doi: 10.1038/ng1517.
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome
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- PMID: 15696165
- DOI: 10.1038/ng1517
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Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome
Nat Genet.
2005 Mar.
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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