Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.
Identifieur interne : 000058 ( PubMed/Corpus ); précédent : 000057; suivant : 000059Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.
Auteurs : Marie Vincent ; David Geneviève ; Agnès Ostertag ; Sandrine Marlin ; Didier Lacombe ; Dominique Martin-Coignard ; Christine Coubes ; Albert David ; Stanislas Lyonnet ; Catheline Vilain ; Anne Dieux-Coeslier ; Sylvie Manouvrier ; Bertrand Isidor ; Marie-Line Jacquemont ; Sophie Julia ; Valérie Layet ; Sophie Naudion ; Sylvie Odent ; Laurent Pasquier ; Sybille Pelras ; Nicole Philip ; Geneviève Pierquin ; Fabienne Prieur ; Nisrine Aboussair ; Tania Attie-Bitach ; Geneviève Baujat ; Patricia Blanchet ; Catherine Blanchet ; Hélène Dollfus ; Bérénice Doray ; Elise Schaefer ; Patrick Edery ; Fabienne Giuliano ; Alice Goldenberg ; Cyril Goizet ; Agnès Guichet ; Christian Herlin ; Laetitia Lambert ; Bruno Leheup ; Jelena Martinovic ; Sandra Mercier ; Cyril Mignot ; Marie-Laure Moutard ; Marie-José Perez ; Lucile Pinson ; Jacques Puechberty ; Marjolaine Willems ; Hanitra Randrianaivo ; Kateline Szakszon ; Kateline Szaskon ; Annick Toutain ; Alain Verloes ; Jacqueline Vigneron ; Elodie Sanchez ; Pierre Sarda ; Jean-Louis Laplanche ; Corinne ColletSource :
- 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
Links to Exploration step
pubmed:25790162Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><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><nlm:affiliation>Service de Génétique Médicale, Unité de Génétique Clinique, CHU de Nantes, Nantes, France.</nlm:affiliation></affiliation></author><author><name sortKey="Genevieve, David" sort="Genevieve, David" uniqKey="Genevieve D" first="David" last="Geneviève">David Geneviève</name><affiliation><nlm:affiliation>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier, France.</nlm:affiliation></affiliation></author><author><name sortKey="Ostertag, Agnes" sort="Ostertag, Agnes" uniqKey="Ostertag A" first="Agnès" last="Ostertag">Agnès Ostertag</name><affiliation><nlm:affiliation>Inserm U1132, Hôpital Lariboisière, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Marlin, Sandrine" sort="Marlin, Sandrine" uniqKey="Marlin S" first="Sandrine" last="Marlin">Sandrine Marlin</name><affiliation><nlm:affiliation>Centre de Référence des Surdités Génétiques, Service de Génétique Médicale, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Lacombe, Didier" sort="Lacombe, Didier" uniqKey="Lacombe D" first="Didier" last="Lacombe">Didier Lacombe</name><affiliation><nlm:affiliation>Service de Génétique Médicale, CHU Bordeaux, Laboratoire MRGM, EA4576, Université de Bordeaux, Bordeaux, France.</nlm:affiliation></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><nlm:affiliation>Service de Génétique Médicale, CH Le Mans, Le Mans, France.</nlm:affiliation></affiliation></author><author><name sortKey="Coubes, Christine" sort="Coubes, Christine" uniqKey="Coubes C" first="Christine" last="Coubes">Christine Coubes</name><affiliation><nlm:affiliation>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier, France.</nlm:affiliation></affiliation></author><author><name sortKey="David, Albert" sort="David, Albert" uniqKey="David A" first="Albert" last="David">Albert David</name><affiliation><nlm:affiliation>Service de Génétique Médicale, Unité de Génétique Clinique, CHU de Nantes, Nantes, France.</nlm:affiliation></affiliation></author><author><name sortKey="Lyonnet, Stanislas" sort="Lyonnet, Stanislas" uniqKey="Lyonnet S" first="Stanislas" last="Lyonnet">Stanislas Lyonnet</name><affiliation><nlm:affiliation>Service de Génétique Médicale, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Vilain, Catheline" sort="Vilain, Catheline" uniqKey="Vilain C" first="Catheline" last="Vilain">Catheline Vilain</name><affiliation><nlm:affiliation>Service de Génétique Médicale, Hôpital Erasme, ULB, Brussels, Belgium.</nlm:affiliation></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><nlm:affiliation>Clinique de Génétique "Guy Fontaine," CHRU Lille, Lille, France.</nlm:affiliation></affiliation></author><author><name sortKey="Manouvrier, Sylvie" sort="Manouvrier, Sylvie" uniqKey="Manouvrier S" first="Sylvie" last="Manouvrier">Sylvie Manouvrier</name><affiliation><nlm:affiliation>Clinique de Génétique "Guy Fontaine," CHRU Lille, Lille, France.