New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update
Identifieur interne : 000049 ( Pmc/Corpus ); précédent : 000048; suivant : 000050New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update
Auteurs : Claire Laure Navarro ; Vera Esteves-Vieira ; Sébastien Courrier ; Amandine Boyer ; Thuy Duong Nguyen ; Le Thi Thanh Huong ; Peter Meinke ; Winnie Schröder ; Valérie Cormier-Daire ; Yves Sznajer ; David J. Amor ; Kristina Lagerstedt ; Martine Biervliet ; Peter C. Van Den Akker ; Pierre Cau ; Patrice Roll ; Nicolas Lévy ; Catherine Badens ; Manfred Wehnert ; Annachiara De Sandre-GiovannoliSource :
- European Journal of Human Genetics [ 1018-4813 ] ; 2013.
Abstract
Restrictive dermopathy (RD) is a rare and extremely severe congenital genodermatosis, characterized by a tight rigid skin with erosions at flexure sites, multiple joint contractures, low bone density and pulmonary insufficiency generally leading to death in the perinatal period. RD is caused in most patients by compound heterozygous or homozygous
Url:
DOI: 10.1038/ejhg.2013.258
PubMed: 24169522
PubMed Central: 4350588
Links to Exploration step
PMC:4350588Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">New <italic>ZMPSTE24</italic>
(<italic>FACE1</italic>
) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update</title>
<author><name sortKey="Navarro, Claire Laure" sort="Navarro, Claire Laure" uniqKey="Navarro C" first="Claire Laure" last="Navarro">Claire Laure Navarro</name>
<affiliation><nlm:aff id="aff1"><institution>Inserm, UMR_S 910</institution>
, Marseille,<country>France</country>
</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff2"><institution>Aix Marseille Université, GMGF</institution>
, Marseille,<country>France</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Esteves Vieira, Vera" sort="Esteves Vieira, Vera" uniqKey="Esteves Vieira V" first="Vera" last="Esteves-Vieira">Vera Esteves-Vieira</name>
<affiliation><nlm:aff id="aff3"><institution>Laboratory of Molecular Genetics, Medical Genetics Department, La Timone Children's Hospital</institution>
, Marseille,<country>France</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Courrier, Sebastien" sort="Courrier, Sebastien" uniqKey="Courrier S" first="Sébastien" last="Courrier">Sébastien Courrier</name>
<affiliation><nlm:aff id="aff1"><institution>Inserm, UMR_S 910</institution>
, Marseille,<country>France</country>
</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff2"><institution>Aix Marseille Université, GMGF</institution>
, Marseille,<country>France</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Boyer, Amandine" sort="Boyer, Amandine" uniqKey="Boyer A" first="Amandine" last="Boyer">Amandine Boyer</name>
<affiliation><nlm:aff id="aff3"><institution>Laboratory of Molecular Genetics, Medical Genetics Department, La Timone Children's Hospital</institution>
, Marseille,<country>France</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Duong Nguyen, Thuy" sort="Duong Nguyen, Thuy" uniqKey="Duong Nguyen T" first="Thuy" last="Duong Nguyen">Thuy Duong Nguyen</name>
<affiliation><nlm:aff id="aff4"><institution>Institute of Human Genetics and Interfaculty Institute of Genetics and Functional Genomics, Department of University Medicine, Ernst-Moritz-Arndt University</institution>
, Greifswald,<country>Germany</country>
</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff5"><institution>Institute of Genome Research (IGR), Vietnam Academy of Science and Technology (VAST)</institution>
, Hà Nô̇i,<country>Vietnam</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Huong, Le Thi Thanh" sort="Huong, Le Thi Thanh" uniqKey="Huong L" first="Le Thi Thanh" last="Huong">Le Thi Thanh Huong</name>
<affiliation><nlm:aff id="aff4"><institution>Institute of Human Genetics and Interfaculty Institute of Genetics and Functional Genomics, Department of University Medicine, Ernst-Moritz-Arndt University</institution>
, Greifswald,<country>Germany</country>
</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff6"><institution>National Institute of Hygiene and Epidemiology</institution>
, Hà Nô̇i,<country>Vietnam</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Meinke, Peter" sort="Meinke, Peter" uniqKey="Meinke P" first="Peter" last="Meinke">Peter Meinke</name>
<affiliation><nlm:aff id="aff4"><institution>Institute of Human Genetics and Interfaculty Institute of Genetics and Functional Genomics, Department of University Medicine, Ernst-Moritz-Arndt University</institution>
