Mutations in FAM111B Cause Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis
Identifieur interne : 000157 ( France/Analysis ); précédent : 000156; suivant : 000158Mutations in FAM111B Cause Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis
Auteurs : Sandra Mercier [France] ; Sébastien Küry [France] ; Gasnat Shaboodien [Afrique du Sud] ; Darren T. Houniet [Royaume-Uni] ; Nonhlanhla P. Khumalo [Afrique du Sud] ; Chantal Bou-Hanna [France] ; Nathalie Bodak [France] ; Valérie Cormier-Daire [France] ; Albert David [France] ; Laurence Faivre [France] ; Dominique Figarella-Branger [France] ; Romain K. Gherardi [France] ; Elise Glen [Royaume-Uni] ; Antoine Hamel [France] ; Christian Laboisse [France] ; Cédric Le Caignec [France] ; Pierre Lindenbaum [France] ; Armelle Magot [France] ; Arnold Munnich [France] ; Jean-Marie Mussini [France] ; Komala Pillay [Afrique du Sud] ; Thahira Rahman [Royaume-Uni] ; Richard Redon [France] ; Emmanuelle Salort-Campana [France] ; Mauro Santibanez-Koref [Royaume-Uni] ; Christel Thauvin [France] ; Sébastien Barbarot [France] ; Bernard Keavney [Royaume-Uni] ; Stéphane Bézieau [France] ; Bongani M. Mayosi [Afrique du Sud]Source :
- American Journal of Human Genetics [ 0002-9297 ] ; 2013.
Abstract
Congenital poikiloderma is characterized by a combination of mottled pigmentation, telangiectasia, and epidermal atrophy in the first few months of life. We have previously described a South African European-descent family affected by a rare autosomal-dominant form of hereditary fibrosing poikiloderma accompanied by tendon contracture, myopathy, and pulmonary fibrosis. Here, we report the identification of causative mutations in
Url:
DOI: 10.1016/j.ajhg.2013.10.013
PubMed: 24268661
PubMed Central: 3853004
Affiliations:
- Afrique du Sud, France, Royaume-Uni
- Angleterre, Grand Manchester, Pays de la Loire, Provence-Alpes-Côte d'Azur, Région Bourgogne, Île-de-France
- Dijon, Manchester, Marseille, Nantes, Paris
- Université de Bourgogne, Université de Manchester, Université de Nantes
Links toward previous steps (curation, corpus...)
- to stream Pmc, to step Corpus: 001E55
- to stream Pmc, to step Curation: 001E54
- to stream Pmc, to step Checkpoint: 002133
- to stream Ncbi, to step Merge: 005F81
- to stream Ncbi, to step Curation: 005F81
- to stream Ncbi, to step Checkpoint: 005F81
- to stream Main, to step Merge: 003379
- to stream Main, to step Curation: 003373
- to stream Main, to step Exploration: 003373
- to stream France, to step Extraction: 000157
Links to Exploration step
PMC:3853004Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Mutations in <italic>FAM111B</italic> Cause Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis</title><author><name sortKey="Mercier, Sandra" sort="Mercier, Sandra" uniqKey="Mercier S" first="Sandra" last="Mercier">Sandra Mercier</name><affiliation wicri:level="1"><nlm:aff id="aff1">Unité de Génétique Clinique, Service de Génétique Médicale, Centre de Référence Anomalies de Développement et Syndromes Malformatifs de l’Interrégion Grand-Ouest, Centre Hospitalier Universitaire Nantes, 9 Quai Moncousu, 44093 Nantes Cedex 1, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Unité de Génétique Clinique, Service de Génétique Médicale, Centre de Référence Anomalies de Développement et Syndromes Malformatifs de l’Interrégion Grand-Ouest, Centre Hospitalier Universitaire Nantes, 9 Quai Moncousu, 44093 Nantes Cedex 1</wicri:regionArea><wicri:noRegion>44093 Nantes Cedex 1</wicri:noRegion><wicri:noRegion>44093 Nantes Cedex 1</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aff2">Institut National de la Santé et de la Recherche Médicale UMR 1089, Atlantic Gene Therapy Institute, University of Nantes, 44007 Nantes, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut National de la Santé et de la Recherche Médicale UMR 1089, Atlantic Gene Therapy Institute, University of Nantes, 44007 Nantes</wicri:regionArea><wicri:noRegion>44007 Nantes</wicri:noRegion><wicri:noRegion>44007 Nantes</wicri:noRegion></affiliation></author><author><name sortKey="Kury, Sebastien" sort="Kury, Sebastien" uniqKey="Kury S" first="Sébastien" last="Küry">Sébastien Küry</name><affiliation wicri:level="1"><nlm:aff id="aff3">Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, 9 Quai Moncousu, 44093 Nantes Cedex 1, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, 9 Quai Moncousu, 44093 Nantes Cedex 1</wicri:regionArea><wicri:noRegion>44093 Nantes Cedex 1</wicri:noRegion><wicri:noRegion>44093 Nantes Cedex 1</wicri:noRegion></affiliation></author><author><name sortKey="Shaboodien, Gasnat" sort="Shaboodien, Gasnat" uniqKey="Shaboodien G" first="Gasnat" last="Shaboodien">Gasnat Shaboodien</name><affiliation wicri:level="1"><nlm:aff id="aff4">Cardiovascular Genetics Laboratory, Hatter Institute for Cardiovascular Research in Africa, Department of Medicine, Groote Schuur Hospital and University of Cape Town, 7925 Cape Town, South Africa</nlm:aff><country xml:lang="fr">Afrique du Sud</country><wicri:regionArea>Cardiovascular Genetics Laboratory, Hatter Institute for Cardiovascular Research in Africa, Department of Medicine, Groote Schuur Hospital and University of Cape Town, 7925 Cape Town</wicri:regionArea><wicri:noRegion>7925 Cape Town</wicri:noRegion></affiliation></author><author><name sortKey="Houniet, Darren T" sort="Houniet, Darren T" uniqKey="Houniet D" first="Darren T." last="Houniet">Darren T. Houniet</name><affiliation wicri:level="1"><nlm:aff id="aff5">Institute of Genetic Medicine, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne NE3 4DS, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Genetic Medicine, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne NE3 4DS</wicri:regionArea><wicri:noRegion>Newcastle upon Tyne NE3 4DS</wicri:noRegion></affiliation></author><author><name sortKey="Khumalo, Nonhlanhla P" sort="Khumalo, Nonhlanhla P" uniqKey="Khumalo N" first="Nonhlanhla P." last="Khumalo">Nonhlanhla P. Khumalo</name><affiliation wicri:level="1"><nlm:aff id="aff6">Division of Dermatology, Department of Medicine, Groote Schuur Hospital and University of Cape Town, 7925 Cape Town, South Africa</nlm:aff><country xml:lang="fr">Afrique du Sud</country><wicri:regionArea>Division of Dermatology, Department of Medicine, Groote Schuur Hospital and University of Cape Town, 7925 Cape Town</wicri:regionArea><wicri:noRegion>7925 Cape Town</wicri:noRegion></affiliation></author><author><name sortKey="Bou Hanna, Chantal" sort="Bou Hanna, Chantal" uniqKey="Bou Hanna C" first="Chantal" last="Bou-Hanna">Chantal Bou-Hanna</name><affiliation wicri:level="4"><nlm:aff id="aff7">Equipe d’Accueil 4273 Biometadys, Faculté de Médecine, Université de Nantes, 1 Rue Gaston Veil, 44035 Nantes, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Equipe d’Accueil 4273 Biometadys, Faculté de Médecine, Université de Nantes, 1 Rue Gaston Veil, 44035 Nantes</wicri:regionArea><wicri:noRegion>44035 Nantes</wicri:noRegion><orgName type="university">Université de Nantes</orgName><placeName><settlement type="city">Nantes</settlement><region type="region" nuts="2">Pays de la Loire</region></placeName></affiliation></author><author><name sortKey="Bodak, Nathalie" sort="Bodak, Nathalie" uniqKey="Bodak N" first="Nathalie" last="Bodak">Nathalie Bodak</name><affiliation wicri:level="1"><nlm:aff