Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans
Identifieur interne : 004757 ( Main/Exploration ); précédent : 004756; suivant : 004758Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans
Auteurs : Jan Halbritter [États-Unis] ; Albane A. Bizet [France] ; Miriam Schmidts [Royaume-Uni] ; Jonathan D. Porath [États-Unis] ; Daniela A. Braun [États-Unis] ; Heon Yung Gee [États-Unis] ; Aideen M. Mcinerney-Leo [Australie] ; Pauline Krug [France] ; Emilie Filhol [France] ; Erica E. Davis [États-Unis] ; Rannar Airik [États-Unis] ; Peter G. Czarnecki [États-Unis] ; Anna M. Lehman [Canada] ; Peter Trnka [Australie] ; Patrick Nitschké [France] ; Christine Bole-Feysot [France] ; Markus Schueler [États-Unis] ; Bertrand Knebelmann [France] ; Stéphane Burtey [France] ; Attila J. Szab [Hongrie] ; Kálmán Tory [France, Hongrie] ; Paul J. Leo [Australie] ; Brooke Gardiner [Australie] ; Fiona A. Mckenzie [Australie] ; Andreas Zankl [Australie] ; Matthew A. Brown [Australie] ; Jane L. Hartley [Royaume-Uni] ; Eamonn R. Maher [Royaume-Uni] ; Chunmei Li [Canada] ; Michel R. Leroux [Canada] ; Peter J. Scambler [Royaume-Uni] ; Shing H. Zhan [Canada] ; Steven J. Jones [Canada] ; Hülya Kayserili [Turquie] ; Beyhan Tuysuz [Turquie] ; Khemchand N. Moorani [Pakistan] ; Alexandru Constantinescu [États-Unis] ; Ian D. Krantz [États-Unis] ; Bernard S. Kaplan [États-Unis] ; Jagesh V. Shah [États-Unis] ; Toby W. Hurd [États-Unis] ; Dan Doherty [États-Unis] ; Nicholas Katsanis [États-Unis] ; Emma L. Duncan [Australie] ; Edgar A. Otto [États-Unis] ; Philip L. Beales [Royaume-Uni] ; Hannah M. Mitchison [Royaume-Uni] ; Sophie Saunier [France] ; Friedhelm Hildebrandt [États-Unis]Source :
- American Journal of Human Genetics [ 0002-9297 ] ; 2013.
Abstract
Intraflagellar transport (IFT) depends on two evolutionarily conserved modules, subcomplexes A (IFT-A) and B (IFT-B), to drive ciliary assembly and maintenance. All six IFT-A components and their motor protein, DYNC2H1, have been linked to human skeletal ciliopathies, including asphyxiating thoracic dystrophy (ATD; also known as Jeune syndrome), Sensenbrenner syndrome, and Mainzer-Saldino syndrome (MZSDS). Conversely, the 14 subunits in the IFT-B module, with the exception of IFT80, have unknown roles in human disease. To identify additional IFT-B components defective in ciliopathies, we independently performed different mutation analyses: candidate-based sequencing of all IFT-B-encoding genes in 1,467 individuals with a nephronophthisis-related ciliopathy or whole-exome resequencing in 63 individuals with ATD. We thereby detected biallelic mutations in the IFT-B-encoding gene
Url:
DOI: 10.1016/j.ajhg.2013.09.012
PubMed: 24140113
PubMed Central: 3824130
Affiliations:
- Australie, Canada, France, Hongrie, Pakistan, Royaume-Uni, Turquie, États-Unis
- Angleterre, Angleterre de l'Est, Caroline du Nord, Floride, Hongrie centrale, Massachusetts, Michigan, Midlands de l'Ouest, Nouvelle-Galles du Sud, Pennsylvanie, Provence-Alpes-Côte d'Azur, Washington (État), Île-de-France
- Birmingham, Budapest, Cambridge, Paris, Seattle, Sydney
- Université de Birmingham, Université de Cambridge, Université de Sydney, Université de Washington
Links toward previous steps (curation, corpus...)
- to stream Pmc, to step Corpus: 001206
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- to stream Pmc, to step Checkpoint: 001B80
- to stream Ncbi, to step Merge: 001526
- to stream Ncbi, to step Curation: 001526
- to stream Ncbi, to step Checkpoint: 001526
- to stream Main, to step Merge: 004873
- to stream Main, to step Curation: 004757
Le document en format XML
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Department of Pediatrics, Semmelweis University, 1083 Budapest, Hungary</nlm:aff>
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Department of Pediatrics, Semmelweis University, 1083 Budapest, Hungary</nlm:aff>
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<author><name sortKey="Leo, Paul J" sort="Leo, Paul J" uniqKey="Leo P" first="Paul J." last="Leo">Paul J. Leo</name>
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<author><name sortKey="Zankl, Andreas" sort="Zankl, Andreas" uniqKey="Zankl A" first="Andreas" last="Zankl">Andreas Zankl</name>
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<affiliation wicri:level="1"><nlm:aff id="aff19">UQ Centre for Clinical Research, The University of Queensland, Herston, QLD 4029, Australia</nlm:aff>
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<affiliation wicri:level="4"><nlm:aff id="aff20">Genetic Medicine, The University of Sydney, Sydney, NSW 2006, Australia</nlm:aff>
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<wicri:regionArea>Genetic Medicine, The University of Sydney, Sydney, NSW 2006</wicri:regionArea>
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<affiliation wicri:level="1"><nlm:aff id="aff21">Academic Department of Medical Genetics, The Children’s Hospital at Westmead, Sydney, NSW 2145, Australia</nlm:aff>
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<author><name sortKey="Brown, Matthew A" sort="Brown, Matthew A" uniqKey="Brown M" first="Matthew A." last="Brown">Matthew A. Brown</name>
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<author><name sortKey="Hartley, Jane L" sort="Hartley, Jane L" uniqKey="Hartley J" first="Jane L." last="Hartley">Jane L. Hartley</name>
<affiliation wicri:level="1"><nlm:aff id="aff22">Birmingham Children’s Hospital, Birmingham B4 6NH, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Birmingham Children’s Hospital, Birmingham B4 6NH</wicri:regionArea>
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<author><name sortKey="Maher, Eamonn R" sort="Maher, Eamonn R" uniqKey="Maher E" first="Eamonn R." last="Maher">Eamonn R. Maher</name>
<affiliation wicri:level="4"><nlm:aff id="aff23">Centre for Rare Diseases and Personalised Medicine, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Centre for Rare Diseases and Personalised Medicine, University of Birmingham, Edgbaston, Birmingham B15 2TT</wicri:regionArea>
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</placeName>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="aff24">Department of Medical Genetics, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Medical Genetics, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0QQ</wicri:regionArea>
