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Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

  • 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-Ecob
  • William B Dobyns
  • John M Graham
  • Mette Warburg
  • Jacqueline Bond
  • Richard C Trembath
  • Laura W Harris
  • Yoshimi Takai
  • Stefan Mundlos
  • David Tannahill
  • C Geoffery Woods
  • Eamonn R Maher
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.
OriginalsprogEngelsk
TidsskriftNature Genetics
Vol/bind37
Udgave nummer3
Sider (fra-til)221-3
Antal sider3
ISSN1061-4036
DOI
StatusUdgivet - 2005

ID: 40340908