id="aff8">Service de Dermatologie, Hôpital Necker – Enfants Malades, Assistance Publique – Hôpitaux de Paris, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Dermatologie, Hôpital Necker – Enfants Malades, Assistance Publique – Hôpitaux de Paris, 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="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valérie" last="Cormier-Daire">Valérie Cormier-Daire</name><affiliation wicri:level="1"><nlm:aff id="aff9">Institut National de la Santé et de la Recherche Médicale U781, Service de Génétique, Université Paris Descartes – Sorbonne Paris Cité, Fondation Imagine, Hôpital Necker – Enfants Malades, Assistance Publique – Hôpitaux de Paris, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut National de la Santé et de la Recherche Médicale U781, Service de Génétique, Université Paris Descartes – Sorbonne Paris Cité, Fondation Imagine, Hôpital Necker – Enfants Malades, Assistance Publique – Hôpitaux de Paris, 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="David, Albert" sort="David, Albert" uniqKey="David A" first="Albert" last="David">Albert David</name><affiliation wicri:level="1"><nlm:aff id="aff1">Unité de Génétique Clinique, Service de Génétique Médicale, Centre de Référence Anomalies de Développement et Syndromes Malformatifs de l’Interrégion Grand-Ouest, Centre Hospitalier Universitaire Nantes, 9 Quai Moncousu, 44093 Nantes Cedex 1, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Unité de Génétique Clinique, Service de Génétique Médicale, Centre de Référence Anomalies de Développement et Syndromes Malformatifs de l’Interrégion Grand-Ouest, Centre Hospitalier Universitaire Nantes, 9 Quai Moncousu, 44093 Nantes Cedex 1</wicri:regionArea><wicri:noRegion>44093 Nantes Cedex 1</wicri:noRegion><wicri:noRegion>44093 Nantes Cedex 1</wicri:noRegion></affiliation></author><author><name sortKey="Faivre, Laurence" sort="Faivre, Laurence" uniqKey="Faivre L" first="Laurence" last="Faivre">Laurence Faivre</name><affiliation wicri:level="4"><nlm:aff id="aff10">Equipe d’Accueil 4271 Génétique des Anomalies du Développement, Institut Fédératif de Recherche 100 de la Santé et des Sciences et Techniques de l’Information et de Communication, Université de Bourgogne, 21078 Dijon, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Equipe d’Accueil 4271 Génétique des Anomalies du Développement, Institut Fédératif de Recherche 100 de la Santé et des Sciences et Techniques de l’Information et de Communication, Université de Bourgogne, 21078 Dijon</wicri:regionArea><wicri:noRegion>21078 Dijon</wicri:noRegion><orgName type="university">Université de Bourgogne</orgName><placeName><settlement type="city">Dijon</settlement><region type="region" nuts="2">Région Bourgogne</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="aff11">Centre de Référence Anomalies de Développement et Syndromes Malformatifs de l’Interrégion Grand-Est et Centre de Génétique, Hôpital d’Enfants, Centre Hospitalier Universitaire, 21079 Dijon, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Centre de Référence Anomalies de Développement et Syndromes Malformatifs de l’Interrégion Grand-Est et Centre de Génétique, Hôpital d’Enfants, Centre Hospitalier Universitaire, 21079 Dijon</wicri:regionArea><wicri:noRegion>21079 Dijon</wicri:noRegion><wicri:noRegion>21079 Dijon</wicri:noRegion></affiliation></author><author><name sortKey="Figarella Branger, Dominique" sort="Figarella Branger, Dominique" uniqKey="Figarella Branger D" first="Dominique" last="Figarella-Branger">Dominique Figarella-Branger</name><affiliation wicri:level="1"><nlm:aff id="aff12">Service d’Anatomopathologie et de Neuropathologie, Hôpital La Timone, 13000 Marseille, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service d’Anatomopathologie et de Neuropathologie, Hôpital La Timone, 13000 Marseille</wicri:regionArea><wicri:noRegion>13000 Marseille</wicri:noRegion><placeName><settlement type="city">Marseille</settlement><region type="région" nuts="2">Provence-Alpes-Côte d'Azur</region></placeName></affiliation></author><author><name sortKey="Gherardi, Romain K" sort="Gherardi, Romain K" uniqKey="Gherardi R" first="Romain K." last="Gherardi">Romain K. Gherardi</name><affiliation wicri:level="1"><nlm:aff id="aff13">Service d’Anatomopathologie, Hôpital Henri Mondor, 94010 Créteil, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service d’Anatomopathologie, Hôpital Henri Mondor, 94010 Créteil</wicri:regionArea><wicri:noRegion>94010 Créteil</wicri:noRegion><wicri:noRegion>94010 Créteil</wicri:noRegion></affiliation></author><author><name sortKey="Glen, Elise" sort="Glen, Elise" uniqKey="Glen E" first="Elise" last="Glen">Elise Glen</name><affiliation wicri:level="1"><nlm:aff id="aff5">Institute of Genetic Medicine, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne NE3 4DS, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Genetic Medicine, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne NE3 4DS</wicri:regionArea><wicri:noRegion>Newcastle upon Tyne NE3 4DS</wicri:noRegion></affiliation></author><author><name sortKey="Hamel, Antoine" sort="Hamel, Antoine" uniqKey="Hamel A" first="Antoine" last="Hamel">Antoine Hamel</name><affiliation wicri:level="1"><nlm:aff id="aff14">Service de Chirurgie Infantile, Centre Hospitalier Universitaire Nantes, 9 Quai Moncousu, 44093 Nantes Cedex 1, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Chirurgie Infantile, Centre Hospitalier Universitaire Nantes, 9 Quai Moncousu, 44093 Nantes Cedex 1</wicri:regionArea><wicri:noRegion>44093 Nantes Cedex 1</wicri:noRegion><wicri:noRegion>44093 Nantes Cedex 1</wicri:noRegion></affiliation></author><author><name sortKey="Laboisse, Christian" sort="Laboisse, Christian" uniqKey="Laboisse C" first="Christian" last="Laboisse">Christian Laboisse</name><affiliation wicri:level="4"><nlm:aff id="aff7">Equipe d’Accueil 4273 Biometadys, Faculté de Médecine, Université de Nantes, 1 Rue Gaston Veil, 44035 Nantes, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Equipe d’Accueil 4273 Biometadys, Faculté de Médecine, Université de Nantes, 1 Rue Gaston Veil, 44035 Nantes</wicri:regionArea><wicri:noRegion>44035 Nantes</wicri:noRegion><orgName type="university">Université de Nantes</orgName><placeName><settlement type="city">Nantes</settlement><region type="region" nuts="2">Pays de la Loire</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="aff15">Laboratoire d’Anatomopathologie A, Centre Hospitalier Universitaire Nantes, 44093 Nantes, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire d’Anatomopathologie A, Centre Hospitalier Universitaire Nantes, 44093 Nantes</wicri:regionArea><wicri:noRegion>44093 Nantes</wicri:noRegion><wicri:noRegion>44093 Nantes</wicri:noRegion></affiliation></author><author><name sortKey="Le Caignec, Cedric" sort="Le Caignec, Cedric" uniqKey="Le Caignec C" first="Cédric" last="Le Caignec">Cédric Le Caignec</name><affiliation wicri:level="1"><nlm:aff id="aff3">Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, 9 Quai Moncousu, 44093 Nantes Cedex 1, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, 9 Quai Moncousu, 44093 Nantes Cedex 1</wicri:regionArea><wicri:noRegion>44093 Nantes Cedex 1</wicri:noRegion><wicri:noRegion>44093 Nantes Cedex 1</wicri:noRegion></affiliation></author><author><name