onset Wilson disease caused by a common pathogenic variant in the Bukharan Jewish population in Israel

• Published in: Gene Vol. 887; p. 147728
• Main Authors: Orenstein, Naama, Glassberg, Yael Mozer, Shkalim-Zemer, Vered, Basel-Salmon, Lina, Averbuch, Noa Shefer, Lagovsky, Irina, Mark, Anat Guz, Amir, Achiya Z., Bazak, Lily, Cooper, Shiri, Goldberg, Yael
• Format: Journal Article
• Language: English
• Published: Elsevier B.V 15.12.2023
• Subjects: ATP7B; Early diagnosis; Founder pathogenic variant; P.(Val1262Phe); P.(Val1262Phe); Early diagnosis; ATP7B; PV; ALF; WD; Founder pathogenic variant

•p.(Val1262Phe) is a unique pathogenic variant in ATP7B in Bukharan Jewish descent.•In our cohort, patients had a severe phenotype of WD with early onset.•A high carrier rate was discovered in Bukharan Jewish controls.•Early diagnosis is the most important factor influencing long-term prognosis in W...