Article
A New Aberration in the VPS33B Gene Leads to Full-Symptom ARCS1.
The American journal of case reports - 17 Sept 2021
Adamczyk-Gruszka Olga, Horecka-Lewitowicz Agata, Zmelonek-Znamirowska Anna, Gruszka Jakub, Koziel Dorota, Lewitowicz Piotr
Abstract excerpt
BACKGROUND ARCS1 is an acronym for arthrogryposis, renal dysfunction, and cholestasis. It is a congenital malfunction with autosomal recessive inheritance, and, unfortunately, its prognosis is still poor. It is believed that VPS33B is altered in 75% of cases and that the VIPAR gene is altered in approximately 25% of them. CASE REPORT An affected child was born from the first pregnancy of 26-year-old mother and a...
Topics
- Adult
- Arthrogryposis
- Child
- Cholestasis
- Humans
- Mutation
- Renal Insufficiency
- Vesicular Transport Proteins