Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.
Identifieur interne : 000058 ( PubMed/Curation ); précédent : 000057; suivant : 000059Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.
Auteurs : Marie Vincent [France] ; David Geneviève [France] ; Agnès Ostertag [France] ; Sandrine Marlin [France] ; Didier Lacombe [France] ; Dominique Martin-Coignard [France] ; Christine Coubes [France] ; Albert David [France] ; Stanislas Lyonnet [France] ; Catheline Vilain [Belgique] ; Anne Dieux-Coeslier [France] ; Sylvie Manouvrier [France] ; Bertrand Isidor [France] ; Marie-Line Jacquemont [France] ; Sophie Julia [France] ; Valérie Layet [France] ; Sophie Naudion [France] ; Sylvie Odent [France] ; Laurent Pasquier [France] ; Sybille Pelras [France] ; Nicole Philip [France] ; Geneviève Pierquin [Belgique] ; Fabienne Prieur [France] ; Nisrine Aboussair [Maroc] ; Tania Attie-Bitach [France] ; Geneviève Baujat [France] ; Patricia Blanchet [France] ; Catherine Blanchet [France] ; Hélène Dollfus [France] ; Bérénice Doray [France] ; Elise Schaefer [France] ; Patrick Edery [France] ; Fabienne Giuliano [France] ; Alice Goldenberg [France] ; Cyril Goizet [France] ; Agnès Guichet [France] ; Christian Herlin [France] ; Laetitia Lambert [France] ; Bruno Leheup [France] ; Jelena Martinovic [France] ; Sandra Mercier [France] ; Cyril Mignot [France] ; Marie-Laure Moutard [France] ; Marie-José Perez [France] ; Lucile Pinson [France] ; Jacques Puechberty [France] ; Marjolaine Willems [France] ; Hanitra Randrianaivo [France] ; Kateline Szakszon ; Kateline Szaskon ; Annick Toutain [France] ; Alain Verloes [France] ; Jacqueline Vigneron [France] ; Elodie Sanchez [France] ; Pierre Sarda [France] ; Jean-Louis Laplanche [France] ; Corinne Collet [France]Source :
- Genetics in medicine : official journal of the American College of Medical Genetics [ 1530-0366 ] ; 2016.
English descriptors
- KwdEn :
- Adolescent, Adult, Amino Acid Sequence, Base Sequence, Child, DNA-Directed RNA Polymerases (genetics), Female, Genetic Association Studies, Humans, Male, Mandibulofacial Dysostosis (diagnosis), Mandibulofacial Dysostosis (genetics), Microcephaly (genetics), Middle Aged, Molecular Sequence Data, Mutation, Nuclear Proteins (genetics), Peptide Elongation Factors (genetics), Phosphoproteins (genetics), Ribonucleoprotein, U5 Small Nuclear (genetics), Sequence Deletion, Young Adult.
- MESH :
- chemical , genetics : DNA-Directed RNA Polymerases, Nuclear Proteins, Peptide Elongation Factors, Phosphoproteins, Ribonucleoprotein, U5 Small Nuclear.
- diagnosis : Mandibulofacial Dysostosis.
- genetics : Mandibulofacial Dysostosis, Microcephaly.
- Adolescent, Adult, Amino Acid Sequence, Base Sequence, Child, Female, Genetic Association Studies, Humans, Male, Middle Aged, Molecular Sequence Data, Mutation, Sequence Deletion, Young Adult.
Abstract
Treacher Collins/Franceschetti syndrome (TCS; OMIM 154500) is a disorder of craniofacial development belonging to the heterogeneous group of mandibulofacial dysostoses. TCS is classically characterized by bilateral mandibular and malar hypoplasia, downward-slanting palpebral fissures, and microtia. To date, three genes have been identified in TCS:,TCOF1, POLR1D, and POLR1C.
DOI: 10.1038/gim.2015.29
PubMed: 25790162
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Kateline Szaskon<affiliation><nlm:affiliation>Klinikai Genetikai Kôzpont, Gyermekklinika, Debrecen, Hungria.</nlm:affiliation><wicri:noCountry code="subField">Hungria</wicri:noCountry></affiliation>Le document en format XML
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Génétique Clinique, CHU de Nantes, Nantes, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, Unité de Génétique Clinique, CHU de Nantes, Nantes</wicri:regionArea></affiliation></author><author><name sortKey="Lyonnet, Stanislas" sort="Lyonnet, Stanislas" uniqKey="Lyonnet S" first="Stanislas" last="Lyonnet">Stanislas Lyonnet</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, Hôpital Necker-Enfants Malades, AP-HP, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Vilain, Catheline" sort="Vilain, Catheline" uniqKey="Vilain C" first="Catheline" last="Vilain">Catheline Vilain</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, Hôpital Erasme, ULB, Brussels, Belgium.</nlm:affiliation><country 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Bordeaux, Laboratoire MRGM, EA4576, Université de Bordeaux, Bordeaux, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, CHU Bordeaux, Laboratoire MRGM, EA4576, Université de Bordeaux, Bordeaux</wicri:regionArea></affiliation></author><author><name sortKey="Odent, Sylvie" sort="Odent, Sylvie" uniqKey="Odent S" first="Sylvie" last="Odent">Sylvie Odent</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Clinique, Hôpital sud, CHU de Rennes, Université Rennes 1, UMR 6290 CNRS, Groupe GPLD, Rennes, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Clinique, Hôpital sud, CHU de Rennes, Université Rennes 1, UMR 6290 CNRS, Groupe GPLD, Rennes</wicri:regionArea></affiliation></author><author><name sortKey="Pasquier, Laurent" sort="Pasquier, Laurent" uniqKey="Pasquier L" first="Laurent" last="Pasquier">Laurent Pasquier</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Clinique, Hôpital sud, CHU de Rennes, Université Rennes 1, UMR 6290 CNRS, Groupe GPLD, Rennes, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Clinique, Hôpital sud, CHU de Rennes, Université Rennes 1, UMR 6290 CNRS, Groupe GPLD, Rennes</wicri:regionArea></affiliation></author><author><name sortKey="Pelras, Sybille" sort="Pelras, Sybille" uniqKey="Pelras S" first="Sybille" last="Pelras">Sybille Pelras</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, CHU Bordeaux, Laboratoire MRGM, EA4576, Université de Bordeaux, Bordeaux, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, CHU Bordeaux, Laboratoire MRGM, EA4576, Université de Bordeaux, Bordeaux</wicri:regionArea></affiliation></author><author><name sortKey="Philip, Nicole" sort="Philip, Nicole" uniqKey="Philip N" first="Nicole" last="Philip">Nicole Philip</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, CHU de Marseille, AP-HM, Marseille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, CHU