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Nat Genet. 2005 Mar;37(3):221-3.

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.

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  • 1Section of Medical and Molecular Genetics, University of Birmingham, Birmingham, B15 2TT, UK.

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.

PMID:
15696165
[PubMed - indexed for MEDLINE]
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