<orgName type="university">Université de Cambridge</orgName>
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<region type="country">Angleterre</region>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Li, Chunmei" sort="Li, Chunmei" uniqKey="Li C" first="Chunmei" last="Li">Chunmei Li</name>
<affiliation wicri:level="1"><nlm:aff id="aff25">Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, BC V5A 1S6, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, BC V5A 1S6</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Leroux, Michel R" sort="Leroux, Michel R" uniqKey="Leroux M" first="Michel R." last="Leroux">Michel R. Leroux</name>
<affiliation wicri:level="1"><nlm:aff id="aff25">Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, BC V5A 1S6, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, BC V5A 1S6</wicri:regionArea>
<wicri:noRegion>BC V5A 1S6</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Scambler, Peter J" sort="Scambler, Peter J" uniqKey="Scambler P" first="Peter J." last="Scambler">Peter J. Scambler</name>
<affiliation wicri:level="1"><nlm:aff id="aff4">Molecular Medicine Unit and Birth Defects Research Centre, University College London Institute of Child Health, London, WC1N 1EH, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Molecular Medicine Unit and Birth Defects Research Centre, University College London Institute of Child Health, London, WC1N 1EH</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Zhan, Shing H" sort="Zhan, Shing H" uniqKey="Zhan S" first="Shing H." last="Zhan">Shing H. Zhan</name>
<affiliation wicri:level="1"><nlm:aff id="aff26">Genome Sciences Centre, British Columbia Cancer Agency, Vancouver, BC V5Z 4S6, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Genome Sciences Centre, British Columbia Cancer Agency, Vancouver, BC V5Z 4S6</wicri:regionArea>
<wicri:noRegion>BC V5Z 4S6</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Jones, Steven J" sort="Jones, Steven J" uniqKey="Jones S" first="Steven J." last="Jones">Steven J. Jones</name>
<affiliation wicri:level="1"><nlm:aff id="aff10">Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1</wicri:regionArea>
<wicri:noRegion>BC V6H 3N1</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff26">Genome Sciences Centre, British Columbia Cancer Agency, Vancouver, BC V5Z 4S6, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Genome Sciences Centre, British Columbia Cancer Agency, Vancouver, BC V5Z 4S6</wicri:regionArea>
<wicri:noRegion>BC V5Z 4S6</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kayserili, Hulya" sort="Kayserili, Hulya" uniqKey="Kayserili H" first="Hülya" last="Kayserili">Hülya Kayserili</name>
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<wicri:regionArea>Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Istanbul 34093</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Tuysuz, Beyhan" sort="Tuysuz, Beyhan" uniqKey="Tuysuz B" first="Beyhan" last="Tuysuz">Beyhan Tuysuz</name>
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<wicri:regionArea>Division of Pediatric Genetics, Department of Pediatrics, Cerrahpasa Medical School, Istanbul University, Istanbul 34098</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Moorani, Khemchand N" sort="Moorani, Khemchand N" uniqKey="Moorani K" first="Khemchand N." last="Moorani">Khemchand N. Moorani</name>
<affiliation wicri:level="1"><nlm:aff id="aff29">Department of Paediatric Nephrology, National Institute of Child Health, Karachi 75510, Pakistan</nlm:aff>
<country xml:lang="fr">Pakistan</country>
<wicri:regionArea>Department of Paediatric Nephrology, National Institute of Child Health, Karachi 75510</wicri:regionArea>
<wicri:noRegion>Karachi 75510</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Constantinescu, Alexandru" sort="Constantinescu, Alexandru" uniqKey="Constantinescu A" first="Alexandru" last="Constantinescu">Alexandru Constantinescu</name>
<affiliation wicri:level="2"><nlm:aff id="aff30">Division of Pediatric Nephrology, Joe DiMaggio Children’s Hospital, Hollywood, FL 33021, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Pediatric Nephrology, Joe DiMaggio Children’s Hospital, Hollywood, FL 33021</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Krantz, Ian D" sort="Krantz, Ian D" uniqKey="Krantz I" first="Ian D." last="Krantz">Ian D. Krantz</name>
<affiliation wicri:level="2"><nlm:aff id="aff31">Division of Human Genetics, The Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Human Genetics, The Children’s Hospital of Philadelphia, Philadelphia, PA 19104</wicri:regionArea>
<placeName><region type="state">Pennsylvanie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Kaplan, Bernard S" sort="Kaplan, Bernard S" uniqKey="Kaplan B" first="Bernard S." last="Kaplan">Bernard S. Kaplan</name>
<affiliation wicri:level="2"><nlm:aff id="aff32">Division of Nephrology, The Children’s Hospital of Philadelphia, Philadelphia, PA 19104-4399, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Nephrology, The Children’s Hospital of Philadelphia, Philadelphia, PA 19104-4399</wicri:regionArea>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Shah, Jagesh V" sort="Shah, Jagesh V" uniqKey="Shah J" first="Jagesh V." last="Shah">Jagesh V. Shah</name>
<affiliation wicri:level="2"><nlm:aff id="aff7">Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Systems Biology, Harvard Medical School, Boston, MA 02115</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="aff9">Harvard-MIT Health Sciences and Technology, Boston, MA 02139, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Harvard-MIT Health Sciences and Technology, Boston, MA 02139</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="aff33">Renal Medicine, Brigham and Women’s Hospital, Boston, MA 02215, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Renal Medicine, Brigham and Women’s Hospital, Boston, MA 02215</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hurd, Toby W" sort="Hurd, Toby W" uniqKey="Hurd T" first="Toby W." last="Hurd">Toby W. Hurd</name>
<affiliation wicri:level="2"><nlm:aff id="aff34">Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109</wicri:regionArea>
