Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome |
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| Authors: | Gissen Paul Johnson Colin A Morgan Neil V Stapelbroek Janneke M Forshew Tim Cooper Wendy N McKiernan Patrick J Klomp Leo W J Morris Andrew A M Wraith James E McClean Patricia Lynch Sally A Thompson Richard J Lo Bryan Quarrell Oliver W Di Rocco Maja Trembath Richard C Mandel Hanna Wali S Karet Fiona E Knisely A S Houwen Roderick H J Kelly Deirdre A Maher Eamonn R |
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| Institution: | Section of Medical and Molecular Genetics, University of Birmingham, and Liver Unit, Birmingham Children's Hospital, UK. |
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| Abstract: | ARC syndrome (OMIM 208085) is an autosomal recessive multisystem disorder characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with bile duct hypoplasia and low gamma glutamyl transpeptidase (gGT) activity. Platelet dysfunction is common. Affected infants do not thrive and usually die in the first year of life. To elucidate the molecular basis of ARC, we mapped the disease to a 7-cM interval on 15q26.1 and then identified germline mutations in the gene VPS33B in 14 kindreds with ARC. VPS33B encodes a homolog of the class C yeast vacuolar protein sorting gene, Vps33, that contains a Sec1-like domain important in the regulation of vesicle-to-target SNARE complex formation and subsequent membrane fusion. |
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