sortKey="Lindenbaum, Pierre" sort="Lindenbaum, Pierre" uniqKey="Lindenbaum P" first="Pierre" last="Lindenbaum">Pierre Lindenbaum</name><affiliation wicri:level="4"><nlm:aff id="aff16">Institut National de la Santé et de la Recherche Médicale UMR 1087, Centre National de la Recherche Scientifique UMR 6291, Université de Nantes, 44007 Nantes, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut National de la Santé et de la Recherche Médicale UMR 1087, Centre National de la Recherche Scientifique UMR 6291, Université de Nantes, 44007 Nantes</wicri:regionArea><wicri:noRegion>44007 Nantes</wicri:noRegion><orgName type="university">Université de Nantes</orgName><placeName><settlement type="city">Nantes</settlement><region type="region" nuts="2">Pays de la Loire</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="aff17">L’Institut du Thorax, Centre Hospitalier Universitaire Nantes, 44007 Nantes, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>L’Institut du Thorax, Centre Hospitalier Universitaire Nantes, 44007 Nantes</wicri:regionArea><wicri:noRegion>44007 Nantes</wicri:noRegion><wicri:noRegion>44007 Nantes</wicri:noRegion></affiliation></author><author><name sortKey="Magot, Armelle" sort="Magot, Armelle" uniqKey="Magot A" first="Armelle" last="Magot">Armelle Magot</name><affiliation wicri:level="1"><nlm:aff id="aff18">Service des Explorations fonctionnelles, Centre de Référence des Maladies Neuromusculaires, Centre Hospitalier Universitaire Nantes, 9 Quai Moncousu, 44093 Nantes Cedex 1, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service des Explorations fonctionnelles, Centre de Référence des Maladies Neuromusculaires, Centre Hospitalier Universitaire Nantes, 9 Quai Moncousu, 44093 Nantes Cedex 1</wicri:regionArea><wicri:noRegion>44093 Nantes Cedex 1</wicri:noRegion><wicri:noRegion>44093 Nantes Cedex 1</wicri:noRegion></affiliation></author><author><name sortKey="Munnich, Arnold" sort="Munnich, Arnold" uniqKey="Munnich A" first="Arnold" last="Munnich">Arnold Munnich</name><affiliation wicri:level="1"><nlm:aff id="aff9">Institut National de la Santé et de la Recherche Médicale U781, Service de Génétique, Université Paris Descartes – Sorbonne Paris Cité, Fondation Imagine, Hôpital Necker – Enfants Malades, Assistance Publique – Hôpitaux de Paris, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut National de la Santé et de la Recherche Médicale U781, Service de Génétique, Université Paris Descartes – Sorbonne Paris Cité, Fondation Imagine, Hôpital Necker – Enfants Malades, Assistance Publique – Hôpitaux de Paris, 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="Mussini, Jean Marie" sort="Mussini, Jean Marie" uniqKey="Mussini J" first="Jean-Marie" last="Mussini">Jean-Marie Mussini</name><affiliation wicri:level="1"><nlm:aff id="aff15">Laboratoire d’Anatomopathologie A, Centre Hospitalier Universitaire Nantes, 44093 Nantes, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire d’Anatomopathologie A, Centre Hospitalier Universitaire Nantes, 44093 Nantes</wicri:regionArea><wicri:noRegion>44093 Nantes</wicri:noRegion><wicri:noRegion>44093 Nantes</wicri:noRegion></affiliation></author><author><name sortKey="Pillay, Komala" sort="Pillay, Komala" uniqKey="Pillay K" first="Komala" last="Pillay">Komala Pillay</name><affiliation wicri:level="1"><nlm:aff id="aff19">Division of Anatomical Pathology, Department of Clinical Laboratory Sciences, National Health Laboratory Service and University of Cape Town, 7925 Cape Town, South Africa</nlm:aff><country xml:lang="fr">Afrique du Sud</country><wicri:regionArea>Division of Anatomical Pathology, Department of Clinical Laboratory Sciences, National Health Laboratory Service and University of Cape Town, 7925 Cape Town</wicri:regionArea><wicri:noRegion>7925 Cape Town</wicri:noRegion></affiliation></author><author><name sortKey="Rahman, Thahira" sort="Rahman, Thahira" uniqKey="Rahman T" first="Thahira" last="Rahman">Thahira Rahman</name><affiliation wicri:level="1"><nlm:aff id="aff5">Institute of Genetic Medicine, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne NE3 4DS, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Genetic Medicine, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne NE3 4DS</wicri:regionArea><wicri:noRegion>Newcastle upon Tyne NE3 4DS</wicri:noRegion></affiliation></author><author><name sortKey="Redon, Richard" sort="Redon, Richard" uniqKey="Redon R" first="Richard" last="Redon">Richard Redon</name><affiliation wicri:level="4"><nlm:aff id="aff16">Institut National de la Santé et de la Recherche Médicale UMR 1087, Centre National de la Recherche Scientifique UMR 6291, Université de Nantes, 44007 Nantes, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut National de la Santé et de la Recherche Médicale UMR 1087, Centre National de la Recherche Scientifique UMR 6291, Université de Nantes, 44007 Nantes</wicri:regionArea><wicri:noRegion>44007 Nantes</wicri:noRegion><orgName type="university">Université de Nantes</orgName><placeName><settlement type="city">Nantes</settlement><region type="region" nuts="2">Pays de la Loire</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="aff17">L’Institut du Thorax, Centre Hospitalier Universitaire Nantes, 44007 Nantes, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>L’Institut du Thorax, Centre Hospitalier Universitaire Nantes, 44007 Nantes</wicri:regionArea><wicri:noRegion>44007 Nantes</wicri:noRegion><wicri:noRegion>44007 Nantes</wicri:noRegion></affiliation></author><author><name sortKey="Salort Campana, Emmanuelle" sort="Salort Campana, Emmanuelle" uniqKey="Salort Campana E" first="Emmanuelle" last="Salort-Campana">Emmanuelle Salort-Campana</name><affiliation wicri:level="1"><nlm:aff id="aff20">Service de Neurologie, Centre de Référence des Maladies Neuromusculaires et Sclérose Latérale Amyotrophique, Hôpital de la Timone, 13000 Marseille, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Neurologie, Centre de Référence des Maladies Neuromusculaires et Sclérose Latérale Amyotrophique, Hôpital de la Timone, 13000 Marseille</wicri:regionArea><wicri:noRegion>13000 Marseille</wicri:noRegion><placeName><settlement type="city">Marseille</settlement><region type="région" nuts="2">Provence-Alpes-Côte d'Azur</region></placeName></affiliation></author><author><name sortKey="Santibanez Koref, Mauro" sort="Santibanez Koref, Mauro" uniqKey="Santibanez Koref M" first="Mauro" last="Santibanez-Koref">Mauro Santibanez-Koref</name><affiliation wicri:level="1"><nlm:aff id="aff5">Institute of Genetic Medicine, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne NE3 4DS, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Genetic Medicine, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne NE3 4DS</wicri:regionArea><wicri:noRegion>Newcastle upon Tyne NE3 4DS</wicri:noRegion></affiliation></author><author><name sortKey="Thauvin, Christel" sort="Thauvin, Christel" uniqKey="Thauvin C" first="Christel" last="Thauvin">Christel Thauvin</name><affiliation wicri:level="4"><nlm:aff id="aff10">Equipe d’Accueil 4271 Génétique des Anomalies du Développement, Institut Fédératif de Recherche 100 de la Santé et des Sciences et Techniques de l’Information et de Communication, Université de Bourgogne, 21078 Dijon, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Equipe d’Accueil 4271 Génétique des Anomalies du