<placeName><region type="state">Michigan</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Doherty, Dan" sort="Doherty, Dan" uniqKey="Doherty D" first="Dan" last="Doherty">Dan Doherty</name>
<affiliation wicri:level="4"><nlm:aff id="aff35">Department of Pediatrics, University of Washington, Seattle, WA 98195-6320, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, University of Washington, Seattle, WA 98195-6320</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
</author>
<author><name sortKey="Katsanis, Nicholas" sort="Katsanis, Nicholas" uniqKey="Katsanis N" first="Nicholas" last="Katsanis">Nicholas Katsanis</name>
<affiliation wicri:level="2"><nlm:aff id="aff6">Center for Human Disease Modeling, Duke University, Durham, NC 27710, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Center for Human Disease Modeling, Duke University, Durham, NC 27710</wicri:regionArea>
<placeName><region type="state">Caroline du Nord</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Duncan, Emma L" sort="Duncan, Emma L" uniqKey="Duncan E" first="Emma L." last="Duncan">Emma L. Duncan</name>
<affiliation wicri:level="1"><nlm:aff id="aff5">Translational Research Institute, The University of Queensland Diamantina Institute, Level 7, 37 Kent Street, Woolloongabba, QLD 4102, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Translational Research Institute, The University of Queensland Diamantina Institute, Level 7, 37 Kent Street, Woolloongabba, QLD 4102</wicri:regionArea>
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</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff18">School of Paediatrics and Child Health, The University of Western Australia, Crawley, WA 6009, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>School of Paediatrics and Child Health, The University of Western Australia, Crawley, WA 6009</wicri:regionArea>
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</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff36">Department of Endocrinology, Royal Brisbane and Women’s Hospital, James Mayne Building, Butterfield Road, Herston, QLD 4029, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Endocrinology, Royal Brisbane and Women’s Hospital, James Mayne Building, Butterfield Road, Herston, QLD 4029</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Otto, Edgar A" sort="Otto, Edgar A" uniqKey="Otto E" first="Edgar A." last="Otto">Edgar A. Otto</name>
<affiliation wicri:level="2"><nlm:aff id="aff34">Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109</wicri:regionArea>
<placeName><region type="state">Michigan</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Beales, Philip L" sort="Beales, Philip L" uniqKey="Beales P" first="Philip L." last="Beales">Philip L. Beales</name>
<affiliation wicri:level="1"><nlm:aff id="aff4">Molecular Medicine Unit and Birth Defects Research Centre, University College London Institute of Child Health, London, WC1N 1EH, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Molecular Medicine Unit and Birth Defects Research Centre, University College London Institute of Child Health, London, WC1N 1EH</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Mitchison, Hannah M" sort="Mitchison, Hannah M" uniqKey="Mitchison H" first="Hannah M." last="Mitchison">Hannah M. Mitchison</name>
<affiliation wicri:level="1"><nlm:aff id="aff4">Molecular Medicine Unit and Birth Defects Research Centre, University College London Institute of Child Health, London, WC1N 1EH, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Molecular Medicine Unit and Birth Defects Research Centre, University College London Institute of Child Health, London, WC1N 1EH</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Saunier, Sophie" sort="Saunier, Sophie" uniqKey="Saunier S" first="Sophie" last="Saunier">Sophie Saunier</name>
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<country xml:lang="fr">France</country>
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</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff3">Paris Descartes University, Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France</nlm:aff>
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<wicri:regionArea>Paris Descartes University, Sorbonne Paris Cité, Imagine Institute, 75015 Paris</wicri:regionArea>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Hildebrandt, Friedhelm" sort="Hildebrandt, Friedhelm" uniqKey="Hildebrandt F" first="Friedhelm" last="Hildebrandt">Friedhelm Hildebrandt</name>
<affiliation wicri:level="2"><nlm:aff id="aff1">Division of Nephrology, Department of Medicine, Boston Children’s Hospital and Harvard Medical School, Boston, MA 02115, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Nephrology, Department of Medicine, Boston Children’s Hospital and Harvard Medical School, Boston, MA 02115</wicri:regionArea>
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</placeName>
</affiliation>
<affiliation><nlm:aff id="aff37">Howard Hughes Medical Institute</nlm:aff>
</affiliation>
</author>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans</title>
<author><name sortKey="Halbritter, Jan" sort="Halbritter, Jan" uniqKey="Halbritter J" first="Jan" last="Halbritter">Jan Halbritter</name>
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<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Nephrology, Department of Medicine, Boston Children’s Hospital and Harvard Medical School, Boston, MA 02115</wicri:regionArea>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Bizet, Albane A" sort="Bizet, Albane A" uniqKey="Bizet A" first="Albane A." last="Bizet">Albane A. Bizet</name>
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<country xml:lang="fr">France</country>
<wicri:regionArea>Institut National de la Santé et de la Recherche Médicale U-983, Necker Hospital, 75015 Paris</wicri:regionArea>
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</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff3">Paris Descartes University, Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Paris Descartes University, Sorbonne Paris Cité, Imagine Institute, 75015 Paris</wicri:regionArea>
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</placeName>