, Greifswald,<country>Germany</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Schroder, Winnie" sort="Schroder, Winnie" uniqKey="Schroder W" first="Winnie" last="Schröder">Winnie Schröder</name>
<affiliation><nlm:aff id="aff4"><institution>Institute of Human Genetics and Interfaculty Institute of Genetics and Functional Genomics, Department of University Medicine, Ernst-Moritz-Arndt University</institution>
, Greifswald,<country>Germany</country>
</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="aff7"><institution>Inserm/Université U 781, Hôpital Necker—Enfants Malades</institution>
, Paris,<country>France</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Sznajer, Yves" sort="Sznajer, Yves" uniqKey="Sznajer Y" first="Yves" last="Sznajer">Yves Sznajer</name>
<affiliation><nlm:aff id="aff8"><institution>Center for Human Genetics, Cliniques Universitaires St-Luc, U.C.L</institution>
, Bruxelles,<country>Belgique</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Amor, David J" sort="Amor, David J" uniqKey="Amor D" first="David J" last="Amor">David J. Amor</name>
<affiliation><nlm:aff id="aff9"><institution>Murdoch Childrens Research Institute, Royal Children's Hospital</institution>
, Parkville, VIC,<country>Australia</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Lagerstedt, Kristina" sort="Lagerstedt, Kristina" uniqKey="Lagerstedt K" first="Kristina" last="Lagerstedt">Kristina Lagerstedt</name>
<affiliation><nlm:aff id="aff10"><institution>Department of Clinical Genetics, Karolinska University Hospital</institution>
, Stockholm,<country>Sweden</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Biervliet, Martine" sort="Biervliet, Martine" uniqKey="Biervliet M" first="Martine" last="Biervliet">Martine Biervliet</name>
<affiliation><nlm:aff id="aff11"><institution>Department of Medical Genetics, University Hospital Antwerp</institution>
, Antwerp,<country>Belgium</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Van Den Akker, Peter C" sort="Van Den Akker, Peter C" uniqKey="Van Den Akker P" first="Peter C" last="Van Den Akker">Peter C. Van Den Akker</name>
<affiliation><nlm:aff id="aff12"><institution>Department of Genetics, University of Groningen, University Medical Center Groningen</institution>
, Groningen,<country>The Netherlands</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Cau, Pierre" sort="Cau, Pierre" uniqKey="Cau P" first="Pierre" last="Cau">Pierre Cau</name>
<affiliation><nlm:aff id="aff1"><institution>Inserm, UMR_S 910</institution>
, Marseille,<country>France</country>
</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff2"><institution>Aix Marseille Université, GMGF</institution>
, Marseille,<country>France</country>
</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff13"><institution>Laboratory of Cellular Biology, Medical Genetics Department, La Timone Children's Hospital</institution>
, Marseille,<country>France</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Roll, Patrice" sort="Roll, Patrice" uniqKey="Roll P" first="Patrice" last="Roll">Patrice Roll</name>
<affiliation><nlm:aff id="aff1"><institution>Inserm, UMR_S 910</institution>
, Marseille,<country>France</country>
</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff2"><institution>Aix Marseille Université, GMGF</institution>
, Marseille,<country>France</country>
</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff13"><institution>Laboratory of Cellular Biology, Medical Genetics Department, La Timone Children's Hospital</institution>
, Marseille,<country>France</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Levy, Nicolas" sort="Levy, Nicolas" uniqKey="Levy N" first="Nicolas" last="Lévy">Nicolas Lévy</name>
<affiliation><nlm:aff id="aff1"><institution>Inserm, UMR_S 910</institution>
, Marseille,<country>France</country>
</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff2"><institution>Aix Marseille Université, GMGF</institution>
, Marseille,<country>France</country>
</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff3"><institution>Laboratory of Molecular Genetics, Medical Genetics Department, La Timone Children's Hospital</institution>
, Marseille,<country>France</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Badens, Catherine" sort="Badens, Catherine" uniqKey="Badens C" first="Catherine" last="Badens">Catherine Badens</name>
<affiliation><nlm:aff id="aff1"><institution>Inserm, UMR_S 910</institution>
, Marseille,<country>France</country>
</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff2"><institution>Aix Marseille Université, GMGF</institution>
, Marseille,<country>France</country>