Développement, Institut Fédératif de Recherche 100 de la Santé et des Sciences et Techniques de l’Information et de Communication, Université de Bourgogne, 21078 Dijon</wicri:regionArea><wicri:noRegion>21078 Dijon</wicri:noRegion><orgName type="university">Université de Bourgogne</orgName><placeName><settlement type="city">Dijon</settlement><region type="region" nuts="2">Région Bourgogne</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="aff11">Centre de Référence Anomalies de Développement et Syndromes Malformatifs de l’Interrégion Grand-Est et Centre de Génétique, Hôpital d’Enfants, Centre Hospitalier Universitaire, 21079 Dijon, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Centre de Référence Anomalies de Développement et Syndromes Malformatifs de l’Interrégion Grand-Est et Centre de Génétique, Hôpital d’Enfants, Centre Hospitalier Universitaire, 21079 Dijon</wicri:regionArea><wicri:noRegion>21079 Dijon</wicri:noRegion><wicri:noRegion>21079 Dijon</wicri:noRegion></affiliation></author><author><name sortKey="Barbarot, Sebastien" sort="Barbarot, Sebastien" uniqKey="Barbarot S" first="Sébastien" last="Barbarot">Sébastien Barbarot</name><affiliation wicri:level="1"><nlm:aff id="aff21">Clinique Dermatologique, Hôtel Dieu, Centre Hospitalier Universitaire Nantes, Place Alexis Ricordeau, 44000 Nantes, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Clinique Dermatologique, Hôtel Dieu, Centre Hospitalier Universitaire Nantes, Place Alexis Ricordeau, 44000 Nantes</wicri:regionArea><wicri:noRegion>44000 Nantes</wicri:noRegion><wicri:noRegion>44000 Nantes</wicri:noRegion></affiliation></author><author><name sortKey="Keavney, Bernard" sort="Keavney, Bernard" uniqKey="Keavney B" first="Bernard" last="Keavney">Bernard Keavney</name><affiliation wicri:level="1"><nlm:aff id="aff5">Institute of Genetic Medicine, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne NE3 4DS, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Genetic Medicine, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne NE3 4DS</wicri:regionArea><wicri:noRegion>Newcastle upon Tyne NE3 4DS</wicri:noRegion></affiliation><affiliation wicri:level="4"><nlm:aff id="aff22">Institute of Cardiovascular Sciences, Core Technology Facility, University of Manchester, Manchester M13 9NT, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Cardiovascular Sciences, Core Technology Facility, University of Manchester, Manchester M13 9NT</wicri:regionArea><orgName type="university">Université de Manchester</orgName><placeName><settlement type="city">Manchester</settlement><region type="nation">Angleterre</region><region nuts="2" type="region">Grand Manchester</region></placeName></affiliation></author><author><name sortKey="Bezieau, Stephane" sort="Bezieau, Stephane" uniqKey="Bezieau S" first="Stéphane" last="Bézieau">Stéphane Bézieau</name><affiliation wicri:level="1"><nlm:aff id="aff3">Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, 9 Quai Moncousu, 44093 Nantes Cedex 1, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, 9 Quai Moncousu, 44093 Nantes Cedex 1</wicri:regionArea><wicri:noRegion>44093 Nantes Cedex 1</wicri:noRegion><wicri:noRegion>44093 Nantes Cedex 1</wicri:noRegion></affiliation><affiliation wicri:level="4"><nlm:aff id="aff7">Equipe d’Accueil 4273 Biometadys, Faculté de Médecine, Université de Nantes, 1 Rue Gaston Veil, 44035 Nantes, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Equipe d’Accueil 4273 Biometadys, Faculté de Médecine, Université de Nantes, 1 Rue Gaston Veil, 44035 Nantes</wicri:regionArea><wicri:noRegion>44035 Nantes</wicri:noRegion><orgName type="university">Université de Nantes</orgName><placeName><settlement type="city">Nantes</settlement><region type="region" nuts="2">Pays de la Loire</region></placeName></affiliation></author><author><name sortKey="Mayosi, Bongani M" sort="Mayosi, Bongani M" uniqKey="Mayosi B" first="Bongani M." last="Mayosi">Bongani M. Mayosi</name><affiliation wicri:level="1"><nlm:aff id="aff4">Cardiovascular Genetics Laboratory, Hatter Institute for Cardiovascular Research in Africa, Department of Medicine, Groote Schuur Hospital and University of Cape Town, 7925 Cape Town, South Africa</nlm:aff><country xml:lang="fr">Afrique du Sud</country><wicri:regionArea>Cardiovascular Genetics Laboratory, Hatter Institute for Cardiovascular Research in Africa, Department of Medicine, Groote Schuur Hospital and University of Cape Town, 7925 Cape Town</wicri:regionArea><wicri:noRegion>7925 Cape Town</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">24268661</idno><idno type="pmc">3853004</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3853004</idno><idno type="RBID">PMC:3853004</idno><idno type="doi">10.1016/j.ajhg.2013.10.013</idno><date when="2013">2013</date><idno type="wicri:Area/Pmc/Corpus">001E55</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001E55</idno><idno type="wicri:Area/Pmc/Curation">001E54</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">001E54</idno><idno type="wicri:Area/Pmc/Checkpoint">002133</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">002133</idno><idno type="wicri:Area/Ncbi/Merge">005F81</idno><idno type="wicri:Area/Ncbi/Curation">005F81</idno><idno type="wicri:Area/Ncbi/Checkpoint">005F81</idno><idno type="wicri:Area/Main/Merge">003379</idno><idno type="wicri:Area/Main/Curation">003373</idno><idno type="wicri:Area/Main/Exploration">003373</idno><idno type="wicri:Area/France/Extraction">000157</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Mutations in <italic>FAM111B</italic> Cause Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis</title><author><name sortKey="Mercier, Sandra" sort="Mercier, Sandra" uniqKey="Mercier S" first="Sandra" last="Mercier">Sandra Mercier</name><affiliation wicri:level="3"><nlm:aff id="aff1">Unité de Génétique Clinique, Service de Génétique Médicale, Centre de Référence Anomalies de Développement et Syndromes Malformatifs de l’Interrégion Grand-Ouest, Centre Hospitalier Universitaire Nantes, 9 Quai Moncousu, 44093 Nantes Cedex 1, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Unité de Génétique Clinique, Service de Génétique Médicale, Centre de Référence Anomalies de Développement et Syndromes Malformatifs de l’Interrégion Grand-Ouest, Centre Hospitalier Universitaire Nantes, 9 Quai Moncousu, 44093 Nantes Cedex 1</wicri:regionArea><placeName><region type="region" nuts="2">Pays de la Loire</region><settlement type="city">Nantes</settlement></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="aff2">Institut National de la Santé et de la Recherche Médicale UMR 1089, Atlantic Gene Therapy Institute, University of Nantes, 44007 Nantes, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut National de la Santé et de la Recherche Médicale UMR 1089, Atlantic Gene Therapy Institute, University of Nantes, 44007 Nantes</wicri:regionArea><placeName><region type="region" nuts="2">Pays de la Loire</region><settlement type="city">Nantes</settlement></placeName></affiliation></author><author><name sortKey="Kury, Sebastien" sort="Kury, Sebastien" uniqKey="Kury S" first="Sébastien" last="Küry">Sébastien Küry</name><affiliation wicri:level="3"><nlm:aff id="aff3">Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, 9 Quai Moncousu, 44093 Nantes Cedex 1, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, 