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

P Gissen; CA Johnson; NV Morgan; JM Stapelbroek; T Forshew; WN Cooper; PJ McKiernan; LWJ Klomp; AAM 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; RHJ Houwen; DA Kelly; ER Maher

doi:10.1038/ng1325

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

P Gissen, CA Johnson, NV Morgan, JM Stapelbroek, T Forshew, WN Cooper, PJ McKiernan, LWJ Klomp, AAM 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, RHJ Houwen, DA Kelly, ER Maher^*

^*Corresponding author for this work

University of Groningen

Research output: Contribution to journal › Article › Academic › peer-review

291 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(1-5). 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(6-9).

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

Keywords

SINGLE-NUCLEOTIDE POLYMORPHISMS
TRANSPORT
PROTEINS
DROSOPHILA
CARNATION
SYNTAXIN
HOMOLOG
PATHWAY

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Gissen, P., Johnson, CA., Morgan, NV., Stapelbroek, JM., Forshew, T., Cooper, WN., McKiernan, PJ., Klomp, LWJ., Morris, AAM., Wraith, JE., McClean, P., Lynch, SA., Thompson, RJ., Lo, B., Quarrell, OW., Di Rocco, M., Trembath, RC., Mandel, H., Wali, S., ... Maher, ER. (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{34effd38ad12430db564db34334c480d,

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(1-5). 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(6-9).",

keywords = "SINGLE-NUCLEOTIDE POLYMORPHISMS, TRANSPORT, PROTEINS, DROSOPHILA, CARNATION, SYNTAXIN, HOMOLOG, PATHWAY",

author = "P Gissen and CA Johnson and NV Morgan and JM Stapelbroek and T Forshew and WN Cooper and PJ McKiernan and LWJ Klomp and AAM 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 RHJ Houwen and DA Kelly and ER Maher",

year = "2004",

month = apr,

doi = "10.1038/ng1325",

language = "English",

volume = "36",

pages = "400--404",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Publishing Group",

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Gissen, P, Johnson, CA, Morgan, NV, Stapelbroek, JM, Forshew, T, Cooper, WN, McKiernan, PJ, Klomp, LWJ, Morris, AAM, 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, RHJ, Kelly, DA & Maher, ER 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, P

AU - Johnson, CA

AU - Morgan, NV

AU - Stapelbroek, JM

AU - Forshew, T

AU - Cooper, WN

AU - McKiernan, PJ

AU - Klomp, LWJ

AU - Morris, AAM

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, RHJ

AU - Kelly, DA

AU - Maher, ER

PY - 2004/4

Y1 - 2004/4

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(1-5). 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(6-9).

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(1-5). 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(6-9).

KW - SINGLE-NUCLEOTIDE POLYMORPHISMS

KW - TRANSPORT

KW - PROTEINS

KW - DROSOPHILA

KW - CARNATION

KW - SYNTAXIN

KW - HOMOLOG

KW - PATHWAY

U2 - 10.1038/ng1325

DO - 10.1038/ng1325

M3 - Article

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

Keywords

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