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</author>
<author><name sortKey="Schmidts, Miriam" sort="Schmidts, Miriam" uniqKey="Schmidts M" first="Miriam" last="Schmidts">Miriam Schmidts</name>
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<country xml:lang="fr">Royaume-Uni</country>
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</affiliation>
</author>
<author><name sortKey="Porath, Jonathan D" sort="Porath, Jonathan D" uniqKey="Porath J" first="Jonathan D." last="Porath">Jonathan D. Porath</name>
<affiliation wicri:level="2"><nlm:aff id="aff1">Division of Nephrology, Department of Medicine, Boston Children’s Hospital and Harvard Medical School, Boston, MA 02115, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Nephrology, Department of Medicine, Boston Children’s Hospital and Harvard Medical School, Boston, MA 02115</wicri:regionArea>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Braun, Daniela A" sort="Braun, Daniela A" uniqKey="Braun D" first="Daniela A." last="Braun">Daniela A. Braun</name>
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<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Nephrology, Department of Medicine, Boston Children’s Hospital and Harvard Medical School, Boston, MA 02115</wicri:regionArea>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Gee, Heon Yung" sort="Gee, Heon Yung" uniqKey="Gee H" first="Heon Yung" last="Gee">Heon Yung Gee</name>
<affiliation wicri:level="2"><nlm:aff id="aff1">Division of Nephrology, Department of Medicine, Boston Children’s Hospital and Harvard Medical School, Boston, MA 02115, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Nephrology, Department of Medicine, Boston Children’s Hospital and Harvard Medical School, Boston, MA 02115</wicri:regionArea>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Mcinerney Leo, Aideen M" sort="Mcinerney Leo, Aideen M" uniqKey="Mcinerney Leo A" first="Aideen M." last="Mcinerney-Leo">Aideen M. Mcinerney-Leo</name>
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<country xml:lang="fr">Australie</country>
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<author><name sortKey="Krug, Pauline" sort="Krug, Pauline" uniqKey="Krug P" first="Pauline" last="Krug">Pauline Krug</name>
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</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff3">Paris Descartes University, Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France</nlm:aff>
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</affiliation>
</author>
<author><name sortKey="Filhol, Emilie" sort="Filhol, Emilie" uniqKey="Filhol E" first="Emilie" last="Filhol">Emilie Filhol</name>
<affiliation wicri:level="1"><nlm:aff id="aff2">Institut National de la Santé et de la Recherche Médicale U-983, Necker Hospital, 75015 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Institut National de la Santé et de la Recherche Médicale U-983, Necker Hospital, 75015 Paris</wicri:regionArea>
<wicri:noRegion>75015 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff3">Paris Descartes University, Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Paris Descartes University, Sorbonne Paris Cité, Imagine Institute, 75015 Paris</wicri:regionArea>
<wicri:noRegion>75015 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Davis, Erica E" sort="Davis, Erica E" uniqKey="Davis E" first="Erica E." last="Davis">Erica E. Davis</name>
<affiliation wicri:level="2"><nlm:aff id="aff6">Center for Human Disease Modeling, Duke University, Durham, NC 27710, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Center for Human Disease Modeling, Duke University, Durham, NC 27710</wicri:regionArea>
<placeName><region type="state">Caroline du Nord</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Airik, Rannar" sort="Airik, Rannar" uniqKey="Airik R" first="Rannar" last="Airik">Rannar Airik</name>
<affiliation wicri:level="2"><nlm:aff id="aff1">Division of Nephrology, Department of Medicine, Boston Children’s Hospital and Harvard Medical School, Boston, MA 02115, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Nephrology, Department of Medicine, Boston Children’s Hospital and Harvard Medical School, Boston, MA 02115</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Czarnecki, Peter G" sort="Czarnecki, Peter G" uniqKey="Czarnecki P" first="Peter G." last="Czarnecki">Peter G. Czarnecki</name>
<affiliation wicri:level="2"><nlm:aff id="aff7">Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Systems Biology, Harvard Medical School, Boston, MA 02115</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="aff8">Division of Nephrology, Department of Medicine, Beth Israel Deaconess Medical Center, Boston, MA 02215, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Nephrology, Department of Medicine, Beth Israel Deaconess Medical Center, Boston, MA 02215</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="aff9">Harvard-MIT Health Sciences and Technology, Boston, MA 02139, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Harvard-MIT Health Sciences and Technology, Boston, MA 02139</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lehman, Anna M" sort="Lehman, Anna M" uniqKey="Lehman A" first="Anna M." last="Lehman">Anna M. Lehman</name>
<affiliation wicri:level="1"><nlm:aff id="aff10">Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1</wicri:regionArea>
<wicri:noRegion>BC V6H 3N1</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Trnka, Peter" sort="Trnka, Peter" uniqKey="Trnka P" first="Peter" last="Trnka">Peter Trnka</name>
<affiliation wicri:level="1"><nlm:aff id="aff11">School of Paediatrics and Child Health, The University of Queensland, Herston, QLD 4029, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>School of Paediatrics and Child Health, The University of Queensland, Herston, QLD 4029</wicri:regionArea>
<wicri:noRegion>QLD 4029</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Nitschke, Patrick" sort="Nitschke, Patrick" uniqKey="Nitschke P" first="Patrick" last="Nitschké">Patrick Nitschké</name>
<affiliation wicri:level="1"><nlm:aff id="aff12">Bioinformatic Platform, Paris Descartes University, Sorbonne Paris Cité, 75270 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Bioinformatic Platform, Paris Descartes University, Sorbonne Paris Cité, 75270 Paris</wicri:regionArea>