</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff3"><institution>Laboratory of Molecular Genetics, Medical Genetics Department, La Timone Children's Hospital</institution>
, Marseille,<country>France</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Wehnert, Manfred" sort="Wehnert, Manfred" uniqKey="Wehnert M" first="Manfred" last="Wehnert">Manfred Wehnert</name>
<affiliation><nlm:aff id="aff4"><institution>Institute of Human Genetics and Interfaculty Institute of Genetics and Functional Genomics, Department of University Medicine, Ernst-Moritz-Arndt University</institution>
, Greifswald,<country>Germany</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="De Sandre Giovannoli, Annachiara" sort="De Sandre Giovannoli, Annachiara" uniqKey="De Sandre Giovannoli A" first="Annachiara" last="De Sandre-Giovannoli">Annachiara De Sandre-Giovannoli</name>
<affiliation><nlm:aff id="aff1"><institution>Inserm, UMR_S 910</institution>
, Marseille,<country>France</country>
</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff2"><institution>Aix Marseille Université, GMGF</institution>
, Marseille,<country>France</country>
</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff3"><institution>Laboratory of Molecular Genetics, Medical Genetics Department, La Timone Children's Hospital</institution>
, Marseille,<country>France</country>
</nlm:aff>
</affiliation>
</author>
</titleStmt>
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<date when="2013">2013</date>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">New <italic>ZMPSTE24</italic>
(<italic>FACE1</italic>
) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update</title>
<author><name sortKey="Navarro, Claire Laure" sort="Navarro, Claire Laure" uniqKey="Navarro C" first="Claire Laure" last="Navarro">Claire Laure Navarro</name>
<affiliation><nlm:aff id="aff1"><institution>Inserm, UMR_S 910</institution>
, Marseille,<country>France</country>
</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff2"><institution>Aix Marseille Université, GMGF</institution>
, Marseille,<country>France</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Esteves Vieira, Vera" sort="Esteves Vieira, Vera" uniqKey="Esteves Vieira V" first="Vera" last="Esteves-Vieira">Vera Esteves-Vieira</name>
<affiliation><nlm:aff id="aff3"><institution>Laboratory of Molecular Genetics, Medical Genetics Department, La Timone Children's Hospital</institution>
, Marseille,<country>France</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Courrier, Sebastien" sort="Courrier, Sebastien" uniqKey="Courrier S" first="Sébastien" last="Courrier">Sébastien Courrier</name>
<affiliation><nlm:aff id="aff1"><institution>Inserm, UMR_S 910</institution>
, Marseille,<country>France</country>
</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff2"><institution>Aix Marseille Université, GMGF</institution>
, Marseille,<country>France</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Boyer, Amandine" sort="Boyer, Amandine" uniqKey="Boyer A" first="Amandine" last="Boyer">Amandine Boyer</name>
<affiliation><nlm:aff id="aff3"><institution>Laboratory of Molecular Genetics, Medical Genetics Department, La Timone Children's Hospital</institution>
, Marseille,<country>France</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Duong Nguyen, Thuy" sort="Duong Nguyen, Thuy" uniqKey="Duong Nguyen T" first="Thuy" last="Duong Nguyen">Thuy Duong Nguyen</name>
<affiliation><nlm:aff id="aff4"><institution>Institute of Human Genetics and Interfaculty Institute of Genetics and Functional Genomics, Department of University Medicine, Ernst-Moritz-Arndt University</institution>
, Greifswald,<country>Germany</country>
</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff5"><institution>Institute of Genome Research (IGR), Vietnam Academy of Science and Technology (VAST)</institution>
, Hà Nô̇i,<country>Vietnam</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Huong, Le Thi Thanh" sort="Huong, Le Thi Thanh" uniqKey="Huong L" first="Le Thi Thanh" last="Huong">Le Thi Thanh Huong</name>
<affiliation><nlm:aff id="aff4"><institution>Institute of Human Genetics and Interfaculty Institute of Genetics and Functional Genomics, Department of University Medicine, Ernst-Moritz-Arndt University</institution>
, Greifswald,<country>Germany</country>
</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff6"><institution>National Institute of Hygiene and Epidemiology</institution>
, Hà Nô̇i,<country>Vietnam</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Meinke, Peter" sort="Meinke, Peter" uniqKey="Meinke P" first="Peter" last="Meinke">Peter Meinke</name>
