Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

Irene A Aligianis; Colin A Johnson; Paul Gissen; Dongrong Chen; Daniel Hampshire; Katrin Hoffmann; Esther N Maina; Neil V Morgan; Louise Tee; Jenny Morton; John R Ainsworth; Denise Horn; Elisabeth Rosser; Trevor R P Cole; Irene Stolte-Dijkstra; Karen Fieggen; Jill Clayton-Smith; André Mégarbané; Julian P Shield; Ruth Newbury-Ecob; William B Dobyns; John M Graham; Klaus Wilbrandt Kjær; Mette Warburg; Jacqueline Bond; Richard C Trembath; Laura W Harris; Yoshimi Takai; Stefan Mundlos; David Tannahill; C Geoffery Woods; Eamonn R Maher

doi:10.1038/ng1517

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

Irene A Aligianis, Colin A Johnson, Paul Gissen, Dongrong Chen, Daniel Hampshire, Katrin Hoffmann, Esther N Maina, Neil V Morgan, Louise Tee, Jenny Morton, John R Ainsworth, Denise Horn, Elisabeth Rosser, Trevor R P Cole, Irene Stolte-Dijkstra, Karen Fieggen, Jill Clayton-Smith, André Mégarbané, Julian P Shield, Ruth Newbury-EcobWilliam B Dobyns, John M Graham, Klaus Wilbrandt Kjær, Mette Warburg, Jacqueline Bond, Richard C Trembath, Laura W Harris, Yoshimi Takai, Stefan Mundlos, David Tannahill, C Geoffery Woods, Eamonn R Maher

Institut for Cellulær og Molekylær Medicin

153 Citationer (Scopus)

Abstract

Warburg Micro syndrome (WARBM1) is a severe autosomal recessive disorder characterized by developmental abnormalities of the eye and central nervous system and by microgenitalia. We identified homozygous inactivating mutations in RAB3GAP, encoding RAB3 GTPase activating protein, a key regulator of the Rab3 pathway implicated in exocytic release of neurotransmitters and hormones, in 12 families with Micro syndrome. We hypothesize that the underlying pathogenesis of Micro syndrome is a failure of exocytic release of ocular and neurodevelopmental trophic factors.

Originalsprog	Engelsk
Tidsskrift	Nature Genetics
Vol/bind	37
Udgave nummer	3
Sider (fra-til)	221-3
Antal sider	3
ISSN	1061-4036
DOI	https://doi.org/10.1038/ng1517
Status	Udgivet - 2005

Adgang til dokumentet

10.1038/ng1517

Citationsformater

Aligianis, I. A., Johnson, C. A., Gissen, P., Chen, D., Hampshire, D., Hoffmann, K., Maina, E. N., Morgan, N. V., Tee, L., Morton, J., Ainsworth, J. R., Horn, D., Rosser, E., Cole, T. R. P., Stolte-Dijkstra, I., Fieggen, K., Clayton-Smith, J., Mégarbané, A., Shield, J. P., ... Maher, E. R. (2005). Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. Nature Genetics, 37(3), 221-3. https://doi.org/10.1038/ng1517

Aligianis, IA, Johnson, CA, Gissen, P, Chen, D, Hampshire, D, Hoffmann, K, Maina, EN, Morgan, NV, Tee, L, Morton, J, Ainsworth, JR, Horn, D, Rosser, E, Cole, TRP, Stolte-Dijkstra, I, Fieggen, K, Clayton-Smith, J, Mégarbané, A, Shield, JP, Newbury-Ecob, R, Dobyns, WB, Graham, JM, Kjær, KW, Warburg, M, Bond, J, Trembath, RC, Harris, LW, Takai, Y, Mundlos, S, Tannahill, D, Woods, CG & Maher, ER 2005, 'Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome', Nature Genetics, bind 37, nr. 3, s. 221-3. https://doi.org/10.1038/ng1517