<wicri:noRegion>75270 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bole Feysot, Christine" sort="Bole Feysot, Christine" uniqKey="Bole Feysot C" first="Christine" last="Bole-Feysot">Christine Bole-Feysot</name>
<affiliation wicri:level="1"><nlm:aff id="aff13">Genomic Platform, Imagine Institute, 75015 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Genomic Platform, Imagine Institute, 75015 Paris</wicri:regionArea>
<wicri:noRegion>75015 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Schueler, Markus" sort="Schueler, Markus" uniqKey="Schueler M" first="Markus" last="Schueler">Markus Schueler</name>
<affiliation wicri:level="2"><nlm:aff id="aff1">Division of Nephrology, Department of Medicine, Boston Children’s Hospital and Harvard Medical School, Boston, MA 02115, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Nephrology, Department of Medicine, Boston Children’s Hospital and Harvard Medical School, Boston, MA 02115</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Knebelmann, Bertrand" sort="Knebelmann, Bertrand" uniqKey="Knebelmann B" first="Bertrand" last="Knebelmann">Bertrand Knebelmann</name>
<affiliation wicri:level="3"><nlm:aff id="aff14">Department of Nephrology, Necker Hospital, Assistance Publique – Hôpitaux de Paris, 75015 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Department of Nephrology, Necker Hospital, Assistance Publique – Hôpitaux de Paris, 75015 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Burtey, Stephane" sort="Burtey, Stephane" uniqKey="Burtey S" first="Stéphane" last="Burtey">Stéphane Burtey</name>
<affiliation wicri:level="3"><nlm:aff id="aff15">Centre de Néphrologie et Transplantation Rénale, Hôpital de la Conception, Marseille 13005, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Centre de Néphrologie et Transplantation Rénale, Hôpital de la Conception, Marseille 13005</wicri:regionArea>
<placeName><region type="region" nuts="2">Provence-Alpes-Côte d'Azur</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Szab, Attila J" sort="Szab, Attila J" uniqKey="Szab A" first="Attila J." last="Szab">Attila J. Szab</name>
<affiliation wicri:level="1"><nlm:aff id="aff16">1<sup>st</sup>
Department of Pediatrics, Semmelweis University, 1083 Budapest, Hungary</nlm:aff>
<country xml:lang="fr">Hongrie</country>
<wicri:regionArea> Department of Pediatrics, Semmelweis University, 1083 Budapest</wicri:regionArea>
<placeName><settlement type="city">Budapest</settlement>
<region nuts="2">Hongrie centrale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Tory, Kalman" sort="Tory, Kalman" uniqKey="Tory K" first="Kálmán" last="Tory">Kálmán Tory</name>
<affiliation wicri:level="1"><nlm:aff id="aff2">Institut National de la Santé et de la Recherche Médicale U-983, Necker Hospital, 75015 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Institut National de la Santé et de la Recherche Médicale U-983, Necker Hospital, 75015 Paris</wicri:regionArea>
<wicri:noRegion>75015 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff16">1<sup>st</sup>
Department of Pediatrics, Semmelweis University, 1083 Budapest, Hungary</nlm:aff>
<country xml:lang="fr">Hongrie</country>
<wicri:regionArea> Department of Pediatrics, Semmelweis University, 1083 Budapest</wicri:regionArea>
<placeName><settlement type="city">Budapest</settlement>
<region nuts="2">Hongrie centrale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Leo, Paul J" sort="Leo, Paul J" uniqKey="Leo P" first="Paul J." last="Leo">Paul J. Leo</name>
<affiliation wicri:level="1"><nlm:aff id="aff5">Translational Research Institute, The University of Queensland Diamantina Institute, Level 7, 37 Kent Street, Woolloongabba, QLD 4102, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Translational Research Institute, The University of Queensland Diamantina Institute, Level 7, 37 Kent Street, Woolloongabba, QLD 4102</wicri:regionArea>
<wicri:noRegion>QLD 4102</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gardiner, Brooke" sort="Gardiner, Brooke" uniqKey="Gardiner B" first="Brooke" last="Gardiner">Brooke Gardiner</name>
<affiliation wicri:level="1"><nlm:aff id="aff5">Translational Research Institute, The University of Queensland Diamantina Institute, Level 7, 37 Kent Street, Woolloongabba, QLD 4102, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Translational Research Institute, The University of Queensland Diamantina Institute, Level 7, 37 Kent Street, Woolloongabba, QLD 4102</wicri:regionArea>
<wicri:noRegion>QLD 4102</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mckenzie, Fiona A" sort="Mckenzie, Fiona A" uniqKey="Mckenzie F" first="Fiona A." last="Mckenzie">Fiona A. Mckenzie</name>
<affiliation wicri:level="1"><nlm:aff id="aff17">Genetic Services of Western Australia, Subiaco, WA 6008, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Genetic Services of Western Australia, Subiaco, WA 6008</wicri:regionArea>
<wicri:noRegion>WA 6008</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff18">School of Paediatrics and Child Health, The University of Western Australia, Crawley, WA 6009, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>School of Paediatrics and Child Health, The University of Western Australia, Crawley, WA 6009</wicri:regionArea>
<wicri:noRegion>WA 6009</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Zankl, Andreas" sort="Zankl, Andreas" uniqKey="Zankl A" first="Andreas" last="Zankl">Andreas Zankl</name>
<affiliation wicri:level="1"><nlm:aff id="aff5">Translational Research Institute, The University of Queensland Diamantina Institute, Level 7, 37 Kent Street, Woolloongabba, QLD 4102, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Translational Research Institute, The University of Queensland Diamantina Institute, Level 7, 37 Kent Street, Woolloongabba, QLD 4102</wicri:regionArea>
<wicri:noRegion>QLD 4102</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff19">UQ Centre for Clinical Research, The University of Queensland, Herston, QLD 4029, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>UQ Centre for Clinical Research, The University of Queensland, Herston, QLD 4029</wicri:regionArea>