<affiliation><nlm:aff id="aff4"><institution>Institute of Human Genetics and Interfaculty Institute of Genetics and Functional Genomics, Department of University Medicine, Ernst-Moritz-Arndt University</institution>
, Greifswald,<country>Germany</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Schroder, Winnie" sort="Schroder, Winnie" uniqKey="Schroder W" first="Winnie" last="Schröder">Winnie Schröder</name>
<affiliation><nlm:aff id="aff4"><institution>Institute of Human Genetics and Interfaculty Institute of Genetics and Functional Genomics, Department of University Medicine, Ernst-Moritz-Arndt University</institution>
, Greifswald,<country>Germany</country>
</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="aff7"><institution>Inserm/Université U 781, Hôpital Necker—Enfants Malades</institution>
, Paris,<country>France</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Sznajer, Yves" sort="Sznajer, Yves" uniqKey="Sznajer Y" first="Yves" last="Sznajer">Yves Sznajer</name>
<affiliation><nlm:aff id="aff8"><institution>Center for Human Genetics, Cliniques Universitaires St-Luc, U.C.L</institution>
, Bruxelles,<country>Belgique</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Amor, David J" sort="Amor, David J" uniqKey="Amor D" first="David J" last="Amor">David J. Amor</name>
<affiliation><nlm:aff id="aff9"><institution>Murdoch Childrens Research Institute, Royal Children's Hospital</institution>
, Parkville, VIC,<country>Australia</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Lagerstedt, Kristina" sort="Lagerstedt, Kristina" uniqKey="Lagerstedt K" first="Kristina" last="Lagerstedt">Kristina Lagerstedt</name>
<affiliation><nlm:aff id="aff10"><institution>Department of Clinical Genetics, Karolinska University Hospital</institution>
, Stockholm,<country>Sweden</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Biervliet, Martine" sort="Biervliet, Martine" uniqKey="Biervliet M" first="Martine" last="Biervliet">Martine Biervliet</name>
<affiliation><nlm:aff id="aff11"><institution>Department of Medical Genetics, University Hospital Antwerp</institution>
, Antwerp,<country>Belgium</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Van Den Akker, Peter C" sort="Van Den Akker, Peter C" uniqKey="Van Den Akker P" first="Peter C" last="Van Den Akker">Peter C. Van Den Akker</name>
<affiliation><nlm:aff id="aff12"><institution>Department of Genetics, University of Groningen, University Medical Center Groningen</institution>
, Groningen,<country>The Netherlands</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Cau, Pierre" sort="Cau, Pierre" uniqKey="Cau P" first="Pierre" last="Cau">Pierre Cau</name>
<affiliation><nlm:aff id="aff1"><institution>Inserm, UMR_S 910</institution>
, Marseille,<country>France</country>
</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff2"><institution>Aix Marseille Université, GMGF</institution>
, Marseille,<country>France</country>
</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff13"><institution>Laboratory of Cellular Biology, Medical Genetics Department, La Timone Children's Hospital</institution>
, Marseille,<country>France</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Roll, Patrice" sort="Roll, Patrice" uniqKey="Roll P" first="Patrice" last="Roll">Patrice Roll</name>
<affiliation><nlm:aff id="aff1"><institution>Inserm, UMR_S 910</institution>
, Marseille,<country>France</country>
</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff2"><institution>Aix Marseille Université, GMGF</institution>
, Marseille,<country>France</country>
</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff13"><institution>Laboratory of Cellular Biology, Medical Genetics Department, La Timone Children's Hospital</institution>
, Marseille,<country>France</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Levy, Nicolas" sort="Levy, Nicolas" uniqKey="Levy N" first="Nicolas" last="Lévy">Nicolas Lévy</name>
<affiliation><nlm:aff id="aff1"><institution>Inserm, UMR_S 910</institution>
, Marseille,<country>France</country>
</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff2"><institution>Aix Marseille Université, GMGF</institution>
, Marseille,<country>France</country>
</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff3"><institution>Laboratory of Molecular Genetics, Medical Genetics Department, La Timone Children's Hospital</institution>
, Marseille,<country>France</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Badens, Catherine" sort="Badens, Catherine" uniqKey="Badens C" first="Catherine" last="Badens">Catherine Badens</name>