de Marseille, AP-HM, Marseille</wicri:regionArea></affiliation></author><author><name sortKey="Pierquin, Genevieve" sort="Pierquin, Genevieve" uniqKey="Pierquin G" first="Geneviève" last="Pierquin">Geneviève Pierquin</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, CHU Liège, Liège, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Service de Génétique Médicale, CHU Liège, Liège</wicri:regionArea></affiliation></author><author><name sortKey="Prieur, Fabienne" sort="Prieur, Fabienne" uniqKey="Prieur F" first="Fabienne" last="Prieur">Fabienne Prieur</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, CHU St Etienne, St Etienne, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, CHU St Etienne, St Etienne</wicri:regionArea></affiliation></author><author><name sortKey="Aboussair, Nisrine" sort="Aboussair, Nisrine" uniqKey="Aboussair N" first="Nisrine" last="Aboussair">Nisrine Aboussair</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, Hôpital de Marrakech, Marrakech, Maroc.</nlm:affiliation><country xml:lang="fr">Maroc</country><wicri:regionArea>Service de Génétique Médicale, Hôpital de Marrakech, Marrakech</wicri:regionArea></affiliation></author><author><name sortKey="Attie Bitach, Tania" sort="Attie Bitach, Tania" uniqKey="Attie Bitach T" first="Tania" last="Attie-Bitach">Tania Attie-Bitach</name><affiliation wicri:level="1"><nlm:affiliation>Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Baujat, Genevieve" sort="Baujat, Genevieve" uniqKey="Baujat G" first="Geneviève" last="Baujat">Geneviève Baujat</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, Hôpital Necker-Enfants Malades, AP-HP, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Blanchet, Patricia" sort="Blanchet, Patricia" uniqKey="Blanchet P" first="Patricia" last="Blanchet">Patricia Blanchet</name><affiliation wicri:level="1"><nlm:affiliation>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier</wicri:regionArea></affiliation></author><author><name sortKey="Blanchet, Catherine" sort="Blanchet, Catherine" uniqKey="Blanchet C" first="Catherine" last="Blanchet">Catherine Blanchet</name><affiliation wicri:level="1"><nlm:affiliation>Service d'ORL, Hôpital Lapeyronie, CHRU Montpellier, Montpellier, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service d'ORL, Hôpital Lapeyronie, CHRU Montpellier, Montpellier</wicri:regionArea></affiliation></author><author><name sortKey="Dollfus, Helene" sort="Dollfus, Helene" uniqKey="Dollfus H" first="Hélène" last="Dollfus">Hélène Dollfus</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, CHU Strasbourg, Strasbourg, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, CHU Strasbourg, Strasbourg</wicri:regionArea></affiliation></author><author><name sortKey="Doray, Berenice" sort="Doray, Berenice" uniqKey="Doray B" first="Bérénice" last="Doray">Bérénice Doray</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, CHU Strasbourg, Strasbourg, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, CHU Strasbourg, Strasbourg</wicri:regionArea></affiliation></author><author><name sortKey="Schaefer, Elise" sort="Schaefer, Elise" uniqKey="Schaefer E" first="Elise" last="Schaefer">Elise Schaefer</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, CHU Strasbourg, Strasbourg, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, CHU Strasbourg, Strasbourg</wicri:regionArea></affiliation></author><author><name sortKey="Edery, Patrick" sort="Edery, Patrick" uniqKey="Edery P" first="Patrick" last="Edery">Patrick Edery</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique, Hospices Civils de Lyon, Groupement Hospitalier Est, Hôpital Femme Mère Enfant et Centre de Recherche en Neurosciences de Lyon (CRNL), INSERM U1028, UMR CNRS 5292, Université Claude Bernard Lyon 1, Villeurbanne, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique, Hospices Civils de Lyon, Groupement Hospitalier Est, Hôpital Femme Mère Enfant et Centre de Recherche en Neurosciences de Lyon (CRNL), INSERM U1028, UMR CNRS 5292, Université Claude Bernard Lyon 1, Villeurbanne</wicri:regionArea></affiliation></author><author><name sortKey="Giuliano, Fabienne" sort="Giuliano, Fabienne" uniqKey="Giuliano F" first="Fabienne" last="Giuliano">Fabienne Giuliano</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, CHU Nice, Nice, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, CHU Nice, Nice</wicri:regionArea></affiliation></author><author><name sortKey="Goldenberg, Alice" sort="Goldenberg, Alice" uniqKey="Goldenberg A" first="Alice" last="Goldenberg">Alice Goldenberg</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, CHU Rouen, Rouen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, CHU Rouen, Rouen</wicri:regionArea></affiliation></author><author><name sortKey="Goizet, Cyril" sort="Goizet, Cyril" uniqKey="Goizet C" first="Cyril" last="Goizet">Cyril Goizet</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, CHU Bordeaux, Laboratoire MRGM, EA4576, Université de Bordeaux, Bordeaux, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, CHU Bordeaux, Laboratoire MRGM, EA4576, Université de Bordeaux, Bordeaux</wicri:regionArea></affiliation></author><author><name sortKey="Guichet, Agnes" sort="Guichet, Agnes" uniqKey="Guichet A" first="Agnès" last="Guichet">Agnès Guichet</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, CHU Angers, Angers, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, CHU Angers, Angers</wicri:regionArea></affiliation></author><author><name sortKey="Herlin, Christian" sort="Herlin, Christian" uniqKey="Herlin C" first="Christian" last="Herlin">Christian Herlin</name><affiliation wicri:level="1"><nlm:affiliation>Service de Chirurgie Plastique et Craniofaciale Pédiatrique, CHU Montpellier, Montpellier, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Chirurgie Plastique et Craniofaciale Pédiatrique, CHU Montpellier, Montpellier</wicri:regionArea></affiliation></author><author><name sortKey="Lambert, Laetitia" sort="Lambert, Laetitia" uniqKey="Lambert L" first="Laetitia" last="Lambert">Laetitia Lambert</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Clinique, Pôle de Néonatologie, Maternité Régionale CHRU de