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

V体育安卓版 - Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

Irene A Aligianis  1 , 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 Jr, Klaus W Kjaer, Mette Warburg, Jacqueline Bond, Richard C Trembath, Laura W Harris, Yoshimi Takai, Stefan Mundlos, David Tannahill, C Geoffery Woods, Eamonn R Maher
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Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

Irene A Aligianis et al. Nat Genet. 2005 Mar.

"V体育2025版" 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 VSports手机版. 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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