@article{f979649d5c384c16832c4d5774f9e5f3,

title = "Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome",

abstract = "Warburg Micro syndrome (WARBM1) is a severe autosomal recessive disorder characterized by developmental abnormalities of the eye and central nervous system and by microgenitalia. We identified homozygous inactivating mutations in RAB3GAP, encoding RAB3 GTPase activating protein, a key regulator of the Rab3 pathway implicated in exocytic release of neurotransmitters and hormones, in 12 families with Micro syndrome. We hypothesize that the underlying pathogenesis of Micro syndrome is a failure of exocytic release of ocular and neurodevelopmental trophic factors.",

keywords = "Catalytic Domain, Central Nervous System, Eye Abnormalities, Genitalia, Humans, Molecular Sequence Data, Mutation, Syndrome, rab GTP-Binding Proteins",

author = "Aligianis, {Irene A} and Johnson, {Colin A} and Paul Gissen and Dongrong Chen and Daniel Hampshire and Katrin Hoffmann and Maina, {Esther N} and Morgan, {Neil V} and Louise Tee and Jenny Morton and Ainsworth, {John R} and Denise Horn and Elisabeth Rosser and Cole, {Trevor R P} and Irene Stolte-Dijkstra and Karen Fieggen and Jill Clayton-Smith and Andr{\'e} M{\'e}garban{\'e} and Shield, {Julian P} and Ruth Newbury-Ecob and Dobyns, {William B} and Graham, {John M} and Kj{\ae}r, {Klaus Wilbrandt} and Mette Warburg and Jacqueline Bond and Trembath, {Richard C} and Harris, {Laura W} and Yoshimi Takai and Stefan Mundlos and David Tannahill and Woods, {C Geoffery} and Maher, {Eamonn R}",

year = "2005",

doi = "10.1038/ng1517",

language = "English",

volume = "37",

pages = "221--3",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "nature publishing group",

number = "3",

}

TY - JOUR

T1 - Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

AU - Aligianis, Irene A

AU - Johnson, Colin A

AU - Gissen, Paul

AU - Chen, Dongrong

AU - Hampshire, Daniel

AU - Hoffmann, Katrin

AU - Maina, Esther N

AU - Morgan, Neil V

AU - Tee, Louise

AU - Morton, Jenny

AU - Ainsworth, John R

AU - Horn, Denise

AU - Rosser, Elisabeth

AU - Cole, Trevor R P

AU - Stolte-Dijkstra, Irene

AU - Fieggen, Karen

AU - Clayton-Smith, Jill

AU - Mégarbané, André

AU - Shield, Julian P

AU - Newbury-Ecob, Ruth

AU - Dobyns, William B

AU - Graham, John M

AU - Kjær, Klaus Wilbrandt

AU - Warburg, Mette

AU - Bond, Jacqueline

AU - Trembath, Richard C

AU - Harris, Laura W

AU - Takai, Yoshimi

AU - Mundlos, Stefan

AU - Tannahill, David

AU - Woods, C Geoffery

AU - Maher, Eamonn R

PY - 2005

Y1 - 2005

N2 - Warburg Micro syndrome (WARBM1) is a severe autosomal recessive disorder characterized by developmental abnormalities of the eye and central nervous system and by microgenitalia. We identified homozygous inactivating mutations in RAB3GAP, encoding RAB3 GTPase activating protein, a key regulator of the Rab3 pathway implicated in exocytic release of neurotransmitters and hormones, in 12 families with Micro syndrome. We hypothesize that the underlying pathogenesis of Micro syndrome is a failure of exocytic release of ocular and neurodevelopmental trophic factors.

AB - Warburg Micro syndrome (WARBM1) is a severe autosomal recessive disorder characterized by developmental abnormalities of the eye and central nervous system and by microgenitalia. We identified homozygous inactivating mutations in RAB3GAP, encoding RAB3 GTPase activating protein, a key regulator of the Rab3 pathway implicated in exocytic release of neurotransmitters and hormones, in 12 families with Micro syndrome. We hypothesize that the underlying pathogenesis of Micro syndrome is a failure of exocytic release of ocular and neurodevelopmental trophic factors.

KW - Catalytic Domain

KW - Central Nervous System

KW - Eye Abnormalities

KW - Genitalia

KW - Humans

KW - Molecular Sequence Data

KW - Mutation

KW - Syndrome

KW - rab GTP-Binding Proteins

U2 - 10.1038/ng1517

DO - 10.1038/ng1517

M3 - Journal article

C2 - 15696165

SN - 1061-4036

VL - 37

SP - 221

EP - 223

JO - Nature Genetics

JF - Nature Genetics

IS - 3

ER -

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

Abstract

Adgang til dokumentet

Fingeraftryk

Citationsformater