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- Title
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.
- Authors
Aligianis, Irene A; Johnson, Colin A; Gissen, Paul; Chen, Dongrong; Hampshire, Daniel; Hoffmann, Katrin; Maina, Esther N; Morgan, Neil V; Tee, Louise; Morton, Jenny; Ainsworth, John R; Horn, Denise; Rosser, Elisabeth; Cole, Trevor R P; Stolte-Dijkstra, Irene; Fieggen, Karen; Clayton-Smith, Jill; Mégarbané, André; Shield, Julian P; Newbury-Ecob, Ruth; Dobyns, William B; Graham, John M, Jr; Kjaer, Klaus W; Warburg, Mette; Bond, Jacqueline; Trembath, Richard C; Harris, Laura W; Takai, Yoshimi; Mundlos, Stefan; Tannahill, David; Woods, C Geoffery; Maher, Eamonn R
- 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.
- Publication
Nature genetics, 2005, Vol 37, Issue 3, p221
- ISSN
1061-4036
- Publication type
Journal Article
- DOI
10.1038/ng1517