<affiliation><nlm:aff id="aff1"><institution>Inserm, UMR_S 910</institution>
, Marseille,<country>France</country>
</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff2"><institution>Aix Marseille Université, GMGF</institution>
, Marseille,<country>France</country>
</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff3"><institution>Laboratory of Molecular Genetics, Medical Genetics Department, La Timone Children's Hospital</institution>
, Marseille,<country>France</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Wehnert, Manfred" sort="Wehnert, Manfred" uniqKey="Wehnert M" first="Manfred" last="Wehnert">Manfred Wehnert</name>
<affiliation><nlm:aff id="aff4"><institution>Institute of Human Genetics and Interfaculty Institute of Genetics and Functional Genomics, Department of University Medicine, Ernst-Moritz-Arndt University</institution>
, Greifswald,<country>Germany</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="De Sandre Giovannoli, Annachiara" sort="De Sandre Giovannoli, Annachiara" uniqKey="De Sandre Giovannoli A" first="Annachiara" last="De Sandre-Giovannoli">Annachiara De Sandre-Giovannoli</name>
<affiliation><nlm:aff id="aff1"><institution>Inserm, UMR_S 910</institution>
, Marseille,<country>France</country>
</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff2"><institution>Aix Marseille Université, GMGF</institution>
, Marseille,<country>France</country>
</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff3"><institution>Laboratory of Molecular Genetics, Medical Genetics Department, La Timone Children's Hospital</institution>
, Marseille,<country>France</country>
</nlm:aff>
</affiliation>
</author>
</analytic>
<series><title level="j">European Journal of Human Genetics</title>
<idno type="ISSN">1018-4813</idno>
<idno type="eISSN">1476-5438</idno>
<imprint><date when="2013">2013</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>Restrictive dermopathy (RD) is a rare and extremely severe congenital genodermatosis, characterized by a tight rigid skin with erosions at flexure sites, multiple joint contractures, low bone density and pulmonary insufficiency generally leading to death in the perinatal period. RD is caused in most patients by compound heterozygous or homozygous <italic>ZMPSTE24</italic>
null mutations. This gene encodes a metalloprotease specifically involved in lamin A post-translational processing. Here, we report a total of 16 families for whom diagnosis and molecular defects were clearly established. Among them, we report seven new <italic>ZMPSTE24</italic>
mutations, identified in classical RD or Mandibulo-acral dysplasia (MAD) affected patients. We also report nine families with one or two affected children carrying the common, homozygous thymine insertion in exon 9 and demonstrate the lack of a founder effect. In addition, we describe several new <italic>ZMPSTE24</italic>
variants identified in unaffected controls or in patients affected with non-classical progeroid syndromes. In addition, this mutation update includes a comprehensive search of the literature on previously described <italic>ZMPSTE24</italic>
mutations and associated phenotypes. Our comprehensive analysis of the molecular pathology supported the general rule: complete loss-of-function of ZMPSTE24 leads to RD, whereas other less severe phenotypes are associated with at least one haploinsufficient allele.</p>
</div>
</front>
</TEI>
<pmc article-type="research-article"><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">Eur J Hum Genet</journal-id>
<journal-id journal-id-type="iso-abbrev">Eur. J. Hum. Genet</journal-id>
<journal-title-group><journal-title>European Journal of Human Genetics</journal-title>
</journal-title-group>
<issn pub-type="ppub">1018-4813</issn>
<issn pub-type="epub">1476-5438</issn>
<publisher><publisher-name>Nature Publishing Group</publisher-name>
</publisher>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">24169522</article-id>
<article-id pub-id-type="pmc">4350588</article-id>
<article-id pub-id-type="pii">ejhg2013258</article-id>
<article-id pub-id-type="doi">10.1038/ejhg.2013.258</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Article</subject>
</subj-group>
</article-categories>
<title-group><article-title>New <italic>ZMPSTE24</italic>
(<italic>FACE1</italic>
) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update</article-title>
<alt-title alt-title-type="running">New ZMPSTE24 mutations in progeroid syndromes</alt-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Navarro</surname>
<given-names>Claire Laure</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
