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-EcobWB 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 journalArticle

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 languageEnglish
Pages (from-to)221-223
Number of pages3
JournalNature Genetics
Volume37
Issue number3
Early online date6 Feb 2005
DOIs
Publication statusPublished - 1 Mar 2005

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