Nancy, Nancy, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Clinique, Pôle de Néonatologie, Maternité Régionale CHRU de Nancy, Nancy</wicri:regionArea></affiliation></author><author><name sortKey="Leheup, Bruno" sort="Leheup, Bruno" uniqKey="Leheup B" first="Bruno" last="Leheup">Bruno Leheup</name><affiliation wicri:level="1"><nlm:affiliation>Pôle Enfants, Service de Médecine Infantile et Génétique Clinique, CHU de Nancy, Nancy, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Pôle Enfants, Service de Médecine Infantile et Génétique Clinique, CHU de Nancy, Nancy</wicri:regionArea></affiliation></author><author><name sortKey="Martinovic, Jelena" sort="Martinovic, Jelena" uniqKey="Martinovic J" first="Jelena" last="Martinovic">Jelena Martinovic</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, Hôpital Antoine Béclère, Clamart, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, Hôpital Antoine Béclère, Clamart</wicri:regionArea></affiliation></author><author><name sortKey="Mercier, Sandra" sort="Mercier, Sandra" uniqKey="Mercier S" first="Sandra" last="Mercier">Sandra Mercier</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, Unité de Génétique Clinique, CHU de Nantes, Nantes, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, Unité de Génétique Clinique, CHU de Nantes, Nantes</wicri:regionArea></affiliation></author><author><name sortKey="Mignot, Cyril" sort="Mignot, Cyril" uniqKey="Mignot C" first="Cyril" last="Mignot">Cyril Mignot</name><affiliation wicri:level="1"><nlm:affiliation>APHP, Département de Génétique, Hôpital Trousseau et Groupe Hospitalier Pitié-Salpêtrière, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>APHP, Département de Génétique, Hôpital Trousseau et Groupe Hospitalier Pitié-Salpêtrière, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Moutard, Marie Laure" sort="Moutard, Marie Laure" uniqKey="Moutard M" first="Marie-Laure" last="Moutard">Marie-Laure Moutard</name><affiliation wicri:level="1"><nlm:affiliation>APHP, Service de Neuropédiatrie, Hôpital Trousseau, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>APHP, Service de Neuropédiatrie, Hôpital Trousseau, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Perez, Marie Jose" sort="Perez, Marie Jose" uniqKey="Perez M" first="Marie-José" last="Perez">Marie-José Perez</name><affiliation wicri:level="1"><nlm:affiliation>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier</wicri:regionArea></affiliation></author><author><name sortKey="Pinson, Lucile" sort="Pinson, Lucile" uniqKey="Pinson L" first="Lucile" last="Pinson">Lucile Pinson</name><affiliation wicri:level="1"><nlm:affiliation>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier</wicri:regionArea></affiliation></author><author><name sortKey="Puechberty, Jacques" sort="Puechberty, Jacques" uniqKey="Puechberty J" first="Jacques" last="Puechberty">Jacques Puechberty</name><affiliation wicri:level="1"><nlm:affiliation>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier</wicri:regionArea></affiliation></author><author><name sortKey="Willems, Marjolaine" sort="Willems, Marjolaine" uniqKey="Willems M" first="Marjolaine" last="Willems">Marjolaine Willems</name><affiliation wicri:level="1"><nlm:affiliation>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier</wicri:regionArea></affiliation></author><author><name sortKey="Randrianaivo, Hanitra" sort="Randrianaivo, Hanitra" uniqKey="Randrianaivo H" first="Hanitra" last="Randrianaivo">Hanitra Randrianaivo</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, CHU La Réunion, La Réunion, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, CHU La Réunion, La Réunion</wicri:regionArea></affiliation></author><author><name sortKey="Szakszon, Kateline" sort="Szakszon, Kateline" uniqKey="Szakszon K" first="Kateline" last="Szakszon">Kateline Szakszon</name></author><author><name sortKey="Szaskon, Kateline" sort="Szaskon, Kateline" uniqKey="Szaskon K" first="Kateline" last="Szaskon">Kateline Szaskon</name><affiliation><nlm:affiliation>Klinikai Genetikai Kôzpont, Gyermekklinika, Debrecen, Hungria.</nlm:affiliation><wicri:noCountry code="subField">Hungria</wicri:noCountry></affiliation></author><author><name sortKey="Toutain, Annick" sort="Toutain, Annick" uniqKey="Toutain A" first="Annick" last="Toutain">Annick Toutain</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, CHU Tours, Tours, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, CHU Tours, Tours</wicri:regionArea></affiliation></author><author><name sortKey="Verloes, Alain" sort="Verloes, Alain" uniqKey="Verloes A" first="Alain" last="Verloes">Alain Verloes</name><affiliation wicri:level="1"><nlm:affiliation>Fédération de Génétique, Hôpital Robert Debré, APHP Paris, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Fédération de Génétique, Hôpital Robert Debré, APHP Paris, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Vigneron, Jacqueline" sort="Vigneron, Jacqueline" uniqKey="Vigneron J" first="Jacqueline" last="Vigneron">Jacqueline Vigneron</name><affiliation wicri:level="1"><nlm:affiliation>Pôle Enfants, Service de Médecine Infantile et Génétique Clinique, CHU de Nancy, Nancy, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Pôle Enfants, Service de Médecine Infantile et Génétique Clinique, CHU de Nancy, Nancy</wicri:regionArea></affiliation></author><author><name sortKey="Sanchez, Elodie" sort="Sanchez, Elodie" uniqKey="Sanchez E" first="Elodie" last="Sanchez">Elodie Sanchez</name><affiliation wicri:level="1"><nlm:affiliation>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier</wicri:regionArea></affiliation></author><author><name sortKey="Sarda, Pierre" sort="Sarda, Pierre" uniqKey="Sarda P" first="Pierre" last="Sarda">Pierre Sarda</name><affiliation wicri:level="1"><nlm:affiliation>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier</wicri:regionArea></affiliation></author><author><name sortKey="Laplanche, Jean Louis" sort="Laplanche, Jean Louis" uniqKey="Laplanche J" first="Jean-Louis" last="Laplanche">Jean-Louis Laplanche</name><affiliation wicri:level="1"><nlm:affiliation>UF de Génétique Moléculaire, Service de Biochimie et Biologie Moléculaire, Hôpital Lariboisière, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>UF de Génétique Moléculaire, Service de Biochimie et Biologie Moléculaire, Hôpital Lariboisière, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Collet, Corinne" sort="Collet, Corinne" uniqKey="Collet C" first="Corinne" last="Collet">Corinne Collet</name><affiliation wicri:level="1"><nlm:affiliation>UF de Génétique Moléculaire, Service de Biochimie et Biologie Moléculaire, Hôpital Lariboisière, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>UF de Génétique Moléculaire, Service de Biochimie et Biologie Moléculaire, Hôpital Lariboisière, Paris</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2016">2016</date><idno type="RBID">pubmed:25790162</idno><idno type="pmid">25790162</idno><idno type="doi">10.1038/gim.2015.29</idno><idno type="wicri:Area/PubMed/Corpus">000058</idno><idno type="wicri:Area/PubMed/Curation">000058</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.