Access

Letter

Nature Genetics 36, 400–404 (1 April 2004) | doi:10.1038/ng1325

Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis|[ndash]|renal dysfunction|[ndash]|cholestasis (ARC) syndrome

Paul Gissen , Colin A Johnson , Neil V Morgan , Janneke M Stapelbroek , Tim Forshew , Wendy N Cooper , Patrick J McKiernan , Leo W J Klomp , Andrew A M Morris , James E Wraith , Patricia McClean , Sally A Lynch , Richard J Thompson , Bryan Lo , Oliver W Quarrell , Maja Di Rocco , Richard C Trembath , Hanna Mandel , S Wali , Fiona E Karet , A S Knisely , Roderick H J Houwen , Deirdre A Kelly & Eamonn R Maher

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.