TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Miriam Schmidts, Yuqing Hou, Claudio R. Cortés, Dorus A. Mans, Celine Huber, Karsten Boldt, Mitali Patel, Jeroen van Reeuwijk, Jean-Marc Plaza, Sylvia E. C. van Beersum, Zhi Min Yap, Stef J. F. Letteboer, S. Paige Taylor, Warren Herridge, Colin A. Johnson, Peter J. Scambler, Marius Ueffing, Hulya Kayserili, Deborah Krakow, Stephen M. King, Philip L. Beales, Lihadh Al-Gazali, Carol Wicking, Valerie Cormier-Daire, Ronald Roepman, Hannah M. Mitchison () and George B. Witman
Additional contact information
Miriam Schmidts: Genetics and Genomic Medicine Programme, University College London (UCL), Institute of Child Health
Yuqing Hou: University of Massachusetts Medical School
Claudio R. Cortés: Institute for Molecular Bioscience, The University of Queensland
Dorus A. Mans: Radboud University Medical Center
Celine Huber: INSERM UMR_1163, Institut Imagine, Université Paris Descartes Sorbonne Paris Cité, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris
Karsten Boldt: Center of Ophthalmology, University of Tübingen
Mitali Patel: Genetics and Genomic Medicine Programme, University College London (UCL), Institute of Child Health
Jeroen van Reeuwijk: Radboud University Medical Center
Jean-Marc Plaza: Plateforme de Bioinformatique, Institut Imagine, Université Paris Descartes
Sylvia E. C. van Beersum: Radboud University Medical Center
Zhi Min Yap: Genetics and Genomic Medicine Programme, University College London (UCL), Institute of Child Health
Stef J. F. Letteboer: Radboud University Medical Center
S. Paige Taylor: David Geffen School of Medicine at UCLA
Warren Herridge: Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds
Colin A. Johnson: Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds
Peter J. Scambler: Developmental Biology and Cancer Programme, University College London (UCL), Institute of Child Health
Marius Ueffing: Center of Ophthalmology, University of Tübingen
Hulya Kayserili: Istanbul Medical Faculty, Istanbul University
Deborah Krakow: David Geffen School of Medicine at UCLA
Stephen M. King: University of Connecticut Health Center
Philip L. Beales: Genetics and Genomic Medicine Programme, University College London (UCL), Institute of Child Health
Lihadh Al-Gazali: College of Medicine and Health Sciences, United Arab Emirates University
Carol Wicking: Institute for Molecular Bioscience, The University of Queensland
Valerie Cormier-Daire: INSERM UMR_1163, Institut Imagine, Université Paris Descartes Sorbonne Paris Cité, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris
Ronald Roepman: Radboud University Medical Center
Hannah M. Mitchison: Genetics and Genomic Medicine Programme, University College London (UCL), Institute of Child Health
George B. Witman: University of Massachusetts Medical School

Nature Communications, 2015, vol. 6, issue 1, 1-14

Abstract: Abstract The analysis of individuals with ciliary chondrodysplasias can shed light on sensitive mechanisms controlling ciliogenesis and cell signalling that are essential to embryonic development and survival. Here we identify TCTEX1D2 mutations causing Jeune asphyxiating thoracic dystrophy with partially penetrant inheritance. Loss of TCTEX1D2 impairs retrograde intraflagellar transport (IFT) in humans and the protist Chlamydomonas, accompanied by destabilization of the retrograde IFT dynein motor. We thus define TCTEX1D2 as an integral component of the evolutionarily conserved retrograde IFT machinery. In complex with several IFT dynein light chains, it is required for correct vertebrate skeletal formation but may be functionally redundant under certain conditions.

Date: 2015
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DOI: 10.1038/ncomms8074

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