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 W. Kjaer, Mette Warburg, Jacqueline Bond, Richard C. Trembath, Laura W. Harris, Yoshimi Takai, Stefan Mundlos, David Tannahill, C. Geoffery Woods, Eamonn R. Maher

Research output: Contribution to journalArticlepeer-review

150 Scopus citations

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 (US)
Pages (from-to)221-223
Number of pages3
JournalNature Genetics
Volume37
Issue number3
DOIs
StatePublished - 2005
Externally publishedYes

Fingerprint Dive into the research topics of 'Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome'. Together they form a unique fingerprint.

Cite this