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

Department of Cellular and Molecular Medicine

153 Citations (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.

Original language	English
Journal	Nature Genetics
Volume	37
Issue number	3
Pages (from-to)	221-3
Number of pages	3
ISSN	1061-4036
DOIs	https://doi.org/10.1038/ng1517
Publication status	Published - 2005

Keywords

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

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

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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.",

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AU - Johnson, Colin A

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AU - Hampshire, Daniel

AU - Hoffmann, Katrin

AU - Maina, Esther N

AU - Morgan, Neil V

AU - Tee, Louise

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AU - Ainsworth, John R

AU - Horn, Denise

AU - Rosser, Elisabeth

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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

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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

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DO - 10.1038/ng1517

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SP - 221

EP - 223

JO - Nature: New biology

JF - Nature: New biology

IS - 3

ER -

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

Abstract

Keywords

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