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Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome |
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| Authors: | Aligianis Irene A Johnson Colin A Gissen Paul Chen Dongrong Hampshire Daniel Hoffmann Katrin Maina Esther N Morgan Neil V Tee Louise Morton Jenny Ainsworth John R Horn Denise Rosser Elisabeth Cole Trevor R P Stolte-Dijkstra Irene Fieggen Karen Clayton-Smith Jill Mégarbané André Shield Julian P Newbury-Ecob Ruth Dobyns William B Graham John M Kjaer Klaus W Warburg Mette Bond Jacqueline Trembath Richard C Harris Laura W Takai Yoshimi Mundlos Stefan Tannahill David Woods C Geoffery Maher Eamonn R |
| Institution: | Section of Medical and Molecular Genetics, University of Birmingham, Birmingham, B15 2TT, UK. |
| 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. |
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