title: Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.
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.
authors.affiliation: Section of Medical and Molecular Genetics, University of Birmingham, Birmingham, B15 2TT, UK.
authors.forename: Irene A
authors.initials: IA
authors.lastname: Aligianis
authors.forename: Colin A
authors.initials: CA
authors.lastname: Johnson
authors.forename: Paul
authors.initials: P
authors.lastname: Gissen
authors.forename: Dongrong
authors.initials: D
authors.lastname: Chen
authors.forename: Daniel
authors.initials: D
authors.lastname: Hampshire
authors.forename: Katrin
authors.initials: K
authors.lastname: Hoffmann
authors.forename: Esther N
authors.initials: EN
authors.lastname: Maina
authors.forename: Neil V
authors.initials: NV
authors.lastname: Morgan
authors.forename: Louise
authors.initials: L
authors.lastname: Tee
authors.forename: Jenny
authors.initials: J
authors.lastname: Morton
authors.forename: John R
authors.initials: JR
authors.lastname: Ainsworth
authors.forename: Denise
authors.initials: D
authors.lastname: Horn
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Rosser
authors.forename: Trevor R P
authors.initials: TR
authors.lastname: Cole
authors.forename: Irene
authors.initials: I
authors.lastname: Stolte-Dijkstra
authors.forename: Karen
authors.initials: K
authors.lastname: Fieggen
authors.forename: Jill
authors.initials: J
authors.lastname: Clayton-Smith
authors.forename: André
authors.initials: A
authors.lastname: Mégarbané
authors.forename: Julian P
authors.initials: JP
authors.lastname: Shield
authors.forename: Ruth
authors.initials: R
authors.lastname: Newbury-Ecob
authors.forename: William B
authors.initials: WB
authors.lastname: Dobyns
authors.forename: John M
authors.initials: JM
authors.lastname: Graham
authors.forename: Klaus W
authors.initials: KW
authors.lastname: Kjaer
authors.forename: Mette
authors.initials: M
authors.lastname: Warburg
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Bond
authors.forename: Richard C
authors.initials: RC
authors.lastname: Trembath
authors.forename: Laura W
authors.initials: LW
authors.lastname: Harris
authors.forename: Yoshimi
authors.initials: Y
authors.lastname: Takai
authors.forename: Stefan
authors.initials: S
authors.lastname: Mundlos
authors.forename: David
authors.initials: D
authors.lastname: Tannahill
authors.forename: C Geoffery
authors.initials: CG
authors.lastname: Woods
authors.forename: Eamonn R
authors.initials: ER
authors.lastname: Maher
mesh_terms: D020134:Catalytic Domain; D002490:Central Nervous System / Q000002:abnormalities; D005124:Eye Abnormalities / Q000473:pathology; D005835:Genitalia / Q000002:abnormalities; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D013577:Syndrome; D020691:rab GTP-Binding Proteins / Q000235:genetics / Q000378:metabolism*
chemical_list: D020691:rab GTP-Binding Proteins