</title><author><name sortKey="Vincent, Marie" sort="Vincent, Marie" uniqKey="Vincent M" first="Marie" last="Vincent">Marie Vincent</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, Unité de Génétique Clinique, CHU de Nantes, Nantes, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, Unité de Génétique Clinique, CHU de Nantes, Nantes</wicri:regionArea></affiliation></author><author><name sortKey="Genevieve, David" sort="Genevieve, David" uniqKey="Genevieve D" first="David" last="Geneviève">David Geneviève</name><affiliation wicri:level="1"><nlm:affiliation>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier</wicri:regionArea></affiliation></author><author><name sortKey="Ostertag, Agnes" sort="Ostertag, Agnes" uniqKey="Ostertag A" first="Agnès" last="Ostertag">Agnès Ostertag</name><affiliation wicri:level="1"><nlm:affiliation>Inserm U1132, Hôpital Lariboisière, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Inserm U1132, Hôpital Lariboisière, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Marlin, Sandrine" sort="Marlin, Sandrine" uniqKey="Marlin S" first="Sandrine" last="Marlin">Sandrine Marlin</name><affiliation wicri:level="1"><nlm:affiliation>Centre de Référence des Surdités Génétiques, Service de Génétique Médicale, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre de Référence des Surdités Génétiques, Service de Génétique Médicale, Hôpital Necker-Enfants Malades, AP-HP, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Lacombe, Didier" sort="Lacombe, Didier" uniqKey="Lacombe D" first="Didier" last="Lacombe">Didier Lacombe</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, CHU Bordeaux, Laboratoire MRGM, EA4576, Université de Bordeaux, Bordeaux, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, CHU Bordeaux, Laboratoire MRGM, EA4576, Université de Bordeaux, Bordeaux</wicri:regionArea></affiliation></author><author><name sortKey="Martin Coignard, Dominique" sort="Martin Coignard, Dominique" uniqKey="Martin Coignard D" first="Dominique" last="Martin-Coignard">Dominique Martin-Coignard</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, CH Le Mans, Le Mans, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, CH Le Mans, Le Mans</wicri:regionArea></affiliation></author><author><name sortKey="Coubes, Christine" sort="Coubes, Christine" uniqKey="Coubes C" first="Christine" last="Coubes">Christine Coubes</name><affiliation wicri:level="1"><nlm:affiliation>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier</wicri:regionArea></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:affiliation>Service de Génétique Médicale, Unité de Génétique Clinique, CHU de Nantes, Nantes, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, Unité de Génétique Clinique, CHU de Nantes, Nantes</wicri:regionArea></affiliation></author><author><name sortKey="Lyonnet, Stanislas" sort="Lyonnet, Stanislas" uniqKey="Lyonnet S" first="Stanislas" last="Lyonnet">Stanislas Lyonnet</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, Hôpital Necker-Enfants Malades, AP-HP, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Vilain, Catheline" sort="Vilain, Catheline" uniqKey="Vilain C" first="Catheline" last="Vilain">Catheline Vilain</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, Hôpital Erasme, ULB, Brussels, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Service de Génétique Médicale, Hôpital Erasme, ULB, Brussels</wicri:regionArea></affiliation></author><author><name sortKey="Dieux Coeslier, Anne" sort="Dieux Coeslier, Anne" uniqKey="Dieux Coeslier A" first="Anne" last="Dieux-Coeslier">Anne Dieux-Coeslier</name><affiliation wicri:level="1"><nlm:affiliation>Clinique de Génétique "Guy Fontaine," CHRU Lille, Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Clinique de Génétique "Guy Fontaine," CHRU Lille, Lille</wicri:regionArea></affiliation></author><author><name sortKey="Manouvrier, Sylvie" sort="Manouvrier, Sylvie" uniqKey="Manouvrier S" first="Sylvie" last="Manouvrier">Sylvie Manouvrier</name><affiliation wicri:level="1"><nlm:affiliation>Clinique de Génétique "Guy Fontaine," CHRU Lille, Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Clinique de Génétique "Guy Fontaine," CHRU Lille, Lille</wicri:regionArea></affiliation></author><author><name sortKey="Isidor, Bertrand" sort="Isidor, Bertrand" uniqKey="Isidor B" first="Bertrand" last="Isidor">Bertrand Isidor</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, Unité de Génétique Clinique, CHU de Nantes, Nantes, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, Unité de Génétique Clinique, CHU de Nantes, Nantes</wicri:regionArea></affiliation></author><author><name sortKey="Jacquemont, Marie Line" sort="Jacquemont, Marie Line" uniqKey="Jacquemont M" first="Marie-Line" last="Jacquemont">Marie-Line Jacquemont</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, CHU La Réunion, La Réunion, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, CHU La Réunion, La Réunion</wicri:regionArea></affiliation></author><author><name sortKey="Julia, Sophie" sort="Julia, Sophie" uniqKey="Julia S" first="Sophie" last="Julia">Sophie Julia</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, CHU Toulouse, Toulouse, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, CHU Toulouse, Toulouse</wicri:regionArea></affiliation></author><author><name