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

I A Aligianis, C A Johnson, P Gissen, D Chen, D Hampshire, K Hoffmann, E N Maina, N V Morgan, L Tee, J Morton, J R Ainsworth, D Horn, E Rosser, T R Cole, I Stolte-Dijkstra, K Fieggen, J Clayton-Smith, A Megarbane, J P Shield, R Newbury-EcobW B Dobyns, J M Graham, K W Kjaer, M Warburg, J Bond, R C Trembath, L W Harris, Y Takai, S Mundlos, D Tannahill, C G Woods, E R Maher

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189 Citations (Scopus)

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
Original languageEnglish
Pages (from-to)221 - 223
Number of pages3
JournalNature Genetics
Volume37
Issue number3
DOIs
Publication statusPublished - 2005

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