</nlm:affiliation></affiliation></author><author><name sortKey="Isidor, Bertrand" sort="Isidor, Bertrand" uniqKey="Isidor B" first="Bertrand" last="Isidor">Bertrand Isidor</name><affiliation><nlm:affiliation>Service de Génétique Médicale, Unité de Génétique Clinique, CHU de Nantes, Nantes, France.</nlm:affiliation></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><nlm:affiliation>Service de Génétique Médicale, CHU La Réunion, La Réunion, France.</nlm:affiliation></affiliation></author><author><name sortKey="Julia, Sophie" sort="Julia, Sophie" uniqKey="Julia S" first="Sophie" last="Julia">Sophie Julia</name><affiliation><nlm:affiliation>Service de Génétique Médicale, CHU Toulouse, Toulouse, France.</nlm:affiliation></affiliation></author><author><name sortKey="Layet, Valerie" sort="Layet, Valerie" uniqKey="Layet V" first="Valérie" last="Layet">Valérie Layet</name><affiliation><nlm:affiliation>Service de Génétique Médicale, CHG Le Havre, Le Havre, France.</nlm:affiliation></affiliation></author><author><name sortKey="Naudion, Sophie" sort="Naudion, Sophie" uniqKey="Naudion S" first="Sophie" last="Naudion">Sophie Naudion</name><affiliation><nlm:affiliation>Service de Génétique Médicale, CHU Bordeaux, Laboratoire MRGM, EA4576, Université de Bordeaux, Bordeaux, France.</nlm:affiliation></affiliation></author><author><name sortKey="Odent, Sylvie" sort="Odent, Sylvie" uniqKey="Odent S" first="Sylvie" last="Odent">Sylvie Odent</name><affiliation><nlm:affiliation>Service de Génétique Clinique, Hôpital sud, CHU de Rennes, Université Rennes 1, UMR 6290 CNRS, Groupe GPLD, Rennes, France.</nlm:affiliation></affiliation></author><author><name sortKey="Pasquier, Laurent" sort="Pasquier, Laurent" uniqKey="Pasquier L" first="Laurent" last="Pasquier">Laurent Pasquier</name><affiliation><nlm:affiliation>Service de Génétique Clinique, Hôpital sud, CHU de Rennes, Université Rennes 1, UMR 6290 CNRS, Groupe GPLD, Rennes, France.</nlm:affiliation></affiliation></author><author><name sortKey="Pelras, Sybille" sort="Pelras, Sybille" uniqKey="Pelras S" first="Sybille" last="Pelras">Sybille Pelras</name><affiliation><nlm:affiliation>Service de Génétique Médicale, CHU Bordeaux, Laboratoire MRGM, EA4576, Université de Bordeaux, Bordeaux, France.</nlm:affiliation></affiliation></author><author><name sortKey="Philip, Nicole" sort="Philip, Nicole" uniqKey="Philip N" first="Nicole" last="Philip">Nicole Philip</name><affiliation><nlm:affiliation>Service de Génétique Médicale, CHU de Marseille, AP-HM, Marseille, France.</nlm:affiliation></affiliation></author><author><name sortKey="Pierquin, Genevieve" sort="Pierquin, Genevieve" uniqKey="Pierquin G" first="Geneviève" last="Pierquin">Geneviève Pierquin</name><affiliation><nlm:affiliation>Service de Génétique Médicale, CHU Liège, Liège, Belgium.</nlm:affiliation></affiliation></author><author><name sortKey="Prieur, Fabienne" sort="Prieur, Fabienne" uniqKey="Prieur F" first="Fabienne" last="Prieur">Fabienne Prieur</name><affiliation><nlm:affiliation>Service de Génétique Médicale, CHU St Etienne, St Etienne, France.</nlm:affiliation></affiliation></author><author><name sortKey="Aboussair, Nisrine" sort="Aboussair, Nisrine" uniqKey="Aboussair N" first="Nisrine" last="Aboussair">Nisrine Aboussair</name><affiliation><nlm:affiliation>Service de Génétique Médicale, Hôpital de Marrakech, Marrakech, Maroc.</nlm:affiliation></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><nlm:affiliation>Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Baujat, Genevieve" sort="Baujat, Genevieve" uniqKey="Baujat G" first="Geneviève" last="Baujat">Geneviève Baujat</name><affiliation><nlm:affiliation>Service de Génétique Médicale, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Blanchet, Patricia" sort="Blanchet, Patricia" uniqKey="Blanchet P" first="Patricia" last="Blanchet">Patricia Blanchet</name><affiliation><nlm:affiliation>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier, France.</nlm:affiliation></affiliation></author><author><name sortKey="Blanchet, Catherine" sort="Blanchet, Catherine" uniqKey="Blanchet C" first="Catherine" last="Blanchet">Catherine Blanchet</name><affiliation><nlm:affiliation>Service d'ORL, Hôpital Lapeyronie, CHRU Montpellier, Montpellier, France.