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 W. Kjaer; 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 W. Kjaer, Mette Warburg, Jacqueline Bond, Richard C. Trembath, Laura W. Harris, Yoshimi Takai, Stefan Mundlos, David Tannahill, C. Geoffery Woods, Eamonn R. Maher

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

189 Scopus citations

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.

Original language	English (US)
Pages (from-to)	221-223
Number of pages	3
Journal	Nature Genetics
Volume	37
Issue number	3
DOIs	https://doi.org/10.1038/ng1517
State	Published - 2005
Externally published	Yes

Bibliographical note

Funding Information:
We thank the families who helped with this research; many colleagues, particularly E.R. Roeder and C.J. Curry, for referring affected individuals; and the UK Birth Defects Foundation, the Wellcome Trust and Birmingham Women’s Hospital R&D Fund for financial support.

Access

10.1038/ng1517

OpenUrl availability

Full text

Cite this

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), 221-223. 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, Kjaer, 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, vol. 37, no. 3, pp. 221-223. https://doi.org/10.1038/ng1517

@article{7119d4988329471285dc93d822706514,

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.",

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 Kjaer, {Klaus W.} 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.}",

note = "Funding Information: We thank the families who helped with this research; many colleagues, particularly E.R. Roeder and C.J. Curry, for referring affected individuals; and the UK Birth Defects Foundation, the Wellcome Trust and Birmingham Women{\textquoteright}s Hospital R&D Fund for financial support.",

year = "2005",

doi = "10.1038/ng1517",

language = "English (US)",

volume = "37",

pages = "221--223",

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 - Kjaer, Klaus W.

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.

N1 - Funding Information: We thank the families who helped with this research; many colleagues, particularly E.R. Roeder and C.J. Curry, for referring affected individuals; and the UK Birth Defects Foundation, the Wellcome Trust and Birmingham Women’s Hospital R&D Fund for financial support.

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.

UR - http://www.scopus.com/inward/record.url?scp=20144376966&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=20144376966&partnerID=8YFLogxK

U2 - 10.1038/ng1517

DO - 10.1038/ng1517

M3 - Article

C2 - 15696165

AN - SCOPUS:20144376966

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

Bibliographical note

Access

OpenUrl availability

Other files and links

Fingerprint

Cite this