<xref ref-type="aff" rid="aff2">2</xref>
<xref ref-type="corresp" rid="caf1">*</xref>
<contrib-id contrib-id-type="orcid">http://orcid.org/0000-0001-9490-2643</contrib-id>
</contrib>
<contrib contrib-type="author"><name><surname>Esteves-Vieira</surname>
<given-names>Vera</given-names>
</name>
<xref ref-type="aff" rid="aff3">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Courrier</surname>
<given-names>Sébastien</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
<xref ref-type="aff" rid="aff2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Boyer</surname>
<given-names>Amandine</given-names>
</name>
<xref ref-type="aff" rid="aff3">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Duong Nguyen</surname>
<given-names>Thuy</given-names>
</name>
<xref ref-type="aff" rid="aff4">4</xref>
<xref ref-type="aff" rid="aff5">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Huong</surname>
<given-names>Le Thi Thanh</given-names>
</name>
<xref ref-type="aff" rid="aff4">4</xref>
<xref ref-type="aff" rid="aff6">6</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Meinke</surname>
<given-names>Peter</given-names>
</name>
<xref ref-type="aff" rid="aff4">4</xref>
<xref ref-type="author-notes" rid="note1"><sup>14</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Schröder</surname>
<given-names>Winnie</given-names>
</name>
<xref ref-type="aff" rid="aff4">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Cormier-Daire</surname>
<given-names>Valérie</given-names>
</name>
<xref ref-type="aff" rid="aff7">7</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Sznajer</surname>
<given-names>Yves</given-names>
</name>
<xref ref-type="aff" rid="aff8">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Amor</surname>
<given-names>David J</given-names>
</name>
<xref ref-type="aff" rid="aff9">9</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Lagerstedt</surname>
<given-names>Kristina</given-names>
</name>
<xref ref-type="aff" rid="aff10">10</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Biervliet</surname>
<given-names>Martine</given-names>
</name>
<xref ref-type="aff" rid="aff11">11</xref>
</contrib>
<contrib contrib-type="author"><name><surname>van den Akker</surname>
<given-names>Peter C</given-names>
</name>
<xref ref-type="aff" rid="aff12">12</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Cau</surname>
<given-names>Pierre</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
<xref ref-type="aff" rid="aff2">2</xref>
<xref ref-type="aff" rid="aff13">13</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Roll</surname>
<given-names>Patrice</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
<xref ref-type="aff" rid="aff2">2</xref>
<xref ref-type="aff" rid="aff13">13</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Lévy</surname>
<given-names>Nicolas</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
<xref ref-type="aff" rid="aff2">2</xref>
<xref ref-type="aff" rid="aff3">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Badens</surname>
<given-names>Catherine</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
<xref ref-type="aff" rid="aff2">2</xref>
<xref ref-type="aff" rid="aff3">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Wehnert</surname>
<given-names>Manfred</given-names>
</name>
<xref ref-type="aff" rid="aff4">4</xref>
<xref ref-type="author-notes" rid="note2"><sup>15</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>De Sandre-Giovannoli</surname>
<given-names>Annachiara</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
<xref ref-type="aff" rid="aff2">2</xref>
<xref ref-type="aff" rid="aff3">3</xref>
</contrib>
<aff id="aff1"><label>1</label>
<institution>Inserm, UMR_S 910</institution>
, Marseille,<country>France</country>
</aff>
<aff id="aff2"><label>2</label>
<institution>Aix Marseille Université, GMGF</institution>
, Marseille,<country>France</country>
</aff>
<aff id="aff3"><label>3</label>
<institution>Laboratory of Molecular Genetics, Medical Genetics Department, La Timone Children's Hospital</institution>
, Marseille,<country>France</country>
</aff>
<aff id="aff4"><label>4</label>
<institution>Institute of Human Genetics and Interfaculty Institute of Genetics and Functional Genomics, Department of University Medicine, Ernst-Moritz-Arndt University</institution>
, Greifswald,<country>Germany</country>
</aff>
<aff id="aff5"><label>5</label>
<institution>Institute of Genome Research (IGR), Vietnam Academy of Science and Technology (VAST)</institution>
, Hà Nô̇i,<country>Vietnam</country>
</aff>
<aff id="aff6"><label>6</label>
