Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations
Identifieur interne : 001197 ( Pmc/Corpus ); précédent : 001196; suivant : 001198Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations
Auteurs : Isabelle Perrault ; Sophie Saunier ; Sylvain Hanein ; Emilie Filhol ; Albane A. Bizet ; Felicity Collins ; Mustafa A. M. Salih ; Sylvie Gerber ; Nathalie Delphin ; Karine Bigot ; Christophe Orssaud ; Eduardo Silva ; Véronique Baudouin ; Machteld M. Oud ; Nora Shannon ; Martine Le Merrer ; Olivier Roche ; Christine Pietrement ; Jamal Goumid ; Clarisse Baumann ; Christine Bole-Feysot ; Patrick Nitschke ; Mohammed Zahrate ; Philip Beales ; Heleen H. Arts ; Arnold Munnich ; Josseline Kaplan ; Corinne Antignac ; Valérie Cormier-Daire ; Jean-Michel RozetSource :
- American Journal of Human Genetics [ 0002-9297 ] ; 2012.
Abstract
Mainzer-Saldino syndrome (MSS) is a rare disorder characterized by phalangeal cone-shaped epiphyses, chronic renal failure, and early-onset, severe retinal dystrophy. Through a combination of ciliome resequencing and Sanger sequencing, we identified
Url:
DOI: 10.1016/j.ajhg.2012.03.006
PubMed: 22503633
PubMed Central: 3376548
Links to Exploration step
PMC:3376548Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Mainzer-Saldino Syndrome Is a Ciliopathy Caused by <italic>IFT140</italic>
Mutations</title>
<author><name sortKey="Perrault, Isabelle" sort="Perrault, Isabelle" uniqKey="Perrault I" first="Isabelle" last="Perrault">Isabelle Perrault</name>
<affiliation><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Saunier, Sophie" sort="Saunier, Sophie" uniqKey="Saunier S" first="Sophie" last="Saunier">Sophie Saunier</name>
<affiliation><nlm:aff id="aff2">INSERM, U983, Paris Descartes University, 75015 Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Hanein, Sylvain" sort="Hanein, Sylvain" uniqKey="Hanein S" first="Sylvain" last="Hanein">Sylvain Hanein</name>
<affiliation><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Filhol, Emilie" sort="Filhol, Emilie" uniqKey="Filhol E" first="Emilie" last="Filhol">Emilie Filhol</name>
<affiliation><nlm:aff id="aff2">INSERM, U983, Paris Descartes University, 75015 Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Bizet, Albane A" sort="Bizet, Albane A" uniqKey="Bizet A" first="Albane A." last="Bizet">Albane A. Bizet</name>
<affiliation><nlm:aff id="aff2">INSERM, U983, Paris Descartes University, 75015 Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Collins, Felicity" sort="Collins, Felicity" uniqKey="Collins F" first="Felicity" last="Collins">Felicity Collins</name>
<affiliation><nlm:aff id="aff3">Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, NSW 2145, Australia</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Salih, Mustafa A M" sort="Salih, Mustafa A M" uniqKey="Salih M" first="Mustafa A. M." last="Salih">Mustafa A. M. Salih</name>
<affiliation><nlm:aff id="aff4">Division of Pediatric Neurology, College of Medicine, King Saud University, Riyadh 11461, Saudi Arabia</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Gerber, Sylvie" sort="Gerber, Sylvie" uniqKey="Gerber S" first="Sylvie" last="Gerber">Sylvie Gerber</name>
<affiliation><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Delphin, Nathalie" sort="Delphin, Nathalie" uniqKey="Delphin N" first="Nathalie" last="Delphin">Nathalie Delphin</name>
<affiliation><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Bigot, Karine" sort="Bigot, Karine" uniqKey="Bigot K" first="Karine" last="Bigot">Karine Bigot</name>
<affiliation><nlm:aff id="aff5">Centre d'Exploration et de Ressources Thérapeutiques en Ophtalmologie (CERTO), 75015 Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Orssaud, Christophe" sort="Orssaud, Christophe" uniqKey="Orssaud C" first="Christophe" last="Orssaud">Christophe Orssaud</name>
<affiliation><nlm:aff id="aff6">Department of Ophthalmology, Paris Descartes University, 75015 Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Silva, Eduardo" sort="Silva, Eduardo" uniqKey="Silva E" first="Eduardo" last="Silva">Eduardo Silva</name>
<affiliation><nlm:aff id="aff7">Department of Ophthalmology, Coimbra University Hospital, 3000-548 Coimbra, Portugal</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Baudouin, Veronique" sort="Baudouin, Veronique" uniqKey="Baudouin V" first="Véronique" last="Baudouin">Véronique Baudouin</name>