9 Quai Moncousu, 44093 Nantes Cedex 1</wicri:regionArea><placeName><region type="region" nuts="2">Pays de la Loire</region><settlement type="city">Nantes</settlement></placeName></affiliation></author><author><name sortKey="Shaboodien, Gasnat" sort="Shaboodien, Gasnat" uniqKey="Shaboodien G" first="Gasnat" last="Shaboodien">Gasnat Shaboodien</name><affiliation wicri:level="1"><nlm:aff id="aff4">Cardiovascular Genetics Laboratory, Hatter Institute for Cardiovascular Research in Africa, Department of Medicine, Groote Schuur Hospital and University of Cape Town, 7925 Cape Town, South Africa</nlm:aff><country xml:lang="fr">Afrique du Sud</country><wicri:regionArea>Cardiovascular Genetics Laboratory, Hatter Institute for Cardiovascular Research in Africa, Department of Medicine, Groote Schuur Hospital and University of Cape Town, 7925 Cape Town</wicri:regionArea><wicri:noRegion>7925 Cape Town</wicri:noRegion></affiliation></author><author><name sortKey="Houniet, Darren T" sort="Houniet, Darren T" uniqKey="Houniet D" first="Darren T." last="Houniet">Darren T. Houniet</name><affiliation wicri:level="1"><nlm:aff id="aff5">Institute of Genetic Medicine, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne NE3 4DS, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Genetic Medicine, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne NE3 4DS</wicri:regionArea><wicri:noRegion>Newcastle upon Tyne NE3 4DS</wicri:noRegion></affiliation></author><author><name sortKey="Khumalo, Nonhlanhla P" sort="Khumalo, Nonhlanhla P" uniqKey="Khumalo N" first="Nonhlanhla P." last="Khumalo">Nonhlanhla P. Khumalo</name><affiliation wicri:level="1"><nlm:aff id="aff6">Division of Dermatology, Department of Medicine, Groote Schuur Hospital and University of Cape Town, 7925 Cape Town, South Africa</nlm:aff><country xml:lang="fr">Afrique du Sud</country><wicri:regionArea>Division of Dermatology, Department of Medicine, Groote Schuur Hospital and University of Cape Town, 7925 Cape Town</wicri:regionArea><wicri:noRegion>7925 Cape Town</wicri:noRegion></affiliation></author><author><name sortKey="Bou Hanna, Chantal" sort="Bou Hanna, Chantal" uniqKey="Bou Hanna C" first="Chantal" last="Bou-Hanna">Chantal Bou-Hanna</name><affiliation wicri:level="4"><nlm:aff id="aff7">Equipe d’Accueil 4273 Biometadys, Faculté de Médecine, Université de Nantes, 1 Rue Gaston Veil, 44035 Nantes, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Equipe d’Accueil 4273 Biometadys, Faculté de Médecine, Université de Nantes, 1 Rue Gaston Veil, 44035 Nantes</wicri:regionArea><wicri:noRegion>44035 Nantes</wicri:noRegion><orgName type="university">Université de Nantes</orgName><placeName><settlement type="city">Nantes</settlement><region type="region" nuts="2">Pays de la Loire</region></placeName></affiliation></author><author><name sortKey="Bodak, Nathalie" sort="Bodak, Nathalie" uniqKey="Bodak N" first="Nathalie" last="Bodak">Nathalie Bodak</name><affiliation wicri:level="1"><nlm:aff id="aff8">Service de Dermatologie, Hôpital Necker – Enfants Malades, Assistance Publique – Hôpitaux de Paris, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Dermatologie, Hôpital Necker – Enfants Malades, Assistance Publique – Hôpitaux de Paris, 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="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valérie" last="Cormier-Daire">Valérie Cormier-Daire</name><affiliation wicri:level="1"><nlm:aff id="aff9">Institut National de la Santé et de la Recherche Médicale U781, Service de Génétique, Université Paris Descartes – Sorbonne Paris Cité, Fondation Imagine, Hôpital Necker – Enfants Malades, Assistance Publique – Hôpitaux de Paris, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut National de la Santé et de la Recherche Médicale U781, Service de Génétique, Université Paris Descartes – Sorbonne Paris Cité, Fondation Imagine, Hôpital Necker – Enfants Malades, Assistance Publique – Hôpitaux de Paris, 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="David, Albert" sort="David, Albert" uniqKey="David A" first="Albert" last="David">Albert David</name><affiliation wicri:level="1"><nlm:aff id="aff1">Unité de Génétique Clinique, Service de Génétique Médicale, Centre de Référence Anomalies de Développement et Syndromes Malformatifs de l’Interrégion Grand-Ouest, Centre Hospitalier Universitaire Nantes, 9 Quai Moncousu, 44093 Nantes Cedex 1, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Unité de Génétique Clinique, Service de Génétique Médicale, Centre de Référence Anomalies de Développement et Syndromes Malformatifs de l’Interrégion Grand-Ouest, Centre Hospitalier Universitaire Nantes, 9 Quai Moncousu, 44093 Nantes Cedex 1</wicri:regionArea><wicri:noRegion>44093 Nantes Cedex 1</wicri:noRegion><wicri:noRegion>44093 Nantes Cedex 1</wicri:noRegion></affiliation></author><author><name sortKey="Faivre, Laurence" sort="Faivre, Laurence" uniqKey="Faivre L" first="Laurence" last="Faivre">Laurence Faivre</name><affiliation wicri:level="4"><nlm:aff id="aff10">Equipe d’Accueil 4271 Génétique des Anomalies du Développement, Institut Fédératif de Recherche 100 de la Santé et des Sciences et Techniques de l’Information et de Communication, Université de Bourgogne, 21078 Dijon, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Equipe d’Accueil 4271 Génétique des Anomalies du Développement, Institut Fédératif de Recherche 100 de la Santé et des Sciences et Techniques de l’Information et de Communication, Université de Bourgogne, 21078 Dijon</wicri:regionArea><wicri:noRegion>21078 Dijon</wicri:noRegion><orgName type="university">Université de Bourgogne</orgName><placeName><settlement type="city">Dijon</settlement><region type="region" nuts="2">Région Bourgogne</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="aff11">Centre de Référence Anomalies de Développement et Syndromes Malformatifs de l’Interrégion Grand-Est et Centre de Génétique, Hôpital d’Enfants, Centre Hospitalier Universitaire, 21079 Dijon, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Centre de Référence Anomalies de Développement et Syndromes Malformatifs de l’Interrégion Grand-Est et Centre de Génétique, Hôpital d’Enfants, Centre Hospitalier Universitaire, 21079 Dijon</wicri:regionArea><wicri:noRegion>21079 Dijon</wicri:noRegion><wicri:noRegion>21079 Dijon</wicri:noRegion></affiliation></author><author><name sortKey="Figarella Branger, Dominique" sort="Figarella Branger, Dominique" uniqKey="Figarella Branger D" first="Dominique" last="Figarella-Branger">Dominique Figarella-Branger</name><affiliation wicri:level="1"><nlm:aff id="aff12">Service d’Anatomopathologie et de Neuropathologie, Hôpital La Timone, 13000 Marseille, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service d’Anatomopathologie et de Neuropathologie, Hôpital La Timone, 13000 Marseille</wicri:regionArea><wicri:noRegion>13000 Marseille</wicri:noRegion><placeName><settlement type="city">Marseille</settlement><region type="région" nuts="2">Provence-Alpes-Côte d'Azur</region></placeName></affiliation></author><author><name sortKey="Gherardi, Romain K" sort="Gherardi, Romain K" uniqKey="Gherardi R" first="Romain K." last="Gherardi">Romain K. Gherardi</name><affiliation wicri:level="1"><nlm:aff id="aff13">Service d’Anatomopathologie, Hôpital Henri Mondor, 94010 