<institution>National Institute of Hygiene and Epidemiology</institution>
, Hà Nô̇i,<country>Vietnam</country>
</aff>
<aff id="aff7"><label>7</label>
<institution>Inserm/Université U 781, Hôpital Necker—Enfants Malades</institution>
, Paris,<country>France</country>
</aff>
<aff id="aff8"><label>8</label>
<institution>Center for Human Genetics, Cliniques Universitaires St-Luc, U.C.L</institution>
, Bruxelles,<country>Belgique</country>
</aff>
<aff id="aff9"><label>9</label>
<institution>Murdoch Childrens Research Institute, Royal Children's Hospital</institution>
, Parkville, VIC,<country>Australia</country>
</aff>
<aff id="aff10"><label>10</label>
<institution>Department of Clinical Genetics, Karolinska University Hospital</institution>
, Stockholm,<country>Sweden</country>
</aff>
<aff id="aff11"><label>11</label>
<institution>Department of Medical Genetics, University Hospital Antwerp</institution>
, Antwerp,<country>Belgium</country>
</aff>
<aff id="aff12"><label>12</label>
<institution>Department of Genetics, University of Groningen, University Medical Center Groningen</institution>
, Groningen,<country>The Netherlands</country>
</aff>
<aff id="aff13"><label>13</label>
<institution>Laboratory of Cellular Biology, Medical Genetics Department, La Timone Children's Hospital</institution>
, Marseille,<country>France</country>
</aff>
</contrib-group>
<author-notes><corresp id="caf1"><label>*</label>
<institution>INSERM UMR_S 910, Génétique Médicale et Génomique Fonctionnelle, Faculté de Médecine de la Timone</institution>
, 5ème étage- Aile verte, 27 Boulevard Jean Moulin, 13385, Marseille Cedex 05, <country>France</country>
. Tel: +33 4 91 32 48 97; Fax: +33 4 91 43 29 90; E-mail: <email>claire.navarro@univ-amu.fr</email>
</corresp>
<fn fn-type="present-address" id="note1"><label>14</label>
<p>Current address: The Wellcome Trust Centre for Cell Biology, University of Edinburgh, Mayfield Road, Edinburgh, UK.</p>
</fn>
<fn fn-type="present-address" id="note2"><label>15</label>
<p>Retired.</p>
</fn>
</author-notes>
<pub-date pub-type="ppub"><month>08</month>
<year>2014</year>
</pub-date>
<pub-date pub-type="epub"><day>30</day>
<month>10</month>
<year>2013</year>
</pub-date>
<volume>22</volume>
<issue>8</issue>
<fpage>1002</fpage>
<lpage>1011</lpage>
<history><date date-type="received"><day>02</day>
<month>07</month>
<year>2013</year>
</date>
<date date-type="rev-recd"><day>20</day>
<month>09</month>
<year>2013</year>
</date>
<date date-type="accepted"><day>27</day>
<month>09</month>
<year>2013</year>
</date>
</history>
<permissions><copyright-statement>Copyright © 2014 Macmillan Publishers Limited</copyright-statement>
<copyright-year>2014</copyright-year>
<copyright-holder>Macmillan Publishers Limited</copyright-holder>
</permissions>
<abstract><p>Restrictive dermopathy (RD) is a rare and extremely severe congenital genodermatosis, characterized by a tight rigid skin with erosions at flexure sites, multiple joint contractures, low bone density and pulmonary insufficiency generally leading to death in the perinatal period. RD is caused in most patients by compound heterozygous or homozygous <italic>ZMPSTE24</italic>
null mutations. This gene encodes a metalloprotease specifically involved in lamin A post-translational processing. Here, we report a total of 16 families for whom diagnosis and molecular defects were clearly established. Among them, we report seven new <italic>ZMPSTE24</italic>
mutations, identified in classical RD or Mandibulo-acral dysplasia (MAD) affected patients. We also report nine families with one or two affected children carrying the common, homozygous thymine insertion in exon 9 and demonstrate the lack of a founder effect. In addition, we describe several new <italic>ZMPSTE24</italic>
variants identified in unaffected controls or in patients affected with non-classical progeroid syndromes. In addition, this mutation update includes a comprehensive search of the literature on previously described <italic>ZMPSTE24</italic>
mutations and associated phenotypes. Our comprehensive analysis of the molecular pathology supported the general rule: complete loss-of-function of ZMPSTE24 leads to RD, whereas other less severe phenotypes are associated with at least one haploinsufficient allele.</p>
</abstract>
<kwd-group><kwd><italic>ZMPSTE24</italic>
</kwd>
<kwd>restrictive dermopathy</kwd>
<kwd>Mandibulo-acral dysplasia</kwd>
<kwd>progeroid syndromes</kwd>
<kwd>prelamin A maturation</kwd>
</kwd-group>
</article-meta>
</front>
</pmc>
</record>
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