ArticleHuman mutation2012
Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.
Article in Human mutation, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
33 citing papers in PubMed, 88 citations in OpenAlex.
- Molecular diagnosis of inherited platelet disorder via a targeted whole-exome virtual gene panel: a 5-year institutional experience.Research and practice in thrombosis and haemostasis · 2026Article
- Article
- Features of Congenital Arthrogryposis Due to Abnormalities in Collagen Homeostasis, a Scoping Review.International journal of molecular sciences · 2023Article
- Overlapping Machinery in Lysosome-Related Organelle Trafficking: A Lesson from Rare Multisystem Disorders.Cells · 2022Review
- Two novel mutations in theWorld journal of clinical cases · 2022Article
- One case of arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome featuring an incomplete and mild phenotype.BMC nephrology · 2022Article
- Novel gene mutations in three Japanese patients with ARC syndrome associated mild phenotypes: a case series.Journal of medical case reports · 2022Article
- Mild Phenotype of Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 1 Caused by a NovelFrontiers in genetics · 2022Article
- Two novel mutations inFrontiers in pediatrics · 2022Article
- An uncommon case of arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome and review of the renal involvement: Answers.Pediatric nephrology (Berlin, Germany) · 2020Article
- A Novel Mutation ofCase reports in genetics · 2020Article
- A NovelPediatric gastroenterology, hepatology & nutrition · 2019Article
- The road to lysosome-related organelles: Insights from Hermansky-Pudlak syndrome and other rare diseases.Traffic (Copenhagen, Denmark) · 2019Review
- A novel mutation inJIMD reports · 2019Article
- Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome: a rare association with high GGT level and absent kidney.BMJ case reports · 2018Article
- Severe renal Fanconi and management strategies in Arthrogryposis-Renal dysfunction-Cholestasis syndrome: a case report.BMC nephrology · 2018Article
- VPS33B and VIPAR are essential for epidermal lamellar body biogenesis and function.Biochimica et biophysica acta. Molecular basis of disease · 2018Article
- Vps3 and Vps8 control integrin trafficking from early to recycling endosomes and regulate integrin-dependent functions.Nature communications · 2018Article
- [Clinical features and VPS33B mutations in a family affected by arthrogryposis, renal dysfunction, and cholestasis syndrome].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2017Article
- Vps33b is crucial for structural and functional hepatocyte polarity.Journal of hepatology · 2017Article
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Authors and funding
24 authors at 17 institutions in 7 countries.
Funding
Abstract
Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare autosomal recessive multisystem disorder caused by mutations in vacuolar protein sorting 33 homologue B (VPS33B) and VPS33B interacting protein, apical-basolateral polarity regulator (VIPAR). Cardinal features of ARC include congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis, and a defect in platelet alpha-granule biogenesis. Most patients with ARC do not survive past the first year of life. We report two patients presenting with a mild ARC phenotype, now 5.5 and 3.5 years old. Both patients were compound heterozygotes with the novel VPS33B donor splice-site mutation c.1225+5G>C in common. Immunoblotting and complementary DNA analysis suggest expression of a shorter VPS33B transcript, and cell-based assays show that c.1225+5G>C VPS33B mutant retains some ability to interact with VIPAR (and thus partial wild-type function). This study provides the first evidence of genotype-phenotype correlation in ARC and suggests that VPS33B c.1225+5G>C mutation predicts a mild ARC phenotype. We have established an interactive online database for ARC (https://grenada.lumc.nl/LOVD2/ARC) comprising all known variants in VPS33B and VIPAR. Also included in the database are 15 novel pathogenic variants in VPS33B and five in VIPAR.
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