Créteil, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service d’Anatomopathologie, Hôpital Henri Mondor, 94010 Créteil</wicri:regionArea><wicri:noRegion>94010 Créteil</wicri:noRegion><wicri:noRegion>94010 Créteil</wicri:noRegion></affiliation></author><author><name sortKey="Glen, Elise" sort="Glen, Elise" uniqKey="Glen E" first="Elise" last="Glen">Elise Glen</name><affiliation wicri:level="1"><nlm:aff id="aff5">Institute of Genetic Medicine, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne NE3 4DS, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Genetic Medicine, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne NE3 4DS</wicri:regionArea><wicri:noRegion>Newcastle upon Tyne NE3 4DS</wicri:noRegion></affiliation></author><author><name sortKey="Hamel, Antoine" sort="Hamel, Antoine" uniqKey="Hamel A" first="Antoine" last="Hamel">Antoine Hamel</name><affiliation wicri:level="1"><nlm:aff id="aff14">Service de Chirurgie Infantile, Centre Hospitalier Universitaire Nantes, 9 Quai Moncousu, 44093 Nantes Cedex 1, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Chirurgie Infantile, Centre Hospitalier Universitaire Nantes, 9 Quai Moncousu, 44093 Nantes Cedex 1</wicri:regionArea><wicri:noRegion>44093 Nantes Cedex 1</wicri:noRegion><wicri:noRegion>44093 Nantes Cedex 1</wicri:noRegion></affiliation></author><author><name sortKey="Laboisse, Christian" sort="Laboisse, Christian" uniqKey="Laboisse C" first="Christian" last="Laboisse">Christian Laboisse</name><affiliation wicri:level="4"><nlm:aff id="aff7">Equipe d’Accueil 4273 Biometadys, Faculté de Médecine, Université de Nantes, 1 Rue Gaston Veil, 44035 Nantes, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Equipe d’Accueil 4273 Biometadys, Faculté de Médecine, Université de Nantes, 1 Rue Gaston Veil, 44035 Nantes</wicri:regionArea><wicri:noRegion>44035 Nantes</wicri:noRegion><orgName type="university">Université de Nantes</orgName><placeName><settlement type="city">Nantes</settlement><region type="region" nuts="2">Pays de la Loire</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="aff15">Laboratoire d’Anatomopathologie A, Centre Hospitalier Universitaire Nantes, 44093 Nantes, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire d’Anatomopathologie A, Centre Hospitalier Universitaire Nantes, 44093 Nantes</wicri:regionArea><wicri:noRegion>44093 Nantes</wicri:noRegion><wicri:noRegion>44093 Nantes</wicri:noRegion></affiliation></author><author><name sortKey="Le Caignec, Cedric" sort="Le Caignec, Cedric" uniqKey="Le Caignec C" first="Cédric" last="Le Caignec">Cédric Le Caignec</name><affiliation wicri:level="1"><nlm:aff id="aff3">Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, 9 Quai Moncousu, 44093 Nantes Cedex 1, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, 9 Quai Moncousu, 44093 Nantes Cedex 1</wicri:regionArea><wicri:noRegion>44093 Nantes Cedex 1</wicri:noRegion><wicri:noRegion>44093 Nantes Cedex 1</wicri:noRegion></affiliation></author><author><name sortKey="Lindenbaum, Pierre" sort="Lindenbaum, Pierre" uniqKey="Lindenbaum P" first="Pierre" last="Lindenbaum">Pierre Lindenbaum</name><affiliation wicri:level="4"><nlm:aff id="aff16">Institut National de la Santé et de la Recherche Médicale UMR 1087, Centre National de la Recherche Scientifique UMR 6291, Université de Nantes, 44007 Nantes, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut National de la Santé et de la Recherche Médicale UMR 1087, Centre National de la Recherche Scientifique UMR 6291, Université de Nantes, 44007 Nantes</wicri:regionArea><wicri:noRegion>44007 Nantes</wicri:noRegion><orgName type="university">Université de Nantes</orgName><placeName><settlement type="city">Nantes</settlement><region type="region" nuts="2">Pays de la Loire</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="aff17">L’Institut du Thorax, Centre Hospitalier Universitaire Nantes, 44007 Nantes, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>L’Institut du Thorax, Centre Hospitalier Universitaire Nantes, 44007 Nantes</wicri:regionArea><wicri:noRegion>44007 Nantes</wicri:noRegion><wicri:noRegion>44007 Nantes</wicri:noRegion></affiliation></author><author><name sortKey="Magot, Armelle" sort="Magot, Armelle" uniqKey="Magot A" first="Armelle" last="Magot">Armelle Magot</name><affiliation wicri:level="1"><nlm:aff id="aff18">Service des Explorations fonctionnelles, Centre de Référence des Maladies Neuromusculaires, Centre Hospitalier Universitaire Nantes, 9 Quai Moncousu, 44093 Nantes Cedex 1, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service des Explorations fonctionnelles, Centre de Référence des Maladies Neuromusculaires, Centre Hospitalier Universitaire Nantes, 9 Quai Moncousu, 44093 Nantes Cedex 1</wicri:regionArea><wicri:noRegion>44093 Nantes Cedex 1</wicri:noRegion><wicri:noRegion>44093 Nantes Cedex 1</wicri:noRegion></affiliation></author><author><name sortKey="Munnich, Arnold" sort="Munnich, Arnold" uniqKey="Munnich A" first="Arnold" last="Munnich">Arnold Munnich</name><affiliation wicri:level="1"><nlm:aff id="aff9">Institut National de la Santé et de la Recherche Médicale U781, Service de Génétique, Université Paris Descartes – Sorbonne Paris Cité, Fondation Imagine, Hôpital Necker – Enfants Malades, Assistance Publique – Hôpitaux de Paris, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut National de la Santé et de la Recherche Médicale U781, Service de Génétique, Université Paris Descartes – Sorbonne Paris Cité, Fondation Imagine, Hôpital Necker – Enfants Malades, Assistance Publique – Hôpitaux de Paris, 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="Mussini, Jean Marie" sort="Mussini, Jean Marie" uniqKey="Mussini J" first="Jean-Marie" last="Mussini">Jean-Marie Mussini</name><affiliation wicri:level="1"><nlm:aff id="aff15">Laboratoire d’Anatomopathologie A, Centre Hospitalier Universitaire Nantes, 44093 Nantes, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire d’Anatomopathologie A, Centre Hospitalier Universitaire Nantes, 44093 Nantes</wicri:regionArea><wicri:noRegion>44093 Nantes</wicri:noRegion><wicri:noRegion>44093 Nantes</wicri:noRegion></affiliation></author><author><name sortKey="Pillay, Komala" sort="Pillay, Komala" uniqKey="Pillay K" first="Komala" last="Pillay">Komala Pillay</name><affiliation wicri:level="1"><nlm:aff id="aff19">Division of Anatomical Pathology, Department of Clinical Laboratory Sciences, National Health Laboratory Service and University of Cape Town, 7925 Cape Town, South Africa</nlm:aff><country xml:lang="fr">Afrique du Sud</country><wicri:regionArea>Division of Anatomical Pathology, Department of Clinical Laboratory Sciences, National Health Laboratory Service and University of Cape Town, 7925 Cape Town</wicri:regionArea><wicri:noRegion>7925 Cape Town</wicri:noRegion></affiliation></author><author><name sortKey="Rahman, Thahira" sort="Rahman, Thahira" uniqKey="Rahman T" first="Thahira" last="Rahman">Thahira Rahman</name><affiliation wicri:level="1"><nlm:aff id="aff5">Institute of Genetic Medicine, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne NE3 4DS, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Genetic Medicine, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne NE3 4DS</wicri:regionArea><wicri:noRegion>Newcastle upon Tyne NE3 4DS</wicri:noRegion></affiliation></author><author><name