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Research Article

Heterozygous Mutations of FREM1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice

  • Lisenka E. L. M. Vissers equal contributor,

    equal contributor Contributed equally to this work with: Lisenka E. L. M. Vissers, Timothy C. Cox, A. Murat Maga

    Affiliation: Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

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  • Timothy C. Cox equal contributor,

    equal contributor Contributed equally to this work with: Lisenka E. L. M. Vissers, Timothy C. Cox, A. Murat Maga

    Affiliations: Division of Craniofacial Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, United States of America, Department of Anatomy and Developmental Biology, Monash University, Clayton, Australia

    X
  • A. Murat Maga equal contributor,

    equal contributor Contributed equally to this work with: Lisenka E. L. M. Vissers, Timothy C. Cox, A. Murat Maga

    Affiliation: Division of Craniofacial Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, United States of America

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  • Kieran M. Short,

    Affiliation: Department of Biochemistry and Molecular Biology, Monash University, Clayton, Australia

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  • Fenny Wiradjaja,

    Affiliation: Department of Biochemistry and Molecular Biology, Monash University, Clayton, Australia

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  • Irene M. Janssen,

    Affiliation: Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

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  • Fernanda Jehee,

    Affiliation: Centro de Estudos do Genoma Humano, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brasil

    X
  • Debora Bertola,

    Affiliation: Centro de Estudos do Genoma Humano, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brasil

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  • Jia Liu,

    Affiliation: Section of Genetics, Department of Pediatrics, University of California Davis, Sacramento, California, United States of America

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  • Garima Yagnik,

    Affiliation: Section of Genetics, Department of Pediatrics, University of California Davis, Sacramento, California, United States of America

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  • Kiyotoshi Sekiguchi,

    Affiliation: Institute for Protein Research, Osaka University, Osaka, Japan

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  • Daiji Kiyozumi,

    Affiliation: Institute for Protein Research, Osaka University, Osaka, Japan

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  • Hans van Bokhoven,

    Affiliations: Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands, Donders Institute for Brain, Imaging, and Cognition, Nijmegen, The Netherlands

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  • Carlo Marcelis,

    Affiliation: Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

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  • Michael L. Cunningham,

    Affiliation: Division of Craniofacial Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, United States of America

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  • Peter J. Anderson,

    Affiliation: Australian Craniofacial Unit, Women and Children's Hospital, Adelaide, Australia

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  • Simeon A. Boyadjiev,

    Affiliation: Section of Genetics, Department of Pediatrics, University of California Davis, Sacramento, California, United States of America

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  • Maria Rita Passos-Bueno,

    Affiliation: Centro de Estudos do Genoma Humano, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brasil

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  • Joris A. Veltman,

    Affiliation: Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

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  • Ian Smyth,

    Affiliations: Department of Anatomy and Developmental Biology, Monash University, Clayton, Australia, Department of Biochemistry and Molecular Biology, Monash University, Clayton, Australia

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  • Michael F. Buckley,

    Affiliations: Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands, Department of Haematology and Genetics, South-Eastern Area Laboratory Services, Prince of Wales and Sydney Children's Hospitals, Randwick, Australia

    X
  • Tony Roscioli mail

    t.roscioli@antrg.umcn.nl

    Affiliations: Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands, Sydney South West Genetic Service, Royal Prince Alfred Hospital, Sydney University, Sydney, Australia

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  • Published: September 08, 2011
  • DOI: 10.1371/journal.pgen.1002278

About the Authors

Lisenka E. L. M. Vissers, Irene M. Janssen, Hans van Bokhoven, Carlo Marcelis, Joris A. Veltman, Michael F. Buckley, Tony Roscioli
Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Timothy C. Cox, A. Murat Maga, Michael L. Cunningham
Division of Craniofacial Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, United States of America
Timothy C. Cox, Ian Smyth
Department of Anatomy and Developmental Biology, Monash University, Clayton, Australia
Kieran M. Short, Fenny Wiradjaja, Ian Smyth
Department of Biochemistry and Molecular Biology, Monash University, Clayton, Australia
Fernanda Jehee, Debora Bertola, Maria Rita Passos-Bueno
Centro de Estudos do Genoma Humano, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brasil
Jia Liu, Garima Yagnik, Simeon A. Boyadjiev
Section of Genetics, Department of Pediatrics, University of California Davis, Sacramento, California, United States of America
Kiyotoshi Sekiguchi, Daiji Kiyozumi
Institute for Protein Research, Osaka University, Osaka, Japan
Hans van Bokhoven
Donders Institute for Brain, Imaging, and Cognition, Nijmegen, The Netherlands
Peter J. Anderson
Australian Craniofacial Unit, Women and Children's Hospital, Adelaide, Australia
Michael F. Buckley
Department of Haematology and Genetics, South-Eastern Area Laboratory Services, Prince of Wales and Sydney Children's Hospitals, Randwick, Australia
Tony Roscioli
Sydney South West Genetic Service, Royal Prince Alfred Hospital, Sydney University, Sydney, Australia

Corresponding Author

Email: t.roscioli@antrg.umcn.nl

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: TR MFB JAV TCC IS SAB MLC LELMV. Performed the experiments: LELMV AMM IMJ KS FW JL GY. Analyzed the data: TR MFB TCC IS HvB. Contributed reagents/materials/analysis tools: FJ DB MRP-B MLC SAB CM PJA KMS DK. Wrote the paper: TR LELMV MFB TCC IS.