<wicri:noRegion>QLD 4029</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="aff20">Genetic Medicine, The University of Sydney, Sydney, NSW 2006, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Genetic Medicine, The University of Sydney, Sydney, NSW 2006</wicri:regionArea>
<orgName type="university">Université de Sydney</orgName>
<placeName><settlement type="city">Sydney</settlement>
<region type="état">Nouvelle-Galles du Sud</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff21">Academic Department of Medical Genetics, The Children’s Hospital at Westmead, Sydney, NSW 2145, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Academic Department of Medical Genetics, The Children’s Hospital at Westmead, Sydney, NSW 2145</wicri:regionArea>
<wicri:noRegion>NSW 2145</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Brown, Matthew A" sort="Brown, Matthew A" uniqKey="Brown M" first="Matthew A." last="Brown">Matthew A. Brown</name>
<affiliation wicri:level="1"><nlm:aff id="aff5">Translational Research Institute, The University of Queensland Diamantina Institute, Level 7, 37 Kent Street, Woolloongabba, QLD 4102, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Translational Research Institute, The University of Queensland Diamantina Institute, Level 7, 37 Kent Street, Woolloongabba, QLD 4102</wicri:regionArea>
<wicri:noRegion>QLD 4102</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hartley, Jane L" sort="Hartley, Jane L" uniqKey="Hartley J" first="Jane L." last="Hartley">Jane L. Hartley</name>
<affiliation wicri:level="1"><nlm:aff id="aff22">Birmingham Children’s Hospital, Birmingham B4 6NH, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Birmingham Children’s Hospital, Birmingham B4 6NH</wicri:regionArea>
<wicri:noRegion>Birmingham B4 6NH</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Maher, Eamonn R" sort="Maher, Eamonn R" uniqKey="Maher E" first="Eamonn R." last="Maher">Eamonn R. Maher</name>
<affiliation wicri:level="4"><nlm:aff id="aff23">Centre for Rare Diseases and Personalised Medicine, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Centre for Rare Diseases and Personalised Medicine, University of Birmingham, Edgbaston, Birmingham B15 2TT</wicri:regionArea>
<orgName type="university">Université de Birmingham</orgName>
<placeName><settlement type="city">Birmingham</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Midlands de l'Ouest</region>
</placeName>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="aff24">Department of Medical Genetics, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Medical Genetics, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0QQ</wicri:regionArea>
<orgName type="university">Université de Cambridge</orgName>
<placeName><settlement type="city">Cambridge</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Angleterre de l'Est</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Li, Chunmei" sort="Li, Chunmei" uniqKey="Li C" first="Chunmei" last="Li">Chunmei Li</name>
<affiliation wicri:level="1"><nlm:aff id="aff25">Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, BC V5A 1S6, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, BC V5A 1S6</wicri:regionArea>
<wicri:noRegion>BC V5A 1S6</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Leroux, Michel R" sort="Leroux, Michel R" uniqKey="Leroux M" first="Michel R." last="Leroux">Michel R. Leroux</name>
<affiliation wicri:level="1"><nlm:aff id="aff25">Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, BC V5A 1S6, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, BC V5A 1S6</wicri:regionArea>
<wicri:noRegion>BC V5A 1S6</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Scambler, Peter J" sort="Scambler, Peter J" uniqKey="Scambler P" first="Peter J." last="Scambler">Peter J. Scambler</name>
<affiliation wicri:level="1"><nlm:aff id="aff4">Molecular Medicine Unit and Birth Defects Research Centre, University College London Institute of Child Health, London, WC1N 1EH, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Molecular Medicine Unit and Birth Defects Research Centre, University College London Institute of Child Health, London, WC1N 1EH</wicri:regionArea>
<wicri:noRegion>WC1N 1EH</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Zhan, Shing H" sort="Zhan, Shing H" uniqKey="Zhan S" first="Shing H." last="Zhan">Shing H. Zhan</name>
<affiliation wicri:level="1"><nlm:aff id="aff26">Genome Sciences Centre, British Columbia Cancer Agency, Vancouver, BC V5Z 4S6, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Genome Sciences Centre, British Columbia Cancer Agency, Vancouver, BC V5Z 4S6</wicri:regionArea>
<wicri:noRegion>BC V5Z 4S6</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Jones, Steven J" sort="Jones, Steven J" uniqKey="Jones S" first="Steven J." last="Jones">Steven J. Jones</name>
<affiliation wicri:level="1"><nlm:aff id="aff10">Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1</wicri:regionArea>
<wicri:noRegion>BC V6H 3N1</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff26">Genome Sciences Centre, British Columbia Cancer Agency, Vancouver, BC V5Z 4S6, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Genome Sciences Centre, British Columbia Cancer Agency, Vancouver, BC V5Z 4S6</wicri:regionArea>
<wicri:noRegion>BC V5Z 4S6</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kayserili, Hulya" sort="Kayserili, Hulya" uniqKey="Kayserili H" first="Hülya" last="Kayserili">Hülya Kayserili</name>
<affiliation wicri:level="1"><nlm:aff id="aff27">Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Istanbul 34093, Turkey</nlm:aff>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea>Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Istanbul 34093</wicri:regionArea>
<wicri:noRegion>Istanbul 34093</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Tuysuz, Beyhan" sort="Tuysuz, Beyhan" uniqKey="Tuysuz B" first="Beyhan" last="Tuysuz">Beyhan Tuysuz</name>
<affiliation wicri:level="1"><nlm:aff id="aff28">Division of Pediatric Genetics, Department of Pediatrics, Cerrahpasa Medical School, Istanbul University, Istanbul 34098, Turkey</nlm:aff>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea>Division of Pediatric Genetics, Department of Pediatrics, Cerrahpasa Medical School, Istanbul University, Istanbul 34098</wicri:regionArea>