sortKey="Redon, Richard" sort="Redon, Richard" uniqKey="Redon R" first="Richard" last="Redon">Richard Redon</name><affiliation wicri:level="4"><nlm:aff id="aff16">Institut National de la Santé et de la Recherche Médicale UMR 1087, Centre National de la Recherche Scientifique UMR 6291, Université de Nantes, 44007 Nantes, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut National de la Santé et de la Recherche Médicale UMR 1087, Centre National de la Recherche Scientifique UMR 6291, Université de Nantes, 44007 Nantes</wicri:regionArea><wicri:noRegion>44007 Nantes</wicri:noRegion><orgName type="university">Université de Nantes</orgName><placeName><settlement type="city">Nantes</settlement><region type="region" nuts="2">Pays de la Loire</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="aff17">L’Institut du Thorax, Centre Hospitalier Universitaire Nantes, 44007 Nantes, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>L’Institut du Thorax, Centre Hospitalier Universitaire Nantes, 44007 Nantes</wicri:regionArea><wicri:noRegion>44007 Nantes</wicri:noRegion><wicri:noRegion>44007 Nantes</wicri:noRegion></affiliation></author><author><name sortKey="Salort Campana, Emmanuelle" sort="Salort Campana, Emmanuelle" uniqKey="Salort Campana E" first="Emmanuelle" last="Salort-Campana">Emmanuelle Salort-Campana</name><affiliation wicri:level="1"><nlm:aff id="aff20">Service de Neurologie, Centre de Référence des Maladies Neuromusculaires et Sclérose Latérale Amyotrophique, Hôpital de la Timone, 13000 Marseille, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Neurologie, Centre de Référence des Maladies Neuromusculaires et Sclérose Latérale Amyotrophique, Hôpital de la Timone, 13000 Marseille</wicri:regionArea><wicri:noRegion>13000 Marseille</wicri:noRegion><placeName><settlement type="city">Marseille</settlement><region type="région" nuts="2">Provence-Alpes-Côte d'Azur</region></placeName></affiliation></author><author><name sortKey="Santibanez Koref, Mauro" sort="Santibanez Koref, Mauro" uniqKey="Santibanez Koref M" first="Mauro" last="Santibanez-Koref">Mauro Santibanez-Koref</name><affiliation wicri:level="1"><nlm:aff id="aff5">Institute of Genetic Medicine, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne NE3 4DS, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Genetic Medicine, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne NE3 4DS</wicri:regionArea><wicri:noRegion>Newcastle upon Tyne NE3 4DS</wicri:noRegion></affiliation></author><author><name sortKey="Thauvin, Christel" sort="Thauvin, Christel" uniqKey="Thauvin C" first="Christel" last="Thauvin">Christel Thauvin</name><affiliation wicri:level="4"><nlm:aff id="aff10">Equipe d’Accueil 4271 Génétique des Anomalies du Développement, Institut Fédératif de Recherche 100 de la Santé et des Sciences et Techniques de l’Information et de Communication, Université de Bourgogne, 21078 Dijon, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Equipe d’Accueil 4271 Génétique des Anomalies du Développement, Institut Fédératif de Recherche 100 de la Santé et des Sciences et Techniques de l’Information et de Communication, Université de Bourgogne, 21078 Dijon</wicri:regionArea><wicri:noRegion>21078 Dijon</wicri:noRegion><orgName type="university">Université de Bourgogne</orgName><placeName><settlement type="city">Dijon</settlement><region type="region" nuts="2">Région Bourgogne</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="aff11">Centre de Référence Anomalies de Développement et Syndromes Malformatifs de l’Interrégion Grand-Est et Centre de Génétique, Hôpital d’Enfants, Centre Hospitalier Universitaire, 21079 Dijon, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Centre de Référence Anomalies de Développement et Syndromes Malformatifs de l’Interrégion Grand-Est et Centre de Génétique, Hôpital d’Enfants, Centre Hospitalier Universitaire, 21079 Dijon</wicri:regionArea><wicri:noRegion>21079 Dijon</wicri:noRegion><wicri:noRegion>21079 Dijon</wicri:noRegion></affiliation></author><author><name sortKey="Barbarot, Sebastien" sort="Barbarot, Sebastien" uniqKey="Barbarot S" first="Sébastien" last="Barbarot">Sébastien Barbarot</name><affiliation wicri:level="1"><nlm:aff id="aff21">Clinique Dermatologique, Hôtel Dieu, Centre Hospitalier Universitaire Nantes, Place Alexis Ricordeau, 44000 Nantes, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Clinique Dermatologique, Hôtel Dieu, Centre Hospitalier Universitaire Nantes, Place Alexis Ricordeau, 44000 Nantes</wicri:regionArea><wicri:noRegion>44000 Nantes</wicri:noRegion><wicri:noRegion>44000 Nantes</wicri:noRegion></affiliation></author><author><name sortKey="Keavney, Bernard" sort="Keavney, Bernard" uniqKey="Keavney B" first="Bernard" last="Keavney">Bernard Keavney</name><affiliation wicri:level="1"><nlm:aff id="aff5">Institute of Genetic Medicine, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne NE3 4DS, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Genetic Medicine, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne NE3 4DS</wicri:regionArea><wicri:noRegion>Newcastle upon Tyne NE3 4DS</wicri:noRegion></affiliation><affiliation wicri:level="4"><nlm:aff id="aff22">Institute of Cardiovascular Sciences, Core Technology Facility, University of Manchester, Manchester M13 9NT, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Cardiovascular Sciences, Core Technology Facility, University of Manchester, Manchester M13 9NT</wicri:regionArea><orgName type="university">Université de Manchester</orgName><placeName><settlement type="city">Manchester</settlement><region type="nation">Angleterre</region><region nuts="2" type="region">Grand Manchester</region></placeName></affiliation></author><author><name sortKey="Bezieau, Stephane" sort="Bezieau, Stephane" uniqKey="Bezieau S" first="Stéphane" last="Bézieau">Stéphane Bézieau</name><affiliation wicri:level="1"><nlm:aff id="aff3">Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, 9 Quai Moncousu, 44093 Nantes Cedex 1, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, 9 Quai Moncousu, 44093 Nantes Cedex 1</wicri:regionArea><wicri:noRegion>44093 Nantes Cedex 1</wicri:noRegion><wicri:noRegion>44093 Nantes Cedex 1</wicri:noRegion></affiliation><affiliation wicri:level="4"><nlm:aff id="aff7">Equipe d’Accueil 4273 Biometadys, Faculté de Médecine, Université de Nantes, 1 Rue Gaston Veil, 44035 Nantes, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Equipe d’Accueil 4273 Biometadys, Faculté de Médecine, Université de Nantes, 1 Rue Gaston Veil, 44035 Nantes</wicri:regionArea><wicri:noRegion>44035 Nantes</wicri:noRegion><orgName type="university">Université de Nantes</orgName><placeName><settlement type="city">Nantes</settlement><region type="region" nuts="2">Pays de la Loire</region></placeName></affiliation></author><author><name sortKey="Mayosi, Bongani M" sort="Mayosi, Bongani M" uniqKey="Mayosi B" first="Bongani M." last="Mayosi">Bongani M. Mayosi</name><affiliation wicri:level="1"><nlm:aff id="aff4">Cardiovascular Genetics Laboratory, Hatter Institute for Cardiovascular Research in Africa, Department of Medicine, Groote Schuur Hospital and University of Cape Town, 7925 Cape Town, South Africa</nlm:aff><country xml:lang="fr">Afrique du Sud</country><wicri:regionArea>Cardiovascular Genetics Laboratory, Hatter Institute for Cardiovascular Research