| Literature DB >> 15052268 |
Paul Gissen1, 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.
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.Entities:
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Year: 2004 PMID： 15052268 DOI： 10.1038/ng1325
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330