2. Academic Validation
  3. Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

  • Nat Genet. 2005 Mar;37(3):221-3. doi: 10.1038/ng1517.
Irene A Aligianis 1,  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 Jr,  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
Affiliations

Affiliation

  • 1 Section of Medical and Molecular Genetics, University of Birmingham, Birmingham, B15 2TT, UK.
PMID: 15696165 DOI: 10.1038/ng1517
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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