sortKey="Layet, Valerie" sort="Layet, Valerie" uniqKey="Layet V" first="Valérie" last="Layet">Valérie Layet</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, CHG Le Havre, Le Havre, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, CHG Le Havre, Le Havre</wicri:regionArea></affiliation></author><author><name sortKey="Naudion, Sophie" sort="Naudion, Sophie" uniqKey="Naudion S" first="Sophie" last="Naudion">Sophie Naudion</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, CHU Bordeaux, Laboratoire MRGM, EA4576, Université de Bordeaux, Bordeaux, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, CHU Bordeaux, Laboratoire MRGM, EA4576, Université de Bordeaux, Bordeaux</wicri:regionArea></affiliation></author><author><name sortKey="Odent, Sylvie" sort="Odent, Sylvie" uniqKey="Odent S" first="Sylvie" last="Odent">Sylvie Odent</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Clinique, Hôpital sud, CHU de Rennes, Université Rennes 1, UMR 6290 CNRS, Groupe GPLD, Rennes, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Clinique, Hôpital sud, CHU de Rennes, Université Rennes 1, UMR 6290 CNRS, Groupe GPLD, Rennes</wicri:regionArea></affiliation></author><author><name sortKey="Pasquier, Laurent" sort="Pasquier, Laurent" uniqKey="Pasquier L" first="Laurent" last="Pasquier">Laurent Pasquier</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Clinique, Hôpital sud, CHU de Rennes, Université Rennes 1, UMR 6290 CNRS, Groupe GPLD, Rennes, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Clinique, Hôpital sud, CHU de Rennes, Université Rennes 1, UMR 6290 CNRS, Groupe GPLD, Rennes</wicri:regionArea></affiliation></author><author><name sortKey="Pelras, Sybille" sort="Pelras, Sybille" uniqKey="Pelras S" first="Sybille" last="Pelras">Sybille Pelras</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, CHU Bordeaux, Laboratoire MRGM, EA4576, Université de Bordeaux, Bordeaux, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, CHU Bordeaux, Laboratoire MRGM, EA4576, Université de Bordeaux, Bordeaux</wicri:regionArea></affiliation></author><author><name sortKey="Philip, Nicole" sort="Philip, Nicole" uniqKey="Philip N" first="Nicole" last="Philip">Nicole Philip</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, CHU de Marseille, AP-HM, Marseille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, CHU de Marseille, AP-HM, Marseille</wicri:regionArea></affiliation></author><author><name sortKey="Pierquin, Genevieve" sort="Pierquin, Genevieve" uniqKey="Pierquin G" first="Geneviève" last="Pierquin">Geneviève Pierquin</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, CHU Liège, Liège, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Service de Génétique Médicale, CHU Liège, Liège</wicri:regionArea></affiliation></author><author><name sortKey="Prieur, Fabienne" sort="Prieur, Fabienne" uniqKey="Prieur F" first="Fabienne" last="Prieur">Fabienne Prieur</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, CHU St Etienne, St Etienne, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, CHU St Etienne, St Etienne</wicri:regionArea></affiliation></author><author><name sortKey="Aboussair, Nisrine" sort="Aboussair, Nisrine" uniqKey="Aboussair N" first="Nisrine" last="Aboussair">Nisrine Aboussair</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, Hôpital de Marrakech, Marrakech, Maroc.</nlm:affiliation><country xml:lang="fr">Maroc</country><wicri:regionArea>Service de Génétique Médicale, Hôpital de Marrakech, Marrakech</wicri:regionArea></affiliation></author><author><name sortKey="Attie Bitach, Tania" sort="Attie Bitach, Tania" uniqKey="Attie Bitach T" first="Tania" last="Attie-Bitach">Tania Attie-Bitach</name><affiliation wicri:level="1"><nlm:affiliation>Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Baujat, Genevieve" sort="Baujat, Genevieve" uniqKey="Baujat G" first="Geneviève" last="Baujat">Geneviève Baujat</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, Hôpital Necker-Enfants Malades, AP-HP, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Blanchet, Patricia" sort="Blanchet, Patricia" uniqKey="Blanchet P" first="Patricia" last="Blanchet">Patricia Blanchet</name><affiliation wicri:level="1"><nlm:affiliation>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier</wicri:regionArea></affiliation></author><author><name sortKey="Blanchet, Catherine" sort="Blanchet, Catherine" uniqKey="Blanchet C" first="Catherine" last="Blanchet">Catherine Blanchet</name><affiliation wicri:level="1"><nlm:affiliation>Service d'ORL, Hôpital Lapeyronie, CHRU Montpellier, Montpellier, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service d'ORL, Hôpital Lapeyronie, CHRU Montpellier, Montpellier</wicri:regionArea></affiliation></author><author><name sortKey="Dollfus, Helene" sort="Dollfus, Helene" uniqKey="Dollfus H" first="Hélène" last="Dollfus">Hélène Dollfus</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, CHU Strasbourg, Strasbourg, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, CHU Strasbourg, Strasbourg</wicri:regionArea></affiliation></author><author><name sortKey="Doray, Berenice" sort="Doray, Berenice" uniqKey="Doray B" first="Bérénice" last="Doray">Bérénice Doray</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, CHU Strasbourg, Strasbourg, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, CHU Strasbourg, Strasbourg</wicri:regionArea></affiliation></author><author><name sortKey="Schaefer, Elise" sort="Schaefer, Elise" uniqKey="Schaefer E" first="Elise" last="Schaefer">Elise Schaefer</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, CHU Strasbourg, Strasbourg, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, CHU Strasbourg, Strasbourg</wicri:regionArea></affiliation></author><author><name sortKey="Edery, Patrick" sort="Edery, Patrick" uniqKey="Edery P" first="Patrick" last="Edery">Patrick Edery</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique, Hospices Civils de Lyon, Groupement Hospitalier Est, Hôpital Femme Mère Enfant et Centre de Recherche en Neurosciences de Lyon (CRNL), INSERM U1028, UMR CNRS 5292, Université Claude Bernard Lyon 1, Villeurbanne, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique, Hospices