in Africa, Department of Medicine, Groote Schuur Hospital and University of Cape Town, 7925 Cape Town</wicri:regionArea><wicri:noRegion>7925 Cape Town</wicri:noRegion></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></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Congenital poikiloderma is characterized by a combination of mottled pigmentation, telangiectasia, and epidermal atrophy in the first few months of life. We have previously described a South African European-descent family affected by a rare autosomal-dominant form of hereditary fibrosing poikiloderma accompanied by tendon contracture, myopathy, and pulmonary fibrosis. Here, we report the identification of causative mutations in <italic>FAM111B</italic> by whole-exome sequencing. In total, three <italic>FAM111B</italic> missense mutations were identified in five kindreds of different ethnic backgrounds. The mutation segregated with the disease in one large pedigree, and mutations were de novo in two other pedigrees. All three mutations were absent from public databases and were not observed on Sanger sequencing of 388 ethnically matched control subjects. The three single-nucleotide mutations code for amino acid changes that are clustered within a putative trypsin-like cysteine/serine peptidase domain of FAM111B. These findings provide evidence of the involvement of <italic>FAM111B</italic> in congenital poikiloderma and multisystem fibrosis.</p></div></front></TEI><affiliations><list><country><li>Afrique du Sud</li><li>France</li><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Manchester</li><li>Pays de la Loire</li><li>Provence-Alpes-Côte d'Azur</li><li>Région Bourgogne</li><li>Île-de-France</li></region><settlement><li>Dijon</li><li>Manchester</li><li>Marseille</li><li>Nantes</li><li>Paris</li></settlement><orgName><li>Université de Bourgogne</li><li>Université de Manchester</li><li>Université de Nantes</li></orgName></list><tree><country name="France"><region name="Pays de la Loire"><name sortKey="Mercier, Sandra" sort="Mercier, Sandra" uniqKey="Mercier S" first="Sandra" last="Mercier">Sandra Mercier</name></region><name sortKey="Barbarot, Sebastien" sort="Barbarot, Sebastien" uniqKey="Barbarot S" first="Sébastien" last="Barbarot">Sébastien Barbarot</name><name sortKey="Bezieau, Stephane" sort="Bezieau, Stephane" uniqKey="Bezieau S" first="Stéphane" last="Bézieau">Stéphane Bézieau</name><name sortKey="Bezieau, Stephane" sort="Bezieau, Stephane" uniqKey="Bezieau S" first="Stéphane" last="Bézieau">Stéphane Bézieau</name><name sortKey="Bodak, Nathalie" sort="Bodak, Nathalie" uniqKey="Bodak N" first="Nathalie" last="Bodak">Nathalie Bodak</name><name sortKey="Bou Hanna, Chantal" sort="Bou Hanna, Chantal" uniqKey="Bou Hanna C" first="Chantal" last="Bou-Hanna">Chantal Bou-Hanna</name><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valérie" last="Cormier-Daire">Valérie Cormier-Daire</name><name sortKey="David, Albert" sort="David, Albert" uniqKey="David A" first="Albert" last="David">Albert David</name><name sortKey="Faivre, Laurence" sort="Faivre, Laurence" uniqKey="Faivre L" first="Laurence" last="Faivre">Laurence Faivre</name><name sortKey="Faivre, Laurence" sort="Faivre, Laurence" uniqKey="Faivre L" first="Laurence" last="Faivre">Laurence Faivre</name><name sortKey="Figarella Branger, Dominique" sort="Figarella Branger, Dominique" uniqKey="Figarella Branger D" first="Dominique" last="Figarella-Branger">Dominique Figarella-Branger</name><name sortKey="Gherardi, Romain K" sort="Gherardi, Romain K" uniqKey="Gherardi R" first="Romain K." last="Gherardi">Romain K. Gherardi</name><name sortKey="Hamel, Antoine" sort="Hamel, Antoine" uniqKey="Hamel A" first="Antoine" last="Hamel">Antoine Hamel</name><name sortKey="Kury, Sebastien" sort="Kury, Sebastien" uniqKey="Kury S" first="Sébastien" last="Küry">Sébastien Küry</name><name sortKey="Laboisse, Christian" sort="Laboisse, Christian" uniqKey="Laboisse C" first="Christian" last="Laboisse">Christian Laboisse</name><name sortKey="Laboisse, Christian" sort="Laboisse, Christian" uniqKey="Laboisse C" first="Christian" last="Laboisse">Christian Laboisse</name><name sortKey="Le Caignec, Cedric" sort="Le Caignec, Cedric" uniqKey="Le Caignec C" first="Cédric" last="Le Caignec">Cédric Le Caignec</name><name sortKey="Lindenbaum, Pierre" sort="Lindenbaum, Pierre" uniqKey="Lindenbaum P" first="Pierre" last="Lindenbaum">Pierre Lindenbaum</name><name sortKey="Lindenbaum, Pierre" sort="Lindenbaum, Pierre" uniqKey="Lindenbaum P" first="Pierre" last="Lindenbaum">Pierre Lindenbaum</name><name sortKey="Magot, Armelle" sort="Magot, Armelle" uniqKey="Magot A" first="Armelle" last="Magot">Armelle Magot</name><name sortKey="Mercier, Sandra" sort="Mercier, Sandra" uniqKey="Mercier S" first="Sandra" last="Mercier">Sandra Mercier</name><name sortKey="Munnich, Arnold" sort="Munnich, Arnold" uniqKey="Munnich A" first="Arnold" last="Munnich">Arnold Munnich</name><name sortKey="Mussini, Jean Marie" sort="Mussini, Jean Marie" uniqKey="Mussini J" first="Jean-Marie" last="Mussini">Jean-Marie Mussini</name><name sortKey="Redon, Richard" sort="Redon, Richard" uniqKey="Redon R" first="Richard" last="Redon">Richard Redon</name><name sortKey="Redon, Richard" sort="Redon, Richard" uniqKey="Redon R" first="Richard" last="Redon">Richard Redon</name><name sortKey="Salort Campana, Emmanuelle" sort="Salort Campana, Emmanuelle" uniqKey="Salort Campana E" first="Emmanuelle" last="Salort-Campana">Emmanuelle Salort-Campana</name><name sortKey="Thauvin, Christel" sort="Thauvin, Christel" uniqKey="Thauvin C" first="Christel" last="Thauvin">Christel Thauvin</name><name sortKey="Thauvin, Christel" sort="Thauvin, Christel" uniqKey="Thauvin C" first="Christel" last="Thauvin">Christel Thauvin</name></country><country name="Afrique du Sud"><noRegion><name sortKey="Shaboodien, Gasnat" sort="Shaboodien, Gasnat" uniqKey="Shaboodien G" first="Gasnat" last="Shaboodien">Gasnat Shaboodien</name></noRegion><name sortKey="Khumalo, Nonhlanhla P" sort="Khumalo, Nonhlanhla P" uniqKey="Khumalo N" first="Nonhlanhla P." last="Khumalo">Nonhlanhla P. Khumalo</name><name sortKey="Mayosi, Bongani M" sort="Mayosi, Bongani M" uniqKey="Mayosi B" first="Bongani M." last="Mayosi">Bongani M. Mayosi</name><name sortKey="Pillay, Komala" sort="Pillay, Komala" uniqKey="Pillay K" first="Komala" last="Pillay">Komala Pillay</name></country><country name="Royaume-Uni"><noRegion><name sortKey="Houniet, Darren T" sort="Houniet, Darren T" uniqKey="Houniet D" first="Darren T." last="Houniet">Darren T. Houniet</name></noRegion><name sortKey="Glen, Elise" sort="Glen, Elise" uniqKey="Glen E" first="Elise" last="Glen">Elise Glen</name><name sortKey="Keavney, Bernard" sort="Keavney, Bernard" uniqKey="Keavney B" first="Bernard" last="Keavney">Bernard Keavney</name><name sortKey="Keavney, Bernard" sort="Keavney, Bernard" uniqKey="Keavney B" first="Bernard" last="Keavney">Bernard Keavney</name><name sortKey="Rahman, Thahira" sort="Rahman, Thahira" uniqKey="Rahman T" first="Thahira" last="Rahman">Thahira Rahman</name><name sortKey="Santibanez Koref, Mauro" sort="Santibanez Koref, Mauro" uniqKey="Santibanez Koref M" first="Mauro" last="Santibanez-Koref">Mauro Santibanez-Koref</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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