Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome (original) (raw)

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Acknowledgements

We thank the families who helped with this research; many colleagues, particularly E.R. Roeder and C.J. Curry, for referring affected individuals; and the UK Birth Defects Foundation, the Wellcome Trust and Birmingham Women's Hospital R&D Fund for financial support.

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Authors and Affiliations

1. Section of Medical and Molecular Genetics, University of Birmingham, Birmingham, B15 2TT, UK
   Irene A Aligianis, Colin A Johnson, Paul Gissen, Esther N Maina, Neil V Morgan, Louise Tee & Eamonn R Maher
2. West Midlands Regional Genetics Service, Birmingham Women's Hospital, Birmingham, B15 2TG, UK
   Irene A Aligianis, Jenny Morton, Trevor R P Cole & Eamonn R Maher
3. Embryo Gene Expression Patterns, The Wellcome Trust Sanger Institute, Hinxton, CB10 1SA, Cambridge, UK
   Dongrong Chen, Laura W Harris & David Tannahill
4. Molecular Medicine Unit, St. James' University Hospital, Leeds, LS9 7TF, UK
   Daniel Hampshire, Jacqueline Bond & C Geoffery Woods
5. Institute of Medical Genetics, Charité University Hospital, Humboldt University, Berlin 13353 and Max Planck Institute for Molecular Genetics, Berlin, 14195, Germany
   Katrin Hoffmann, Denise Horn & Stefan Mundlos
6. Birmingham Midlands Eye Hospital and Birmingham Childrens Hospital, Birmingham, UK
   John R Ainsworth
7. North East Thames Regional Genetics Service, Great Ormond Street Hospital, London, WC1N 1EH, UK
   Elisabeth Rosser
8. Department of Clinical Genetics, University Hospital Groningen, Groningen, 9700 RB, The Netherlands
   Irene Stolte-Dijkstra
9. Division of Human Genetics, University of Cape Town, Cape Town, 7925, South Africa
   Karen Fieggen
10. Academic Department of Medical Genetics, St Mary's Hospital, Manchester, UK
    Jill Clayton-Smith
11. Medical Genetics Unit, Faculty of Medicine, Saint Joseph University, Beirut, Lebanon
    André Mégarbané
12. University of Bristol, Bristol, UK
    Julian P Shield
13. Department of Clinical Genetics, St Michael's Hospital, Level B, Southwell Street, Bristol, BS2 8EG, UK
    Ruth Newbury-Ecob
14. Department of Human Genetics, University of Chicago, Chicago, Illinois, USA
    William B Dobyns
15. Medical Genetics Institute, Steven Spielberg Pediatric Research Center, SHARE's Child Disability Center, David Geffen School of Medicine at UCLA, Cedars-Sinai Medical Center, Los Angeles, USA
    John M Graham Jr
16. Wilhelm Johannsen Centre for Functional Genome Research, Gentofte Hospital, University of Copenhagen, Denmark
    Klaus W Kjaer
17. Division of Pediatric Ophthalmology and Handicaps, Gentofte Hospital, University of Copenhagen, Denmark
    Mette Warburg
18. Division of Medical Genetics, Departments of Medicine and Genetics, University of Leicester, Leicester, LE1 7RH, UK
    Richard C Trembath
19. Department of Molecular Biology and Biochemistry, Osaka University Graduate School of Medicine/Faculty of Medicine, Suita, 565-0871, Japan
    Yoshimi Takai

Authors

1. Irene A Aligianis
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2. Colin A Johnson
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3. Paul Gissen
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4. Dongrong Chen
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5. Daniel Hampshire
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6. Katrin Hoffmann
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7. Esther N Maina
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8. Neil V Morgan
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9. Louise Tee
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10. Jenny Morton
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11. John R Ainsworth
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12. Denise Horn
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13. Elisabeth Rosser
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14. Trevor R P Cole
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15. Irene Stolte-Dijkstra
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16. Karen Fieggen
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17. Jill Clayton-Smith
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18. André Mégarbané
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19. Julian P Shield
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20. Ruth Newbury-Ecob
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21. William B Dobyns
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22. John M Graham Jr
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23. Klaus W Kjaer
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24. Mette Warburg
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25. Jacqueline Bond
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26. Richard C Trembath
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27. Laura W Harris
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28. Yoshimi Takai
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29. Stefan Mundlos
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30. David Tannahill
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31. C Geoffery Woods
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32. Eamonn R Maher
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Corresponding author

Correspondence toEamonn R Maher.

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Competing interests

The authors declare no competing financial interests.

Supplementary information

Supplementary Fig. 1

Expression of RAB3GAP/WARBM1 (Rab3-GAP p130 catalytic subunit) mRNA in the mouse embryo as assessed by in situ hybridisation. (PDF 1491 kb)

Supplementary Table 1

Fine mapping data for the affected individuals from families K1–K5. (PDF 91 kb)

Supplementary Table 2

Primer sequences of novel microsatellite markers used for linkage analysis. (PDF 41 kb)

Supplementary Table 3

Clinical data for the Micro families in this study not previously described in the literature. (PDF 70 kb)

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Aligianis, I., Johnson, C., Gissen, P. et al. Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.Nat Genet 37, 221–224 (2005). https://doi.org/10.1038/ng1517

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• Received: 05 October 2004
• Accepted: 10 January 2005
• Published: 06 February 2005
• Issue Date: 01 March 2005
• DOI: https://doi.org/10.1038/ng1517