Civils de Lyon, Groupement Hospitalier Est, Hôpital Femme Mère Enfant et Centre de Recherche en Neurosciences de Lyon (CRNL), INSERM U1028, UMR CNRS 5292, Université Claude Bernard Lyon 1, Villeurbanne</wicri:regionArea></affiliation></author><author><name sortKey="Giuliano, Fabienne" sort="Giuliano, Fabienne" uniqKey="Giuliano F" first="Fabienne" last="Giuliano">Fabienne Giuliano</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, CHU Nice, Nice, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, CHU Nice, Nice</wicri:regionArea></affiliation></author><author><name sortKey="Goldenberg, Alice" sort="Goldenberg, Alice" uniqKey="Goldenberg A" first="Alice" last="Goldenberg">Alice Goldenberg</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, CHU Rouen, Rouen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, CHU Rouen, Rouen</wicri:regionArea></affiliation></author><author><name sortKey="Goizet, Cyril" sort="Goizet, Cyril" uniqKey="Goizet C" first="Cyril" last="Goizet">Cyril Goizet</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, CHU Bordeaux, Laboratoire MRGM, EA4576, Université de Bordeaux, Bordeaux, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, CHU Bordeaux, Laboratoire MRGM, EA4576, Université de Bordeaux, Bordeaux</wicri:regionArea></affiliation></author><author><name sortKey="Guichet, Agnes" sort="Guichet, Agnes" uniqKey="Guichet A" first="Agnès" last="Guichet">Agnès Guichet</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, CHU Angers, Angers, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, CHU Angers, Angers</wicri:regionArea></affiliation></author><author><name sortKey="Herlin, Christian" sort="Herlin, Christian" uniqKey="Herlin C" first="Christian" last="Herlin">Christian Herlin</name><affiliation wicri:level="1"><nlm:affiliation>Service de Chirurgie Plastique et Craniofaciale Pédiatrique, CHU Montpellier, Montpellier, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Chirurgie Plastique et Craniofaciale Pédiatrique, CHU Montpellier, Montpellier</wicri:regionArea></affiliation></author><author><name sortKey="Lambert, Laetitia" sort="Lambert, Laetitia" uniqKey="Lambert L" first="Laetitia" last="Lambert">Laetitia Lambert</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Clinique, Pôle de Néonatologie, Maternité Régionale CHRU de Nancy, Nancy, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Clinique, Pôle de Néonatologie, Maternité Régionale CHRU de Nancy, Nancy</wicri:regionArea></affiliation></author><author><name sortKey="Leheup, Bruno" sort="Leheup, Bruno" uniqKey="Leheup B" first="Bruno" last="Leheup">Bruno Leheup</name><affiliation wicri:level="1"><nlm:affiliation>Pôle Enfants, Service de Médecine Infantile et Génétique Clinique, CHU de Nancy, Nancy, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Pôle Enfants, Service de Médecine Infantile et Génétique Clinique, CHU de Nancy, Nancy</wicri:regionArea></affiliation></author><author><name sortKey="Martinovic, Jelena" sort="Martinovic, Jelena" uniqKey="Martinovic J" first="Jelena" last="Martinovic">Jelena Martinovic</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, Hôpital Antoine Béclère, Clamart, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, Hôpital Antoine Béclère, Clamart</wicri:regionArea></affiliation></author><author><name sortKey="Mercier, Sandra" sort="Mercier, Sandra" uniqKey="Mercier S" first="Sandra" last="Mercier">Sandra Mercier</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, Unité de Génétique Clinique, CHU de Nantes, Nantes, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, Unité de Génétique Clinique, CHU de Nantes, Nantes</wicri:regionArea></affiliation></author><author><name sortKey="Mignot, Cyril" sort="Mignot, Cyril" uniqKey="Mignot C" first="Cyril" last="Mignot">Cyril Mignot</name><affiliation wicri:level="1"><nlm:affiliation>APHP, Département de Génétique, Hôpital Trousseau et Groupe Hospitalier Pitié-Salpêtrière, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>APHP, Département de Génétique, Hôpital Trousseau et Groupe Hospitalier Pitié-Salpêtrière, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Moutard, Marie Laure" sort="Moutard, Marie Laure" uniqKey="Moutard M" first="Marie-Laure" last="Moutard">Marie-Laure Moutard</name><affiliation wicri:level="1"><nlm:affiliation>APHP, Service de Neuropédiatrie, Hôpital Trousseau, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>APHP, Service de Neuropédiatrie, Hôpital Trousseau, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Perez, Marie Jose" sort="Perez, Marie Jose" uniqKey="Perez M" first="Marie-José" last="Perez">Marie-José Perez</name><affiliation wicri:level="1"><nlm:affiliation>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier</wicri:regionArea></affiliation></author><author><name sortKey="Pinson, Lucile" sort="Pinson, Lucile" uniqKey="Pinson L" first="Lucile" last="Pinson">Lucile Pinson</name><affiliation wicri:level="1"><nlm:affiliation>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier</wicri:regionArea></affiliation></author><author><name sortKey="Puechberty, Jacques" sort="Puechberty, Jacques" uniqKey="Puechberty J" first="Jacques" last="Puechberty">Jacques Puechberty</name><affiliation wicri:level="1"><nlm:affiliation>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier</wicri:regionArea></affiliation></author><author><name sortKey="Willems, Marjolaine" sort="Willems, Marjolaine" uniqKey="Willems M" first="Marjolaine" last="Willems">Marjolaine Willems</name><affiliation wicri:level="1"><nlm:affiliation>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier</wicri:regionArea></affiliation></author><author><name sortKey="Randrianaivo, Hanitra" sort="Randrianaivo, Hanitra" uniqKey="Randrianaivo H" first="Hanitra" last="Randrianaivo">Hanitra Randrianaivo</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, CHU La Réunion, La Réunion, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, CHU La Réunion, La Réunion</wicri:regionArea></affiliation></author><author><name sortKey="Szakszon, Kateline" sort="Szakszon, Kateline" uniqKey="Szakszon K" first="Kateline" last="Szakszon">Kateline Szakszon</name></author><author><name sortKey="Szaskon, Kateline" sort="Szaskon, Kateline" uniqKey="Szaskon K" first="Kateline" last="Szaskon">Kateline Szaskon</name><affiliation><nlm:affiliation>Klinikai Genetikai Kôzpont, Gyermekklinika, Debrecen, Hungria.