<affiliation><nlm:aff id="aff8">Department of Nephrology, Centre Hospitalier Universitaire (CHU) Robert Debré, 75019 Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Oud, Machteld M" sort="Oud, Machteld M" uniqKey="Oud M" first="Machteld M." last="Oud">Machteld M. Oud</name>
<affiliation><nlm:aff id="aff9">Department of Genetics, Radboud University Nijmegen Medical Centre, 6525 GA, Nijmegen, The Netherlands</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Shannon, Nora" sort="Shannon, Nora" uniqKey="Shannon N" first="Nora" last="Shannon">Nora Shannon</name>
<affiliation><nlm:aff id="aff10">Clinical Genetics Service, City Hospital, Nottingham NG5 1PB, UK</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Le Merrer, Martine" sort="Le Merrer, Martine" uniqKey="Le Merrer M" first="Martine" last="Le Merrer">Martine Le Merrer</name>
<affiliation><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Roche, Olivier" sort="Roche, Olivier" uniqKey="Roche O" first="Olivier" last="Roche">Olivier Roche</name>
<affiliation><nlm:aff id="aff6">Department of Ophthalmology, Paris Descartes University, 75015 Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Pietrement, Christine" sort="Pietrement, Christine" uniqKey="Pietrement C" first="Christine" last="Pietrement">Christine Pietrement</name>
<affiliation><nlm:aff id="aff11">Department of Pediatrics, American Memorial Hospital, CHU Reims, 51092 Reims Cedex, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Goumid, Jamal" sort="Goumid, Jamal" uniqKey="Goumid J" first="Jamal" last="Goumid">Jamal Goumid</name>
<affiliation><nlm:aff id="aff12">Department of Genetics, CHU Robert Debré, 75019 Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Baumann, Clarisse" sort="Baumann, Clarisse" uniqKey="Baumann C" first="Clarisse" last="Baumann">Clarisse Baumann</name>
<affiliation><nlm:aff id="aff12">Department of Genetics, CHU Robert Debré, 75019 Paris, France</nlm:aff>
</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><nlm:aff id="aff13">Genomics Platform,<italic>Imagine</italic>
Foundation and Paris Descartes University, 75015 Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Nitschke, Patrick" sort="Nitschke, Patrick" uniqKey="Nitschke P" first="Patrick" last="Nitschke">Patrick Nitschke</name>
<affiliation><nlm:aff id="aff14">Bioinformatics Platform, Paris Descartes University, 75015 Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Zahrate, Mohammed" sort="Zahrate, Mohammed" uniqKey="Zahrate M" first="Mohammed" last="Zahrate">Mohammed Zahrate</name>
<affiliation><nlm:aff id="aff13">Genomics Platform,<italic>Imagine</italic>
Foundation and Paris Descartes University, 75015 Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Beales, Philip" sort="Beales, Philip" uniqKey="Beales P" first="Philip" last="Beales">Philip Beales</name>
<affiliation><nlm:aff id="aff15">Molecular Medicine Unit, University College London (UCL) Institute of Child Health, London WC1N 1EH, UK</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Arts, Heleen H" sort="Arts, Heleen H" uniqKey="Arts H" first="Heleen H." last="Arts">Heleen H. Arts</name>
<affiliation><nlm:aff id="aff9">Department of Genetics, Radboud University Nijmegen Medical Centre, 6525 GA, Nijmegen, The Netherlands</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Munnich, Arnold" sort="Munnich, Arnold" uniqKey="Munnich A" first="Arnold" last="Munnich">Arnold Munnich</name>
<affiliation><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Kaplan, Josseline" sort="Kaplan, Josseline" uniqKey="Kaplan J" first="Josseline" last="Kaplan">Josseline Kaplan</name>
<affiliation><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Antignac, Corinne" sort="Antignac, Corinne" uniqKey="Antignac C" first="Corinne" last="Antignac">Corinne Antignac</name>
<affiliation><nlm:aff id="aff2">INSERM, U983, Paris Descartes University, 75015 Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valérie" last="Cormier-Daire">Valérie Cormier-Daire</name>
<affiliation><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Rozet, Jean Michel" sort="Rozet, Jean Michel" uniqKey="Rozet J" first="Jean-Michel" last="Rozet">Jean-Michel Rozet</name>
<affiliation><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</nlm:aff>
</affiliation>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Mainzer-Saldino Syndrome Is a Ciliopathy Caused by <italic>IFT140</italic>
Mutations</title>
