Cooper WN

Di Rocco M

Forshew T

Gissen P

Houwen RHJ

Johnson CA

Karet FE

Kelly DA

Klomp LWJ

Knisely AS

Lo B

Lynch SA

Maher ER

Mandel H

McClean P

McKiernan PJ

Morgan NV

Morris AAM

Quarrell OW

Stapelbroek JM

Thompson RJ

Trembath RC

Wali S

Wraith JE

ARC syndrome (OMIM 208085) is an autosomal recessive multisystem disorder cbaracterized 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

Newcastle University E-Prints

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

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

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