Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome
- 6 February 2005
- journal article
- research article
- Published by Springer Nature in Nature Genetics
- Vol. 37 (3) , 221-224
- https://doi.org/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.Keywords
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