TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum (original) (raw)

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• 29 March 2011

In the version of this article initially published, the authors should have acknowledged that the work was also funded by a grant from the European Union (EU-SYSCILIA) to E.E.D., C.A.J., P.L.B. and N.K. The error has been corrected in the HTML and PDF versions of the article.

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Acknowledgements

We are grateful to the individuals affected with ciliopathies and their families for their continued participation and enthusiasm. We thank N. Elkhartoufi for technical assistance, P. Parvex for subject recruitment, D. Parker for critical reading of the manuscript and Yorkshire Regional Genetics Service for help in obtaining control DNA samples. This research was supported by funds from the US National Institutes of Health grant R01HD04260 from the National Institute of Child Health and Development (N.K.), R01DK072301, R01DK075972 (N.K.), R01DK068306, R01DK064614, R01DK069274 (F.H.) and National Research Service Award (NRSA) fellowship F32 DK079541 (E.E.D.) from the National Institute of Diabetes, Digestive and Kidney disorders, RO1EY12910 from the National Eye Institute (E.A.P.), the Macular Vision Research Foundation (N.K.) the Foundation Fighting Blindness (N.K., R.A.L., E.A.P. and Q.L.), the F.M. Kirby Foundation (E.A.P.), the Rosanne Silbermann Foundation (E.A.P.), the Polycystic Kidney Disease (PKD) Foundation (C.B.), German Kidney Foundation (C.B.), German Research Foundation (DFG BE 3910/5-1 and SFB/TRR57; C.B.), UNADEV, Retina France, Programme Hospitalier de Recherche Clinique 2007, L'Agence nationale de la recherche 2009 (H.D.), a Medical Research Council (MRC) research training fellowship (J.H.) and the European Union (EU-SYSCILIA; E.E.D., C.A.J., P.L.B. and N.K.). This work was also supported in part by the Intramural Research Program of the National Human Genome Research Institute. R.A.L. is a Senior Scientific Investigator of Research to Prevent Blindness, New York, New York. P.L.B. is a Wellcome Trust Senior Research Fellow. F.H. is an Investigator of the Howard Hughes Medical Institute, a Doris Duke Distinguished Clinical Scientist and the Frederick G. L. Huetwell Professor. N.K. is a Distinguished George W. Brumley Professor.

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Authors and Affiliations

1. Department of Cell Biology, Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina, USA
   Erica E Davis, Bill H Diplas, Lisa M Davey & Nicholas Katsanis
2. Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA
   Erica E Davis & Nicholas Katsanis
3. F.M. Kirby Center for Molecular Ophthalmology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
   Qi Zhang, Qin Liu & Eric A Pierce
4. Department of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Birmingham, UK
   Jane Hartley & Eamonn R Maher
5. Laboratoire de Génétique Médicale EA3949, Avenir INSERM, Université de Strasbourg, Strasbourg, France
   Corinne Stoetzel & Hélène Dollfus
6. Section of Ophthalmology and Neurosciences, Leeds Institute of Molecular Medicine, St. James's University Hospital, Leeds, UK
   Katarzyna Szymanska, Clare V Logan & Colin A Johnson
7. Department of Pediatrics, University of Michigan, Ann Arbor, Michigan, USA
   Gokul Ramaswami, Edgar A Otto & Friedhelm Hildebrandt
8. Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA
   Donna M Muzny, David A Wheeler, Margaret Morgan, Lora R Lewis & Richard A Gibbs
9. National Institutes of Health Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
   Alice C Young, Pedro Cruz, Praveen Cherukuri, Baishali Maskeri, Nancy F Hansen, James C Mullikin, Robert W Blakesley, Gerard G Bouffard & Eric D Green
10. Genoscope Centre National de Séquençage, Crémieux, Evry, France
    Gabor Gyapay
11. University Children's Hospital, Heidelberg, Germany
    Susanne Rieger & Burkhard Tönshoff
12. Department of Pediatrics, University Hospital of Geneva, Switzerland
    Ilse Kern
13. Department of Pediatrics, Kasralainy School of Medicine, Cairo University, Cairo, Egypt
    Neveen A Soliman
14. Division of Nephrology, University Children's Hospital Zurich, Zurich, Switzerland
    Thomas J Neuhaus
15. Department of Neurology, University of Utah School of Medicine, Salt Lake City, Utah, USA
    Kathryn J Swoboda
16. Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA
    Kathryn J Swoboda
17. Istanbul University, Istanbul Medical Faculty, Medical Genetics, Millet Caddesi, Capa, Fatih, Istanbul, Turkey.,
    Hulya Kayserili
18. Developmental Pediatrics, University of Hawaii at Manoa, Honolulu, Hawaii, USA
    Tomas E Gallagher
19. Department of Ophthalmology, Baylor College of Medicine, Houston, Texas, USA
    Richard A Lewis
20. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Richard A Lewis
21. Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA
    Richard A Lewis
22. Department of Medicine, Baylor College of Medicine, Houston, Texas, USA
    Richard A Lewis
23. Center for Human Genetics, Bioscientia, Ingelheim, Germany.,
    Carsten Bergmann
24. Department of Human Genetics, Rheinisch-Westfälische Technische Hochschule (RWTH) University of Aachen, Aachen, Germany
    Carsten Bergmann
25. Inserm U-983, Hôpital Necker-Enfants Malades, Université Paris Descartes, Paris, France
    Sophie Saunier
26. Molecular Medicine Unit, Institute of Child Health, University College London, London, UK
    Peter J Scambler & Philip L Beales
27. Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, California, USA.,
    Joseph G Gleeson
28. Département de Génétique et INSERM U-781, Hôpital Necker-Enfants Malades, Université Paris Descartes, Paris, France
    Tania Attié-Bitach
29. Howard Hughes Medical Institute and Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA
    Friedhelm Hildebrandt
30. Wilmer Eye Institute and Department of Molecular Biology and Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    Nicholas Katsanis

