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Research Article

Mutations in SLC29A3, Encoding an Equilibrative Nucleoside Transporter ENT3, Cause a Familial Histiocytosis Syndrome (Faisalabad Histiocytosis) and Familial Rosai-Dorfman Disease

  • Neil V. Morgan,

    Affiliation: Wellchild Paediatric Research Centre and Department of Medical and Molecular Genetics, University of Birmingham College of Medical and Dental Sciences, Edgbaston, Birmingham, United Kingdom

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  • Mark R. Morris,

    Affiliations: Wellchild Paediatric Research Centre and Department of Medical and Molecular Genetics, University of Birmingham College of Medical and Dental Sciences, Edgbaston, Birmingham, United Kingdom, Cancer Research UK Renal Molecular Oncology Group, Department of Medical and Molecular Genetics, University of Birmingham College of Medical and Dental Sciences, Edgbaston, Birmingham, United Kingdom

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  • Hakan Cangul,

    Affiliations: Wellchild Paediatric Research Centre and Department of Medical and Molecular Genetics, University of Birmingham College of Medical and Dental Sciences, Edgbaston, Birmingham, United Kingdom, Department of Medical Genetics, Uludag University School of Medicine, Bursa, Turkey

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  • Diane Gleeson,

    Affiliation: The Wellcome Trust Sanger Institute, Cambridge, United Kingdom

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  • Anna Straatman-Iwanowska,

    Affiliation: Wellchild Paediatric Research Centre and Department of Medical and Molecular Genetics, University of Birmingham College of Medical and Dental Sciences, Edgbaston, Birmingham, United Kingdom

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  • Nicholas Davies,

    Affiliation: School of Biosciences, University of Birmingham School of Medicine, Birmingham, United Kingdom

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  • Stephen Keenan,

    Affiliations: The Wellcome Trust Sanger Institute, Cambridge, United Kingdom, European Bioinformatics Institute, Cambridge, United Kingdom

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  • Shanaz Pasha,

    Affiliation: Wellchild Paediatric Research Centre and Department of Medical and Molecular Genetics, University of Birmingham College of Medical and Dental Sciences, Edgbaston, Birmingham, United Kingdom

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  • Fatimah Rahman,

    Affiliation: Wellchild Paediatric Research Centre and Department of Medical and Molecular Genetics, University of Birmingham College of Medical and Dental Sciences, Edgbaston, Birmingham, United Kingdom

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  • Dean Gentle,

    Affiliations: Wellchild Paediatric Research Centre and Department of Medical and Molecular Genetics, University of Birmingham College of Medical and Dental Sciences, Edgbaston, Birmingham, United Kingdom, Cancer Research UK Renal Molecular Oncology Group, Department of Medical and Molecular Genetics, University of Birmingham College of Medical and Dental Sciences, Edgbaston, Birmingham, United Kingdom

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  • Maaike P. G. Vreeswijk,

    Affiliation: Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands

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  • Peter Devilee,

    Affiliations: Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands, Clinical Genetics and the Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands

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  • Margaret A. Knowles,

    Affiliation: Cancer Research UK Clinical Centre, Leeds Institute for Molecular Medicine, St James's University Hospital, Leeds, United Kingdom

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  • Serdar Ceylaner,

    Affiliation: Medical Genetics Intergen Genetics Centre, Ankara, Turkey

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  • Richard C. Trembath,

    Affiliation: Department of Medical and Molecular Genetics, King's College London School of Medicine, Guy's Hospital, London, United Kingdom

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  • Carlos Dalence,

    Affiliation: Division of Paediatric Haematology/Oncology, St. Joseph Children's Hospital, Tampa, Florida, United States of America

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  • Erol Kismet,

    Affiliation: Department of Pediatric Oncology, Gulhane Military Medical Academy, Ankara, Turkey

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  • Vedat Köseoğlu,

    Affiliation: Department of Pediatric Oncology, Gulhane Military Medical Academy, Ankara, Turkey

