Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

Irene Aligianis; Colin Johnson; Paul Gissen; DR Chen; D Hampshire; K Hoffmann; Esther Maina; Neil Morgan; Louise Tee; Jane Morton; John Ainsworth; D Horn; E Rosser; Trevor Cole; I Stolte-Dijkstra; K Fieggen; J Clayton-Smith; A Megarbane; JP Shield; R Newbury-Ecob; WB Dobyns; [No Value] [No Value]; KW Kjaer; M Warburg; Judith Bond; RC Trembath; LW Harris; Y Takai; S Mundlos; D Tannahill; CG Woods; Eamonn Maher

doi:10.1038/ng1517

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

Irene Aligianis
, Colin Johnson
, Paul Gissen
, DR Chen
, D Hampshire
, K Hoffmann
, Esther Maina
, Neil Morgan
, Louise Tee
, Jane Morton
, John Ainsworth
, D Horn
, E Rosser
, Trevor Cole
, I Stolte-Dijkstra
, K Fieggen
, J Clayton-Smith
, A Megarbane
, JP Shield
, R Newbury-Ecob

WB Dobyns, [No Value] [No Value], KW Kjaer, M Warburg, Judith Bond, RC Trembath, LW Harris, Y Takai, S Mundlos, D Tannahill, CG Woods, Eamonn Maher

Research output: Contribution to journal › Article

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
Pages (from-to)	221-223
Number of pages	3
Journal	Nature Genetics
Volume	37
Issue number	3
Early online date	6 Feb 2005
DOIs	https://doi.org/10.1038/ng1517
Publication status	Published - 1 Mar 2005

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Aligianis, I., Johnson, C., Gissen, P., Chen, DR., Hampshire, D., Hoffmann, K., Maina, E., Morgan, N., Tee, L., Morton, J., Ainsworth, J., Horn, D., Rosser, E., Cole, T., Stolte-Dijkstra, I., Fieggen, K., Clayton-Smith, J., Megarbane, A., Shield, JP., ... Maher, E. (2005). Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. Nature Genetics, 37(3), 221-223. https://doi.org/10.1038/ng1517

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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 = "Irene Aligianis and Colin Johnson and Paul Gissen and DR Chen and D Hampshire and K Hoffmann and Esther Maina and Neil Morgan and Louise Tee and Jane Morton and John Ainsworth and D Horn and E Rosser and Trevor Cole and I Stolte-Dijkstra and K Fieggen and J Clayton-Smith and A Megarbane and JP Shield and R Newbury-Ecob and WB Dobyns and \{[No Value]\}, \{[No Value]\} and KW Kjaer and M Warburg and Judith Bond and RC Trembath and LW Harris and Y Takai and S Mundlos and D Tannahill and CG Woods and Eamonn Maher",

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doi = "10.1038/ng1517",

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Aligianis, I, Johnson, C, Gissen, P, Chen, DR, Hampshire, D, Hoffmann, K, Maina, E, Morgan, N , Tee, L, Morton, J, Ainsworth, J, Horn, D, Rosser, E, Cole, T, Stolte-Dijkstra, I, Fieggen, K, Clayton-Smith, J, Megarbane, A, Shield, JP, Newbury-Ecob, R, Dobyns, WB, [No Value], NV, Kjaer, KW, Warburg, M, Bond, J, Trembath, RC, Harris, LW, Takai, Y, Mundlos, S, Tannahill, D, Woods, CG & Maher, E 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

TY - JOUR

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

AU - Aligianis, Irene

AU - Johnson, Colin

AU - Gissen, Paul

AU - Chen, DR

AU - Hampshire, D

AU - Hoffmann, K

AU - Maina, Esther

AU - Morgan, Neil

AU - Tee, Louise

AU - Morton, Jane

AU - Ainsworth, John

AU - Horn, D

AU - Rosser, E

AU - Cole, Trevor

AU - Stolte-Dijkstra, I

AU - Fieggen, K

AU - Clayton-Smith, J

AU - Megarbane, A

AU - Shield, JP

AU - Newbury-Ecob, R

AU - Dobyns, WB

AU - [No Value], [No Value]

AU - Kjaer, KW

AU - Warburg, M

AU - Bond, Judith

AU - Trembath, RC

AU - Harris, LW

AU - Takai, Y

AU - Mundlos, S

AU - Tannahill, D

AU - Woods, CG

AU - Maher, Eamonn

PY - 2005/3/1

Y1 - 2005/3/1

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 - https://www.scopus.com/pages/publications/20144376966

U2 - 10.1038/ng1517

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SN - 1546-1718

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

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