Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

Nat Genet. 2005 Mar;37(3):221-3. doi: 10.1038/ng1517.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Catalytic Domain
  • Central Nervous System / abnormalities
  • Eye Abnormalities / pathology
  • Genitalia / abnormalities
  • Humans
  • Molecular Sequence Data
  • Mutation*
  • Syndrome
  • rab GTP-Binding Proteins / genetics
  • rab GTP-Binding Proteins / metabolism*


  • rab GTP-Binding Proteins

Associated data

  • GENBANK/AF004828
  • GENBANK/D31886
  • SWISSPROT/Q15042