Abstract
Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare but fatal autosomal recessive multisystem disorder caused by mutations in the VPS33B or VIPAR gene. The classical presentation of ARC includes congenital joint contractures, renal tubular dysfunction, and cholestasis. Additional features include ichthyosis, central nervous system malformation, platelet anomalies, and severe failure to thrive. Diagnosis of ARC syndrome relies on clinical features, organ biopsy, and mutational analysis. However, no specific treatment currently exists for this syndrome.ConclusionThis is an overview of the latest knowledge regarding the genetic features and clinical manifestations of ARC syndrome. Greater awareness and understanding of this syndrome should allow more timely intervention with potential for improving long-term outcome.
Highlights
This is an overview of the latest knowledge regarding the genetic features and clinical manifestations of Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome
Though a Leiden Open-Source Variation Database (LOVD) for ARC has been established by collating all relevant published variants observed in vacuolar protein sorting 33 homolog B (VPS33B) and VIPAR, further analysis is still in urgent need to highlight variants that have been classified as “pathogenic” worldwide, and facilitate accurately counseling and improved disease management
Arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome (MIM 208085) is a rare autosomal recessive disorder, which was first recognized in the offspring of a consanguineous marriage in 1973 [1]
Summary
No specific treatment currently exists for ARC syndrome. Comprehensive analysis of family history, classical clinical presentations, biopsy of the liver or kidney, and/or genetic mutational analysis may facilitate accurate diagnosis and the development of appropriately tailored treatment at an early stage and provide genetic counseling and prenatal or preimplantation genetic diagnosis for the affected families. With the continued progress of molecular genetics and medical technologies, future attempts at gene therapy may yield improvements in managing or even curing ARC syndrome. Authors’ contributions YZ participated in the design and draft of the manuscript. JZ was involved in designing and revising the manuscript critically for important intellectual content. Both authors read and approved the final manuscript
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