<wicri:noRegion>Istanbul 34098</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Moorani, Khemchand N" sort="Moorani, Khemchand N" uniqKey="Moorani K" first="Khemchand N." last="Moorani">Khemchand N. Moorani</name>
<affiliation wicri:level="1"><nlm:aff id="aff29">Department of Paediatric Nephrology, National Institute of Child Health, Karachi 75510, Pakistan</nlm:aff>
<country xml:lang="fr">Pakistan</country>
<wicri:regionArea>Department of Paediatric Nephrology, National Institute of Child Health, Karachi 75510</wicri:regionArea>
<wicri:noRegion>Karachi 75510</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Constantinescu, Alexandru" sort="Constantinescu, Alexandru" uniqKey="Constantinescu A" first="Alexandru" last="Constantinescu">Alexandru Constantinescu</name>
<affiliation wicri:level="2"><nlm:aff id="aff30">Division of Pediatric Nephrology, Joe DiMaggio Children’s Hospital, Hollywood, FL 33021, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Pediatric Nephrology, Joe DiMaggio Children’s Hospital, Hollywood, FL 33021</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Krantz, Ian D" sort="Krantz, Ian D" uniqKey="Krantz I" first="Ian D." last="Krantz">Ian D. Krantz</name>
<affiliation wicri:level="2"><nlm:aff id="aff31">Division of Human Genetics, The Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Human Genetics, The Children’s Hospital of Philadelphia, Philadelphia, PA 19104</wicri:regionArea>
<placeName><region type="state">Pennsylvanie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Kaplan, Bernard S" sort="Kaplan, Bernard S" uniqKey="Kaplan B" first="Bernard S." last="Kaplan">Bernard S. Kaplan</name>
<affiliation wicri:level="2"><nlm:aff id="aff32">Division of Nephrology, The Children’s Hospital of Philadelphia, Philadelphia, PA 19104-4399, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Nephrology, The Children’s Hospital of Philadelphia, Philadelphia, PA 19104-4399</wicri:regionArea>
<placeName><region type="state">Pennsylvanie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Shah, Jagesh V" sort="Shah, Jagesh V" uniqKey="Shah J" first="Jagesh V." last="Shah">Jagesh V. Shah</name>
<affiliation wicri:level="2"><nlm:aff id="aff7">Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Systems Biology, Harvard Medical School, Boston, MA 02115</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="aff9">Harvard-MIT Health Sciences and Technology, Boston, MA 02139, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Harvard-MIT Health Sciences and Technology, Boston, MA 02139</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="aff33">Renal Medicine, Brigham and Women’s Hospital, Boston, MA 02215, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Renal Medicine, Brigham and Women’s Hospital, Boston, MA 02215</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hurd, Toby W" sort="Hurd, Toby W" uniqKey="Hurd T" first="Toby W." last="Hurd">Toby W. Hurd</name>
<affiliation wicri:level="2"><nlm:aff id="aff34">Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109</wicri:regionArea>
<placeName><region type="state">Michigan</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Doherty, Dan" sort="Doherty, Dan" uniqKey="Doherty D" first="Dan" last="Doherty">Dan Doherty</name>
<affiliation wicri:level="4"><nlm:aff id="aff35">Department of Pediatrics, University of Washington, Seattle, WA 98195-6320, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, University of Washington, Seattle, WA 98195-6320</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
</author>
<author><name sortKey="Katsanis, Nicholas" sort="Katsanis, Nicholas" uniqKey="Katsanis N" first="Nicholas" last="Katsanis">Nicholas Katsanis</name>
<affiliation wicri:level="2"><nlm:aff id="aff6">Center for Human Disease Modeling, Duke University, Durham, NC 27710, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Center for Human Disease Modeling, Duke University, Durham, NC 27710</wicri:regionArea>
<placeName><region type="state">Caroline du Nord</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Duncan, Emma L" sort="Duncan, Emma L" uniqKey="Duncan E" first="Emma L." last="Duncan">Emma L. Duncan</name>
<affiliation wicri:level="1"><nlm:aff id="aff5">Translational Research Institute, The University of Queensland Diamantina Institute, Level 7, 37 Kent Street, Woolloongabba, QLD 4102, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Translational Research Institute, The University of Queensland Diamantina Institute, Level 7, 37 Kent Street, Woolloongabba, QLD 4102</wicri:regionArea>
<wicri:noRegion>QLD 4102</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff18">School of Paediatrics and Child Health, The University of Western Australia, Crawley, WA 6009, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>School of Paediatrics and Child Health, The University of Western Australia, Crawley, WA 6009</wicri:regionArea>
<wicri:noRegion>WA 6009</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff36">Department of Endocrinology, Royal Brisbane and Women’s Hospital, James Mayne Building, Butterfield Road, Herston, QLD 4029, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Endocrinology, Royal Brisbane and Women’s Hospital, James Mayne Building, Butterfield Road, Herston, QLD 4029</wicri:regionArea>
<wicri:noRegion>QLD 4029</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Otto, Edgar A" sort="Otto, Edgar A" uniqKey="Otto E" first="Edgar A." last="Otto">Edgar A. Otto</name>
<affiliation wicri:level="2"><nlm:aff id="aff34">Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109</wicri:regionArea>
<placeName><region type="state">Michigan</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Beales, Philip L" sort="Beales, Philip L" uniqKey="Beales P" first="Philip L." last="Beales">Philip L. Beales</name>
<affiliation wicri:level="1"><nlm:aff id="aff4">Molecular Medicine Unit and Birth Defects Research Centre, University College London Institute of Child Health, London, WC1N 1EH, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Molecular Medicine Unit and Birth Defects Research Centre, University College London Institute of Child Health, London, WC1N 1EH</wicri:regionArea>
