KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2011-05-08

AUTHORS

Audrey Putoux, Sophie Thomas, Karlien L M Coene, Erica E Davis, Yasemin Alanay, Gönül Ogur, Elif Uz, Daniela Buzas, Céline Gomes, Sophie Patrier, Christopher L Bennett, Nadia Elkhartoufi, Marie-Hélène Saint Frison, Luc Rigonnot, Nicole Joyé, Solenn Pruvost, Gulen Eda Utine, Koray Boduroglu, Patrick Nitschke, Laura Fertitta, Christel Thauvin-Robinet, Arnold Munnich, Valérie Cormier-Daire, Raoul Hennekam, Estelle Colin, Nurten Ayse Akarsu, Christine Bole-Feysot, Nicolas Cagnard, Alain Schmitt, Nicolas Goudin, Stanislas Lyonnet, Férechté Encha-Razavi, Jean-Pierre Siffroi, Mark Winey, Nicholas Katsanis, Marie Gonzales, Michel Vekemans, Philip L Beales, Tania Attié-Bitach

ABSTRACT

Tania Attié-Bitach and colleagues report that biallelic mutations in KIF7, a component of the Hedgehog signaling pathway, cause hydrolethalus and acrocallosal syndromes. They also present evidence that heterozygous KIF7 mutations contribute to the allelic load and phenotypic spectrum of other cilia disorders.

PAGES

601-606

Journal

TITLE

Nature Genetics

ISSUE

6

VOLUME

43

Author Affiliations

  • Université René Descartes, Paris, France
  • Department of Human Genetics and Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
  • Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA
  • Department of Pediatrics, Pediatric Genetics Unit, Hacettepe University Medical Faculty, Ankara, Turkey
  • Department of Medical/Pediatric Genetics, Ondokuz Mayis University, Samsun, Turkey
  • Department of Medical Genetics, Gene Mapping Laboratory, Hacettepe University Medical Faculty, Ankara, Turkey
  • Service de Gynécologie-Obstétrique, Centre Hospitalier (CH) Sud Francilien, Evry, France
  • INSERM U-781, Hôpital Necker-Enfants Malades, Paris, France
  • Service de Génétique et d'Embryologie Médicales, Hôpital Armand Trousseau, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France
  • Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France
  • Service d'Anatomie et Cytologie Pathologiques, CH Victor Dupouy, Argenteuil, France
  • Université Pierre et Marie Curie, Paris, France
  • Genomic Core Facility, Imagine Fondation, Hôpital Necker-Enfants Malades, Paris, France
  • Service de Bioinformatique, Université Paris Descartes, Paris, France
  • Service de Génétique, CHU de Dijon, Dijon, France
  • Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
  • Service de Génétique, Hôpital d'Angers, Angers, France
  • CNRS UMR 8104, Institut Cochin, Université Paris Descartes, Paris, France
  • IFR 94, Faculté de Médecine Necker, Paris, France
  • Molecular, Cellular and Developmental Biology, University of Colorado at Boulder, Boulder, Colorado, USA
  • Department of Cell Biology, Duke University Medical Center, Durham, North Carolina, USA
  • Molecular Medicine Unit, University College London (UCL) Institute of Child Health, London, UK
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ng.826

    DOI

    http://dx.doi.org/10.1038/ng.826

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1020365937

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/21552264


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