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  • Hans-Christoph Rossbach,

    Affiliation: Division of Paediatric Haematology/Oncology, St. Joseph Children's Hospital, Tampa, Florida, United States of America

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  • Paul Gissen,

    Affiliation: Wellchild Paediatric Research Centre and Department of Medical and Molecular Genetics, University of Birmingham College of Medical and Dental Sciences, Edgbaston, Birmingham, United Kingdom

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  • David Tannahill,

    Affiliations: The Wellcome Trust Sanger Institute, Cambridge, United Kingdom, Cranfield Health, Cranfield University, Bedford, United Kingdom

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  • Eamonn R. Maher mail

    e.r.maher@bham.ac.uk

    Affiliations: Wellchild Paediatric Research Centre and Department of Medical and Molecular Genetics, University of Birmingham College of Medical and Dental Sciences, Edgbaston, Birmingham, United Kingdom, Cancer Research UK Renal Molecular Oncology Group, Department of Medical and Molecular Genetics, University of Birmingham College of Medical and Dental Sciences, Edgbaston, Birmingham, United Kingdom, West Midlands Region Genetics Service, Birmingham Women's Hospital, Edgbaston, United Kingdom

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  • Published: February 05, 2010
  • DOI: 10.1371/journal.pgen.1000833

About the Authors

Neil V. Morgan, Mark R. Morris, Hakan Cangul, Anna Straatman-Iwanowska, Shanaz Pasha, Fatimah Rahman, Dean Gentle, Paul Gissen, Eamonn R. Maher
Wellchild Paediatric Research Centre and Department of Medical and Molecular Genetics, University of Birmingham College of Medical and Dental Sciences, Edgbaston, Birmingham, United Kingdom
Mark R. Morris, Dean Gentle, Eamonn R. Maher
Cancer Research UK Renal Molecular Oncology Group, Department of Medical and Molecular Genetics, University of Birmingham College of Medical and Dental Sciences, Edgbaston, Birmingham, United Kingdom
Hakan Cangul
Department of Medical Genetics, Uludag University School of Medicine, Bursa, Turkey
Diane Gleeson, Stephen Keenan, David Tannahill
The Wellcome Trust Sanger Institute, Cambridge, United Kingdom
Nicholas Davies
School of Biosciences, University of Birmingham School of Medicine, Birmingham, United Kingdom
Stephen Keenan
European Bioinformatics Institute, Cambridge, United Kingdom
Maaike P. G. Vreeswijk, Peter Devilee
Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
Peter Devilee
Clinical Genetics and the Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands
Margaret A. Knowles
Cancer Research UK Clinical Centre, Leeds Institute for Molecular Medicine, St James's University Hospital, Leeds, United Kingdom
Serdar Ceylaner
Medical Genetics Intergen Genetics Centre, Ankara, Turkey
Richard C. Trembath
Department of Medical and Molecular Genetics, King's College London School of Medicine, Guy's Hospital, London, United Kingdom
Carlos Dalence, Hans-Christoph Rossbach
Division of Paediatric Haematology/Oncology, St. Joseph Children's Hospital, Tampa, Florida, United States of America
Erol Kismet, Vedat Köseoğlu
Department of Pediatric Oncology, Gulhane Military Medical Academy, Ankara, Turkey
David Tannahill
Cranfield Health, Cranfield University, Bedford, United Kingdom
Eamonn R. Maher
West Midlands Region Genetics Service, Birmingham Women's Hospital, Edgbaston, United Kingdom

Corresponding Author

Email: e.r.maher@bham.ac.uk

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: NVM MRM DT ERM. Performed the experiments: NVM MRM HC DG ASI ND SK SP FR DG PG. Analyzed the data: NVM MRM HC DG ASI ND SK FR DG PG DT ERM. Contributed reagents/materials/analysis tools: MPGV PD MAK SC RCT CD EK VK HCR. Wrote the paper: NVM DT ERM.