<wicri:noRegion>WC1N 1EH</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mitchison, Hannah M" sort="Mitchison, Hannah M" uniqKey="Mitchison H" first="Hannah M." last="Mitchison">Hannah M. Mitchison</name>
<affiliation wicri:level="1"><nlm:aff id="aff4">Molecular Medicine Unit and Birth Defects Research Centre, University College London Institute of Child Health, London, WC1N 1EH, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Molecular Medicine Unit and Birth Defects Research Centre, University College London Institute of Child Health, London, WC1N 1EH</wicri:regionArea>
<wicri:noRegion>WC1N 1EH</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Saunier, Sophie" sort="Saunier, Sophie" uniqKey="Saunier S" first="Sophie" last="Saunier">Sophie Saunier</name>
<affiliation wicri:level="1"><nlm:aff id="aff2">Institut National de la Santé et de la Recherche Médicale U-983, Necker Hospital, 75015 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Institut National de la Santé et de la Recherche Médicale U-983, Necker Hospital, 75015 Paris</wicri:regionArea>
<wicri:noRegion>75015 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff3">Paris Descartes University, Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Paris Descartes University, Sorbonne Paris Cité, Imagine Institute, 75015 Paris</wicri:regionArea>
<wicri:noRegion>75015 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hildebrandt, Friedhelm" sort="Hildebrandt, Friedhelm" uniqKey="Hildebrandt F" first="Friedhelm" last="Hildebrandt">Friedhelm Hildebrandt</name>
<affiliation wicri:level="2"><nlm:aff id="aff1">Division of Nephrology, Department of Medicine, Boston Children’s Hospital and Harvard Medical School, Boston, MA 02115, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Nephrology, Department of Medicine, Boston Children’s Hospital and Harvard Medical School, Boston, MA 02115</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation><nlm:aff id="aff37">Howard Hughes Medical Institute</nlm:aff>
</affiliation>
</author>
</analytic>
<series><title level="j">American Journal of Human Genetics</title>
<idno type="ISSN">0002-9297</idno>
<idno type="eISSN">1537-6605</idno>
<imprint><date when="2013">2013</date>
</imprint>
</series>
</biblStruct>
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</fileDesc>
<profileDesc><textClass></textClass>
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</teiHeader>
<front><div type="abstract" xml:lang="en"><p>Intraflagellar transport (IFT) depends on two evolutionarily conserved modules, subcomplexes A (IFT-A) and B (IFT-B), to drive ciliary assembly and maintenance. All six IFT-A components and their motor protein, DYNC2H1, have been linked to human skeletal ciliopathies, including asphyxiating thoracic dystrophy (ATD; also known as Jeune syndrome), Sensenbrenner syndrome, and Mainzer-Saldino syndrome (MZSDS). Conversely, the 14 subunits in the IFT-B module, with the exception of IFT80, have unknown roles in human disease. To identify additional IFT-B components defective in ciliopathies, we independently performed different mutation analyses: candidate-based sequencing of all IFT-B-encoding genes in 1,467 individuals with a nephronophthisis-related ciliopathy or whole-exome resequencing in 63 individuals with ATD. We thereby detected biallelic mutations in the IFT-B-encoding gene <italic>IFT172</italic>
in 12 families. All affected individuals displayed abnormalities of the thorax and/or long bones, as well as renal, hepatic, or retinal involvement, consistent with the diagnosis of ATD or MZSDS. Additionally, cerebellar aplasia or hypoplasia characteristic of Joubert syndrome was present in 2 out of 12 families. Fibroblasts from affected individuals showed disturbed ciliary composition, suggesting alteration of ciliary transport and signaling. Knockdown of <italic>ift172</italic>
in zebrafish recapitulated the human phenotype and demonstrated a genetic interaction between <italic>ift172</italic>
and <italic>ift80</italic>
. In summary, we have identified defects in IFT172 as a cause of complex ATD and MZSDS. Our findings link the group of skeletal ciliopathies to an additional IFT-B component, IFT172, similar to what has been shown for IFT-A.</p>
</div>
</front>
</TEI>
<affiliations><list><country><li>Australie</li>
<li>Canada</li>
<li>France</li>
<li>Hongrie</li>
<li>Pakistan</li>
<li>Royaume-Uni</li>
<li>Turquie</li>
<li>États-Unis</li>
</country>
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<li>Angleterre de l'Est</li>
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<li>Massachusetts</li>
<li>Michigan</li>
<li>Midlands de l'Ouest</li>
<li>Nouvelle-Galles du Sud</li>
<li>Pennsylvanie</li>
<li>Provence-Alpes-Côte d'Azur</li>
<li>Washington (État)</li>
<li>Île-de-France</li>
</region>
<settlement><li>Birmingham</li>
<li>Budapest</li>
<li>Cambridge</li>
<li>Paris</li>
<li>Seattle</li>
<li>Sydney</li>
</settlement>
<orgName><li>Université de Birmingham</li>
<li>Université de Cambridge</li>
<li>Université de Sydney</li>
<li>Université de Washington</li>
</orgName>
</list>
<tree><country name="États-Unis"><region name="Massachusetts"><name sortKey="Halbritter, Jan" sort="Halbritter, Jan" uniqKey="Halbritter J" first="Jan" last="Halbritter">Jan Halbritter</name>
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<name sortKey="Czarnecki, Peter G" sort="Czarnecki, Peter G" uniqKey="Czarnecki P" first="Peter G." last="Czarnecki">Peter G. Czarnecki</name>
<name sortKey="Czarnecki, Peter G" sort="Czarnecki, Peter G" uniqKey="Czarnecki P" first="Peter G." last="Czarnecki">Peter G. Czarnecki</name>
<name sortKey="Davis, Erica E" sort="Davis, Erica E" uniqKey="Davis E" first="Erica E." last="Davis">Erica E. Davis</name>
<name sortKey="Doherty, Dan" sort="Doherty, Dan" uniqKey="Doherty D" first="Dan" last="Doherty">Dan Doherty</name>
<name sortKey="Gee, Heon Yung" sort="Gee, Heon Yung" uniqKey="Gee H" first="Heon Yung" last="Gee">Heon Yung Gee</name>
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<name sortKey="Katsanis, Nicholas" sort="Katsanis, Nicholas" uniqKey="Katsanis N" first="Nicholas" last="Katsanis">Nicholas Katsanis</name>
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</record>
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