<author><name sortKey="Perrault, Isabelle" sort="Perrault, Isabelle" uniqKey="Perrault I" first="Isabelle" last="Perrault">Isabelle Perrault</name>
<affiliation><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Saunier, Sophie" sort="Saunier, Sophie" uniqKey="Saunier S" first="Sophie" last="Saunier">Sophie Saunier</name>
<affiliation><nlm:aff id="aff2">INSERM, U983, Paris Descartes University, 75015 Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Hanein, Sylvain" sort="Hanein, Sylvain" uniqKey="Hanein S" first="Sylvain" last="Hanein">Sylvain Hanein</name>
<affiliation><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Filhol, Emilie" sort="Filhol, Emilie" uniqKey="Filhol E" first="Emilie" last="Filhol">Emilie Filhol</name>
<affiliation><nlm:aff id="aff2">INSERM, U983, Paris Descartes University, 75015 Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Bizet, Albane A" sort="Bizet, Albane A" uniqKey="Bizet A" first="Albane A." last="Bizet">Albane A. Bizet</name>
<affiliation><nlm:aff id="aff2">INSERM, U983, Paris Descartes University, 75015 Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Collins, Felicity" sort="Collins, Felicity" uniqKey="Collins F" first="Felicity" last="Collins">Felicity Collins</name>
<affiliation><nlm:aff id="aff3">Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, NSW 2145, Australia</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Salih, Mustafa A M" sort="Salih, Mustafa A M" uniqKey="Salih M" first="Mustafa A. M." last="Salih">Mustafa A. M. Salih</name>
<affiliation><nlm:aff id="aff4">Division of Pediatric Neurology, College of Medicine, King Saud University, Riyadh 11461, Saudi Arabia</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Gerber, Sylvie" sort="Gerber, Sylvie" uniqKey="Gerber S" first="Sylvie" last="Gerber">Sylvie Gerber</name>
<affiliation><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Delphin, Nathalie" sort="Delphin, Nathalie" uniqKey="Delphin N" first="Nathalie" last="Delphin">Nathalie Delphin</name>
<affiliation><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Bigot, Karine" sort="Bigot, Karine" uniqKey="Bigot K" first="Karine" last="Bigot">Karine Bigot</name>
<affiliation><nlm:aff id="aff5">Centre d'Exploration et de Ressources Thérapeutiques en Ophtalmologie (CERTO), 75015 Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Orssaud, Christophe" sort="Orssaud, Christophe" uniqKey="Orssaud C" first="Christophe" last="Orssaud">Christophe Orssaud</name>
<affiliation><nlm:aff id="aff6">Department of Ophthalmology, Paris Descartes University, 75015 Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Silva, Eduardo" sort="Silva, Eduardo" uniqKey="Silva E" first="Eduardo" last="Silva">Eduardo Silva</name>
<affiliation><nlm:aff id="aff7">Department of Ophthalmology, Coimbra University Hospital, 3000-548 Coimbra, Portugal</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Baudouin, Veronique" sort="Baudouin, Veronique" uniqKey="Baudouin V" first="Véronique" last="Baudouin">Véronique Baudouin</name>
<affiliation><nlm:aff id="aff8">Department of Nephrology, Centre Hospitalier Universitaire (CHU) Robert Debré, 75019 Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Oud, Machteld M" sort="Oud, Machteld M" uniqKey="Oud M" first="Machteld M." last="Oud">Machteld M. Oud</name>
<affiliation><nlm:aff id="aff9">Department of Genetics, Radboud University Nijmegen Medical Centre, 6525 GA, Nijmegen, The Netherlands</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Shannon, Nora" sort="Shannon, Nora" uniqKey="Shannon N" first="Nora" last="Shannon">Nora Shannon</name>
<affiliation><nlm:aff id="aff10">Clinical Genetics Service, City Hospital, Nottingham NG5 1PB, UK</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Le Merrer, Martine" sort="Le Merrer, Martine" uniqKey="Le Merrer M" first="Martine" last="Le Merrer">Martine Le Merrer</name>
<affiliation><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Roche, Olivier" sort="Roche, Olivier" uniqKey="Roche O" first="Olivier" last="Roche">Olivier Roche</name>
<affiliation><nlm:aff id="aff6">Department of Ophthalmology, Paris Descartes University, 75015 Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Pietrement, Christine" sort="Pietrement, Christine" uniqKey="Pietrement C" first="Christine" last="Pietrement">Christine Pietrement</name>