</nlm:affiliation><wicri:noCountry code="subField">Hungria</wicri:noCountry></affiliation></author><author><name sortKey="Toutain, Annick" sort="Toutain, Annick" uniqKey="Toutain A" first="Annick" last="Toutain">Annick Toutain</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, CHU Tours, Tours, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, CHU Tours, Tours</wicri:regionArea></affiliation></author><author><name sortKey="Verloes, Alain" sort="Verloes, Alain" uniqKey="Verloes A" first="Alain" last="Verloes">Alain Verloes</name><affiliation wicri:level="1"><nlm:affiliation>Fédération de Génétique, Hôpital Robert Debré, APHP Paris, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Fédération de Génétique, Hôpital Robert Debré, APHP Paris, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Vigneron, Jacqueline" sort="Vigneron, Jacqueline" uniqKey="Vigneron J" first="Jacqueline" last="Vigneron">Jacqueline Vigneron</name><affiliation wicri:level="1"><nlm:affiliation>Pôle Enfants, Service de Médecine Infantile et Génétique Clinique, CHU de Nancy, Nancy, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Pôle Enfants, Service de Médecine Infantile et Génétique Clinique, CHU de Nancy, Nancy</wicri:regionArea></affiliation></author><author><name sortKey="Sanchez, Elodie" sort="Sanchez, Elodie" uniqKey="Sanchez E" first="Elodie" last="Sanchez">Elodie Sanchez</name><affiliation wicri:level="1"><nlm:affiliation>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier</wicri:regionArea></affiliation></author><author><name sortKey="Sarda, Pierre" sort="Sarda, Pierre" uniqKey="Sarda P" first="Pierre" last="Sarda">Pierre Sarda</name><affiliation wicri:level="1"><nlm:affiliation>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier</wicri:regionArea></affiliation></author><author><name sortKey="Laplanche, Jean Louis" sort="Laplanche, Jean Louis" uniqKey="Laplanche J" first="Jean-Louis" last="Laplanche">Jean-Louis Laplanche</name><affiliation wicri:level="1"><nlm:affiliation>UF de Génétique Moléculaire, Service de Biochimie et Biologie Moléculaire, Hôpital Lariboisière, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>UF de Génétique Moléculaire, Service de Biochimie et Biologie Moléculaire, Hôpital Lariboisière, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Collet, Corinne" sort="Collet, Corinne" uniqKey="Collet C" first="Corinne" last="Collet">Corinne Collet</name><affiliation wicri:level="1"><nlm:affiliation>UF de Génétique Moléculaire, Service de Biochimie et Biologie Moléculaire, Hôpital Lariboisière, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>UF de Génétique Moléculaire, Service de Biochimie et Biologie Moléculaire, Hôpital Lariboisière, Paris</wicri:regionArea></affiliation></author></analytic><series><title level="j">Genetics in medicine : official journal of the American College of Medical Genetics</title><idno type="eISSN">1530-0366</idno><imprint><date when="2016" type="published">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Amino Acid Sequence</term><term>Base Sequence</term><term>Child</term><term>DNA-Directed RNA Polymerases (genetics)</term><term>Female</term><term>Genetic Association Studies</term><term>Humans</term><term>Male</term><term>Mandibulofacial Dysostosis (diagnosis)</term><term>Mandibulofacial Dysostosis (genetics)</term><term>Microcephaly (genetics)</term><term>Middle Aged</term><term>Molecular Sequence Data</term><term>Mutation</term><term>Nuclear Proteins (genetics)</term><term>Peptide Elongation Factors (genetics)</term><term>Phosphoproteins (genetics)</term><term>Ribonucleoprotein, U5 Small Nuclear (genetics)</term><term>Sequence Deletion</term><term>Young Adult</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA-Directed RNA Polymerases</term><term>Nuclear Proteins</term><term>Peptide Elongation Factors</term><term>Phosphoproteins</term><term>Ribonucleoprotein, U5 Small Nuclear</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Mandibulofacial Dysostosis</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Mandibulofacial Dysostosis</term><term>Microcephaly</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Amino Acid Sequence</term><term>Base Sequence</term><term>Child</term><term>Female</term><term>Genetic Association Studies</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Molecular Sequence Data</term><term>Mutation</term><term>Sequence Deletion</term><term>Young Adult</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Treacher Collins/Franceschetti syndrome (TCS; OMIM 154500) is a disorder of craniofacial development belonging to the heterogeneous group of mandibulofacial dysostoses. TCS is classically characterized by bilateral mandibular and malar hypoplasia, downward-slanting palpebral fissures, and microtia. To date, three genes have been identified in TCS:,TCOF1, POLR1D, and POLR1C.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">25790162</PMID><DateCreated><Year>2016</Year><Month>1</Month><Day>12</Day></DateCreated><DateCompleted><Year>2016</Year><Month>11</Month><Day>03</Day></DateCompleted><DateRevised><Year>2016</Year><Month>11</Month><Day>4</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1530-0366</ISSN><JournalIssue CitedMedium="Internet"><Volume>18</Volume><Issue>1</Issue><PubDate><Year>2016</Year><Month>Jan</Month></PubDate></JournalIssue><Title>Genetics in medicine : official journal of the American College of Medical Genetics</Title><ISOAbbreviation>Genet. Med.</ISOAbbreviation></Journal><ArticleTitle>Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.</ArticleTitle><Pagination><MedlinePgn>49-56</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1038/gim.2015.29</ELocationID><Abstract><AbstractText Label="PURPOSE" NlmCategory="OBJECTIVE">Treacher Collins/Franceschetti syndrome (TCS; OMIM 154500) is a disorder of craniofacial development belonging to the heterogeneous group of mandibulofacial dysostoses. TCS is classically characterized by bilateral mandibular and malar hypoplasia, downward-slanting palpebral fissures, and microtia. To date, three genes have been identified in TCS:,TCOF1, POLR1D, and POLR1C.