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

Paul Gissen; Colin Johnson; Neil Morgan; JM Stapelbroek; T Forshew; Wendy Cooper; Patrick McKiernan; LW Klomp; AA Morris; JE Wraith; P McClean; SA Lynch; RJ Thompson; B Lo; OW Quarrell; M Di Rocco; RC Trembath; H Mandel; S Wali; FE Karet; AS Knisely; RH Houwen; Deirdre Kelly; Eamonn Maher

doi:10.1038/ng1325

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

Paul Gissen, Colin Johnson, Neil Morgan, JM Stapelbroek, T Forshew, Wendy Cooper, Patrick McKiernan, LW Klomp, AA Morris, JE Wraith, P McClean, SA Lynch, RJ Thompson, B Lo, OW Quarrell, M Di Rocco, RC Trembath, H Mandel, S Wali, FE KaretAS Knisely, RH Houwen, Deirdre Kelly, Eamonn Maher

Research output: Contribution to journal › Article

249 Citations (Scopus)

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.

Original language	English
Pages (from-to)	400-404
Number of pages	5
Journal	Nature Genetics
Volume	36
Issue number	4
Early online date	28 Mar 2004
DOIs	https://doi.org/10.1038/ng1325
Publication status	Published - 28 Mar 2004

Access to Document

10.1038/ng1325

Cite this

Gissen, P., Johnson, C., Morgan, N., Stapelbroek, JM., Forshew, T., Cooper, W., McKiernan, P., Klomp, LW., Morris, AA., Wraith, JE., McClean, P., Lynch, SA., Thompson, RJ., Lo, B., Quarrell, OW., Di Rocco, M., Trembath, RC., Mandel, H., Wali, S., ... Maher, E. (2004). Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal-dysfunction-cholestasis (ARC) syndrome. Nature Genetics, 36(4), 400-404. https://doi.org/10.1038/ng1325

@article{441d8429b79842cb8ace63494723c87e,

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

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.",

author = "Paul Gissen and Colin Johnson and Neil Morgan and JM Stapelbroek and T Forshew and Wendy Cooper and Patrick McKiernan and LW Klomp and AA Morris and JE Wraith and P McClean and SA Lynch and RJ Thompson and B Lo and OW Quarrell and {Di Rocco}, M and RC Trembath and H Mandel and S Wali and FE Karet and AS Knisely and RH Houwen and Deirdre Kelly and Eamonn Maher",

year = "2004",

month = mar,

day = "28",

doi = "10.1038/ng1325",

language = "English",

volume = "36",

pages = "400--404",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Publishing Group",

number = "4",

}

Gissen, P, Johnson, C, Morgan, N, Stapelbroek, JM, Forshew, T, Cooper, W, McKiernan, P, Klomp, LW, Morris, AA, Wraith, JE, McClean, P, Lynch, SA, Thompson, RJ, Lo, B, Quarrell, OW, Di Rocco, M, Trembath, RC, Mandel, H, Wali, S, Karet, FE, Knisely, AS, Houwen, RH, Kelly, D & Maher, E 2004, 'Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal-dysfunction-cholestasis (ARC) syndrome', Nature Genetics, vol. 36, no. 4, pp. 400-404. https://doi.org/10.1038/ng1325

TY - JOUR

T1 - Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal-dysfunction-cholestasis (ARC) syndrome

AU - Gissen, Paul

AU - Johnson, Colin

AU - Morgan, Neil

AU - Stapelbroek, JM

AU - Forshew, T

AU - Cooper, Wendy

AU - McKiernan, Patrick

AU - Klomp, LW

AU - Morris, AA

AU - Wraith, JE

AU - McClean, P

AU - Lynch, SA

AU - Thompson, RJ

AU - Lo, B

AU - Quarrell, OW

AU - Di Rocco, M

AU - Trembath, RC

AU - Mandel, H

AU - Wali, S

AU - Karet, FE

AU - Knisely, AS

AU - Houwen, RH

AU - Kelly, Deirdre

AU - Maher, Eamonn

PY - 2004/3/28

Y1 - 2004/3/28

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=12144290067&partnerID=8YFLogxK

U2 - 10.1038/ng1325

DO - 10.1038/ng1325

M3 - Article

C2 - 15052268

SN - 1061-4036

VL - 36

SP - 400

EP - 404

JO - Nature Genetics

JF - Nature Genetics

IS - 4

ER -

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

Abstract

Access to Document

Fingerprint

Cite this