<affiliation><nlm:aff id="aff11">Department of Pediatrics, American Memorial Hospital, CHU Reims, 51092 Reims Cedex, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Goumid, Jamal" sort="Goumid, Jamal" uniqKey="Goumid J" first="Jamal" last="Goumid">Jamal Goumid</name>
<affiliation><nlm:aff id="aff12">Department of Genetics, CHU Robert Debré, 75019 Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Baumann, Clarisse" sort="Baumann, Clarisse" uniqKey="Baumann C" first="Clarisse" last="Baumann">Clarisse Baumann</name>
<affiliation><nlm:aff id="aff12">Department of Genetics, CHU Robert Debré, 75019 Paris, France</nlm:aff>
</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><nlm:aff id="aff13">Genomics Platform,<italic>Imagine</italic>
Foundation and Paris Descartes University, 75015 Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Nitschke, Patrick" sort="Nitschke, Patrick" uniqKey="Nitschke P" first="Patrick" last="Nitschke">Patrick Nitschke</name>
<affiliation><nlm:aff id="aff14">Bioinformatics Platform, Paris Descartes University, 75015 Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Zahrate, Mohammed" sort="Zahrate, Mohammed" uniqKey="Zahrate M" first="Mohammed" last="Zahrate">Mohammed Zahrate</name>
<affiliation><nlm:aff id="aff13">Genomics Platform,<italic>Imagine</italic>
Foundation and Paris Descartes University, 75015 Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Beales, Philip" sort="Beales, Philip" uniqKey="Beales P" first="Philip" last="Beales">Philip Beales</name>
<affiliation><nlm:aff id="aff15">Molecular Medicine Unit, University College London (UCL) Institute of Child Health, London WC1N 1EH, UK</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Arts, Heleen H" sort="Arts, Heleen H" uniqKey="Arts H" first="Heleen H." last="Arts">Heleen H. Arts</name>
<affiliation><nlm:aff id="aff9">Department of Genetics, Radboud University Nijmegen Medical Centre, 6525 GA, Nijmegen, The Netherlands</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Munnich, Arnold" sort="Munnich, Arnold" uniqKey="Munnich A" first="Arnold" last="Munnich">Arnold Munnich</name>
<affiliation><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Kaplan, Josseline" sort="Kaplan, Josseline" uniqKey="Kaplan J" first="Josseline" last="Kaplan">Josseline Kaplan</name>
<affiliation><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Antignac, Corinne" sort="Antignac, Corinne" uniqKey="Antignac C" first="Corinne" last="Antignac">Corinne Antignac</name>
<affiliation><nlm:aff id="aff2">INSERM, U983, Paris Descartes University, 75015 Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valérie" last="Cormier-Daire">Valérie Cormier-Daire</name>
<affiliation><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Rozet, Jean Michel" sort="Rozet, Jean Michel" uniqKey="Rozet J" first="Jean-Michel" last="Rozet">Jean-Michel Rozet</name>
<affiliation><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</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="2012">2012</date>
</imprint>
</series>
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<front><div type="abstract" xml:lang="en"><p>Mainzer-Saldino syndrome (MSS) is a rare disorder characterized by phalangeal cone-shaped epiphyses, chronic renal failure, and early-onset, severe retinal dystrophy. Through a combination of ciliome resequencing and Sanger sequencing, we identified <italic>IFT140</italic>
mutations in six MSS families and in a family with the clinically overlapping Jeune syndrome. IFT140 is one of the six currently known components of the intraflagellar transport complex A (IFT-A) that regulates retrograde protein transport in ciliated cells. Ciliary abundance and localization of anterograde IFTs were altered in fibroblasts of affected individuals, a result that supports the pivotal role of IFT140 in proper development and function of ciliated cells.</p>
</div>
</front>
</TEI>
<pmc article-type="brief-report"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Am J Hum Genet</journal-id>
<journal-id journal-id-type="iso-abbrev">Am. J. Hum. Genet</journal-id>
<journal-title-group><journal-title>American Journal of Human Genetics</journal-title>
</journal-title-group>
<issn pub-type="ppub">0002-9297</issn>
<issn pub-type="epub">1537-6605</issn>
<publisher><publisher-name>Elsevier</publisher-name>
</publisher>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">22503633</article-id>
<article-id pub-id-type="pmc">3376548</article-id>