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">We report a clinical and extensive molecular study, including TCOF1, POLR1D, POLR1C, and EFTUD2 genes, in a series of 146 patients with TCS. Phenotype-genotype correlations were investigated for 19 clinical features, between TCOF1 and POLR1D, and the type of mutation or its localization in the TCOF1 gene.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">We identified 92/146 patients (63%) with a molecular anomaly within TCOF1, 9/146 (6%) within POLR1D, and none within POLR1C. Among the atypical negative patients (with intellectual disability and/or microcephaly), we identified four patients carrying a mutation in EFTUD2 and two patients with 5q32 deletion encompassing TCOF1 and CAMK2A in particular. Congenital cardiac defects occurred more frequently among patients with TCOF1 mutation (7/92, 8%) than reported in the literature.</AbstractText><AbstractText Label="CONCLUSION" NlmCategory="CONCLUSIONS">Even though TCOF1 and POLR1D were associated with extreme clinical variability, we found no phenotype-genotype correlation. In cases with a typical phenotype of TCS, 6/146 (4%) remained with an unidentified molecular defect.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Vincent</LastName><ForeName>Marie</ForeName><Initials>M</Initials><Identifier Source="ORCID">http://orcid.org/0000-0003-1010-5618</Identifier><AffiliationInfo><Affiliation>Service de Génétique Médicale, Unité de Génétique Clinique, CHU de Nantes, Nantes, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Geneviève</LastName><ForeName>David</ForeName><Initials>D</Initials><Identifier Source="ORCID">http://orcid.org/0000-0001-6928-6287</Identifier><AffiliationInfo><Affiliation>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ostertag</LastName><ForeName>Agnès</ForeName><Initials>A</Initials><Identifier Source="ORCID">http://orcid.org/0000-0002-1966-3213</Identifier><AffiliationInfo><Affiliation>Inserm U1132, Hôpital Lariboisière, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Marlin</LastName><ForeName>Sandrine</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Centre de Référence des Surdités Génétiques, Service de Génétique Médicale, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lacombe</LastName><ForeName>Didier</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Service de Génétique Médicale, CHU Bordeaux, Laboratoire MRGM, EA4576, Université de Bordeaux, Bordeaux, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Martin-Coignard</LastName><ForeName>Dominique</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Service de Génétique Médicale, CH Le Mans, Le Mans, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Coubes</LastName><ForeName>Christine</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>David</LastName><ForeName>Albert</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Service de Génétique Médicale, Unité de Génétique Clinique, CHU de Nantes, Nantes, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lyonnet</LastName><ForeName>Stanislas</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Service de Génétique Médicale, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, Paris, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Unité INSERM U-116, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Vilain</LastName><ForeName>Catheline</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Service de Génétique Médicale, Hôpital Erasme, ULB, Brussels, Belgium.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Dieux-Coeslier</LastName><ForeName>Anne</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Clinique de Génétique "Guy Fontaine," CHRU Lille, Lille, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Manouvrier</LastName><ForeName>Sylvie</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Clinique de 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ValidYN="Y"><LastName>Randrianaivo</LastName><ForeName>Hanitra</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>Service de Génétique Médicale, CHU La Réunion, La Réunion, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Szakszon</LastName><ForeName>Kateline</ForeName><Initials>K</Initials></Author><Author ValidYN="N"><LastName>Szaskon</LastName><ForeName>Kateline</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Klinikai Genetikai Kôzpont, Gyermekklinika, Debrecen, Hungria.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Toutain</LastName><ForeName>Annick</ForeName><Initials>A</Initials><Identifier Source="ORCID">http://orcid.org/0000-0002-5999-5300</Identifier><AffiliationInfo><Affiliation>Service de Génétique Médicale, CHU Tours, Tours, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Verloes</LastName><ForeName>Alain</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Fédération de Génétique, Hôpital Robert Debré, APHP Paris, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Vigneron</LastName><ForeName>Jacqueline</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Pôle Enfants, Service de Médecine Infantile et Génétique Clinique, CHU de Nancy, Nancy, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Sanchez</LastName><ForeName>Elodie</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Sarda</LastName><ForeName>Pierre</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Laplanche</LastName><ForeName>Jean-Louis</ForeName><Initials>JL</Initials><AffiliationInfo><Affiliation>UF de Génétique Moléculaire, Service de Biochimie et Biologie Moléculaire, Hôpital Lariboisière, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Collet</LastName><ForeName>Corinne</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>UF de Génétique Moléculaire, Service de Biochimie et Biologie Moléculaire, Hôpital Lariboisière, Paris, France.</Affiliation></AffiliationInfo></Author></AuthorList><Language>ENG</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2015</Year><Month>Mar</Month><Day>19</Day></ArticleDate></Article><MedlineJournalInfo><Country>United 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