Authors

1. Erica E Davis
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2. Qi Zhang
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3. Qin Liu
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4. Bill H Diplas
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5. Lisa M Davey
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6. Jane Hartley
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7. Corinne Stoetzel
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8. Katarzyna Szymanska
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9. Gokul Ramaswami
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10. Clare V Logan
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11. Donna M Muzny
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12. Alice C Young
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13. David A Wheeler
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14. Pedro Cruz
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15. Margaret Morgan
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16. Lora R Lewis
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17. Praveen Cherukuri
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18. Baishali Maskeri
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19. Nancy F Hansen
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20. James C Mullikin
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21. Robert W Blakesley
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22. Gerard G Bouffard
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23. Gabor Gyapay
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24. Susanne Rieger
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25. Burkhard Tönshoff
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26. Ilse Kern
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27. Neveen A Soliman
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28. Thomas J Neuhaus
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29. Kathryn J Swoboda
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30. Hulya Kayserili
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31. Tomas E Gallagher
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32. Richard A Lewis
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33. Carsten Bergmann
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34. Edgar A Otto
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35. Sophie Saunier
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36. Peter J Scambler
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37. Philip L Beales
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38. Joseph G Gleeson
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39. Eamonn R Maher
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40. Tania Attié-Bitach
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41. Hélène Dollfus
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42. Colin A Johnson
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43. Eric D Green
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44. Richard A Gibbs
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45. Friedhelm Hildebrandt
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46. Eric A Pierce
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47. Nicholas Katsanis
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Consortia

NISC Comparative Sequencing Program

Contributions

Experiments were designed by E.E.D., E.A.P. and N.K. Mutational screening, analysis and confirmation was conducted by E.E.D., J.H., C.S., K.S., G.R., C.V.L., D.M.M., A.C.Y., D.A.W., P. Cruz., M.M., L.R.L., P. Cherukuri., B.M., N.F.H., J.C.M., R.W.B., G.G.B., the NISC Comparative Sequencing Program, G.G., E.A.O., J.G.G., T.A.-B., C.A.J., E.D.G. and R.A.G. Ciliopathy case samples were provided by J.H., S.R., B.T., I.K., N.A.S., T.J.N., K.J.S., H.K., T.E.G., R.A.L., C.B., S.S., P.J.S., P.L.B., J.G.G., E.R.M., T.A.-B., H.D., C.A.J., F.H. and N.K. In vivo and in vitro functional studies were carried out by E.E.D., Q.Z., Q.L., B.H.D. and L.M.D. The manuscript was written by E.E.D., Q.Z., E.A.P. and N.K. with helpful comments from C.B., J.G.G., E.R.M., T.A.-B., C.A.J. and F.H.

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Correspondence toNicholas Katsanis.

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The authors declare no competing financial interests.

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Davis, E., Zhang, Q., Liu, Q. et al. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.Nat Genet 43, 189–196 (2011). https://doi.org/10.1038/ng.756

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• Received: 15 November 2010
• Accepted: 22 December 2010
• Published: 23 January 2011
• Issue Date: March 2011
• DOI: https://doi.org/10.1038/ng.756