<article-id pub-id-type="publisher-id">AJHG1114</article-id>
<article-id pub-id-type="doi">10.1016/j.ajhg.2012.03.006</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Report</subject>
</subj-group>
</article-categories>
<title-group><article-title>Mainzer-Saldino Syndrome Is a Ciliopathy Caused by <italic>IFT140</italic>
Mutations</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Perrault</surname>
<given-names>Isabelle</given-names>
</name>
<xref rid="aff1" ref-type="aff">1</xref>
<xref rid="fn1" ref-type="fn">16</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Saunier</surname>
<given-names>Sophie</given-names>
</name>
<xref rid="aff2" ref-type="aff">2</xref>
<xref rid="fn1" ref-type="fn">16</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Hanein</surname>
<given-names>Sylvain</given-names>
</name>
<xref rid="aff1" ref-type="aff">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Filhol</surname>
<given-names>Emilie</given-names>
</name>
<xref rid="aff2" ref-type="aff">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Bizet</surname>
<given-names>Albane A.</given-names>
</name>
<xref rid="aff2" ref-type="aff">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Collins</surname>
<given-names>Felicity</given-names>
</name>
<xref rid="aff3" ref-type="aff">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Salih</surname>
<given-names>Mustafa A.M.</given-names>
</name>
<xref rid="aff4" ref-type="aff">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Gerber</surname>
<given-names>Sylvie</given-names>
</name>
<xref rid="aff1" ref-type="aff">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Delphin</surname>
<given-names>Nathalie</given-names>
</name>
<xref rid="aff1" ref-type="aff">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Bigot</surname>
<given-names>Karine</given-names>
</name>
<xref rid="aff5" ref-type="aff">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Orssaud</surname>
<given-names>Christophe</given-names>
</name>
<xref rid="aff6" ref-type="aff">6</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Silva</surname>
<given-names>Eduardo</given-names>
</name>
<xref rid="aff7" ref-type="aff">7</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Baudouin</surname>
<given-names>Véronique</given-names>
</name>
<xref rid="aff8" ref-type="aff">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Oud</surname>
<given-names>Machteld M.</given-names>
</name>
<xref rid="aff9" ref-type="aff">9</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Shannon</surname>
<given-names>Nora</given-names>
</name>
<xref rid="aff10" ref-type="aff">10</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Le Merrer</surname>
<given-names>Martine</given-names>
</name>
<xref rid="aff1" ref-type="aff">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Roche</surname>
<given-names>Olivier</given-names>
</name>
<xref rid="aff6" ref-type="aff">6</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Pietrement</surname>
<given-names>Christine</given-names>
</name>
<xref rid="aff11" ref-type="aff">11</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Goumid</surname>
<given-names>Jamal</given-names>
</name>
<xref rid="aff12" ref-type="aff">12</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Baumann</surname>
<given-names>Clarisse</given-names>
</name>
<xref rid="aff12" ref-type="aff">12</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Bole-Feysot</surname>
<given-names>Christine</given-names>
</name>
<xref rid="aff13" ref-type="aff">13</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Nitschke</surname>
<given-names>Patrick</given-names>
</name>
<xref rid="aff14" ref-type="aff">14</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Zahrate</surname>
<given-names>Mohammed</given-names>
</name>
<xref rid="aff13" ref-type="aff">13</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Beales</surname>
<given-names>Philip</given-names>
</name>
<xref rid="aff15" ref-type="aff">15</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Arts</surname>
<given-names>Heleen H.</given-names>
</name>
<xref rid="aff9" ref-type="aff">9</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Munnich</surname>
<given-names>Arnold</given-names>
</name>
<xref rid="aff1" ref-type="aff">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Kaplan</surname>
<given-names>Josseline</given-names>
</name>
<email>josseline.kaplan@inserm.fr</email>
<xref rid="aff1" ref-type="aff">1</xref>
<xref rid="cor1" ref-type="corresp">∗</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Antignac</surname>
<given-names>Corinne</given-names>
</name>
<xref rid="aff2" ref-type="aff">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Cormier-Daire</surname>
<given-names>Valérie</given-names>
</name>
<xref rid="aff1" ref-type="aff">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Rozet</surname>
<given-names>Jean-Michel</given-names>
</name>
<email>jean-michel.rozet@inserm.fr</email>
<xref rid="aff1" ref-type="aff">1</xref>
<xref rid="cor2" ref-type="corresp">∗∗</xref>
</contrib>
</contrib-group>
<aff id="aff1"><label>1</label>
INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</aff>
<aff id="aff2"><label>2</label>
INSERM, U983, Paris Descartes University, 75015 Paris, France</aff>
<aff id="aff3"><label>3</label>
Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, NSW 2145, Australia</aff>
<aff id="aff4"><label>4</label>
Division of Pediatric Neurology, College of Medicine, King Saud University, Riyadh 11461, Saudi Arabia</aff>
<aff id="aff5"><label>5</label>
Centre d'Exploration et de Ressources Thérapeutiques en Ophtalmologie (CERTO), 75015 Paris, France</aff>
<aff id="aff6"><label>6</label>
Department of Ophthalmology, Paris Descartes University, 75015 Paris, France</aff>
<aff id="aff7"><label>7</label>
Department of Ophthalmology, Coimbra University Hospital, 3000-548 Coimbra, Portugal</aff>
<aff id="aff8"><label>8</label>
Department of Nephrology, Centre Hospitalier Universitaire (CHU) Robert Debré, 75019 Paris, France</aff>
<aff id="aff9"><label>9</label>
Department of Genetics, Radboud University Nijmegen Medical Centre, 6525 GA, Nijmegen, The Netherlands</aff>
<aff id="aff10"><label>10</label>
Clinical Genetics Service, City Hospital, Nottingham NG5 1PB, UK</aff>
<aff id="aff11"><label>11</label>
Department of Pediatrics, American Memorial Hospital, CHU Reims, 51092 Reims Cedex, France</aff>
<aff id="aff12"><label>12</label>
Department of Genetics, CHU Robert Debré, 75019 Paris, France</aff>
<aff id="aff13"><label>13</label>
Genomics Platform,<italic>Imagine</italic>
Foundation and Paris Descartes University, 75015 Paris, France</aff>
<aff id="aff14"><label>14</label>
Bioinformatics Platform, Paris Descartes University, 75015 Paris, France</aff>
<aff id="aff15"><label>15</label>
Molecular Medicine Unit, University College London (UCL) Institute of Child Health, London WC1N 1EH, UK</aff>
<author-notes><corresp id="cor1"><label>∗</label>
Corresponding author <email>josseline.kaplan@inserm.fr</email>
</corresp>
<corresp id="cor2"><label>∗∗</label>
Corresponding author <email>jean-michel.rozet@inserm.fr</email>
</corresp>
<fn id="fn1"><label>16</label>
<p>These authors contributed equally to this work</p>
</fn>
</author-notes>
<pub-date pub-type="ppub"><day>04</day>
<month>5</month>
<year>2012</year>
</pub-date>
<volume>90</volume>
<issue>5</issue>
<fpage>864</fpage>
<lpage>870</lpage>
<history><date date-type="received"><day>4</day>
<month>1</month>
<year>2012</year>
</date>
<date date-type="rev-recd"><day>1</day>
<month>2</month>
<year>2012</year>
</date>
<date date-type="accepted"><day>9</day>
<month>3</month>
<year>2012</year>
</date>
</history>
<permissions><copyright-statement>© 2012 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved.</copyright-statement>
<copyright-year>2012</copyright-year>
<copyright-holder>The American Society of Human Genetics</copyright-holder>
</permissions>
<abstract><p>Mainzer-Saldino syndrome (MSS) is a rare disorder characterized by phalangeal cone-shaped epiphyses, chronic renal failure, and early-onset, severe retinal dystrophy. Through a combination of ciliome resequencing and Sanger sequencing, we identified <italic>IFT140</italic>
mutations in six MSS families and in a family with the clinically overlapping Jeune syndrome. IFT140 is one of the six currently known components of the intraflagellar transport complex A (IFT-A) that regulates retrograde protein transport in ciliated cells. Ciliary abundance and localization of anterograde IFTs were altered in fibroblasts of affected individuals, a result that supports the pivotal role of IFT140 in proper development and function of ciliated cells.</p>
</abstract>
</article-meta>
</front>
</pmc>
</record>
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