</nlm:affiliation></affiliation></author><author><name sortKey="Dollfus, Helene" sort="Dollfus, Helene" uniqKey="Dollfus H" first="Hélène" last="Dollfus">Hélène Dollfus</name><affiliation><nlm:affiliation>Service de Génétique Médicale, CHU Strasbourg, Strasbourg, France.</nlm:affiliation></affiliation></author><author><name sortKey="Doray, Berenice" sort="Doray, Berenice" uniqKey="Doray B" first="Bérénice" last="Doray">Bérénice Doray</name><affiliation><nlm:affiliation>Service de Génétique Médicale, CHU Strasbourg, Strasbourg, France.</nlm:affiliation></affiliation></author><author><name sortKey="Schaefer, Elise" sort="Schaefer, Elise" uniqKey="Schaefer E" first="Elise" last="Schaefer">Elise Schaefer</name><affiliation><nlm:affiliation>Service de Génétique Médicale, CHU Strasbourg, Strasbourg, France.</nlm:affiliation></affiliation></author><author><name sortKey="Edery, Patrick" sort="Edery, Patrick" uniqKey="Edery P" first="Patrick" last="Edery">Patrick Edery</name><affiliation><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></affiliation></author><author><name sortKey="Giuliano, Fabienne" sort="Giuliano, Fabienne" uniqKey="Giuliano F" first="Fabienne" last="Giuliano">Fabienne Giuliano</name><affiliation><nlm:affiliation>Service de Génétique Médicale, CHU Nice, Nice, France.</nlm:affiliation></affiliation></author><author><name sortKey="Goldenberg, Alice" sort="Goldenberg, Alice" uniqKey="Goldenberg A" first="Alice" last="Goldenberg">Alice Goldenberg</name><affiliation><nlm:affiliation>Service de Génétique Médicale, CHU Rouen, Rouen, France.</nlm:affiliation></affiliation></author><author><name sortKey="Goizet, Cyril" sort="Goizet, Cyril" uniqKey="Goizet C" first="Cyril" last="Goizet">Cyril Goizet</name><affiliation><nlm:affiliation>Service de Génétique Médicale, CHU Bordeaux, Laboratoire MRGM, EA4576, Université de Bordeaux, Bordeaux, France.</nlm:affiliation></affiliation></author><author><name sortKey="Guichet, Agnes" sort="Guichet, Agnes" uniqKey="Guichet A" first="Agnès" last="Guichet">Agnès Guichet</name><affiliation><nlm:affiliation>Service de Génétique Médicale, CHU Angers, Angers, France.</nlm:affiliation></affiliation></author><author><name sortKey="Herlin, Christian" sort="Herlin, Christian" uniqKey="Herlin C" first="Christian" last="Herlin">Christian Herlin</name><affiliation><nlm:affiliation>Service de Chirurgie Plastique et Craniofaciale Pédiatrique, CHU Montpellier, Montpellier, France.</nlm:affiliation></affiliation></author><author><name sortKey="Lambert, Laetitia" sort="Lambert, Laetitia" uniqKey="Lambert L" first="Laetitia" last="Lambert">Laetitia Lambert</name><affiliation><nlm:affiliation>Service de Génétique Clinique, Pôle de Néonatologie, Maternité Régionale CHRU de Nancy, Nancy, France.</nlm:affiliation></affiliation></author><author><name sortKey="Leheup, Bruno" sort="Leheup, Bruno" uniqKey="Leheup B" first="Bruno" last="Leheup">Bruno Leheup</name><affiliation><nlm:affiliation>Pôle Enfants, Service de Médecine Infantile et Génétique Clinique, CHU de Nancy, Nancy, France.</nlm:affiliation></affiliation></author><author><name sortKey="Martinovic, Jelena" sort="Martinovic, Jelena" uniqKey="Martinovic J" first="Jelena" last="Martinovic">Jelena Martinovic</name><affiliation><nlm:affiliation>Service de Génétique Médicale, Hôpital Antoine Béclère, Clamart, France.</nlm:affiliation></affiliation></author><author><name sortKey="Mercier, Sandra" sort="Mercier, Sandra" uniqKey="Mercier S" first="Sandra" last="Mercier">Sandra Mercier</name><affiliation><nlm:affiliation>Service de Génétique Médicale, Unité de Génétique Clinique, CHU de Nantes, Nantes, France.</nlm:affiliation></affiliation></author><author><name sortKey="Mignot, Cyril" sort="Mignot, Cyril" uniqKey="Mignot C" first="Cyril" last="Mignot">Cyril Mignot</name><affiliation><nlm:affiliation>APHP, Département de Génétique, Hôpital Trousseau et Groupe Hospitalier Pitié-Salpêtrière, Paris, France.</nlm:affiliation></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><nlm:affiliation>APHP, Service de Neuropédiatrie, Hôpital Trousseau, Paris, France.</nlm:affiliation></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><nlm:affiliation>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier, France.</nlm:affiliation></affiliation></author><author><name sortKey="Pinson, Lucile" sort="Pinson, Lucile" uniqKey="Pinson L" first="Lucile" last="Pinson">Lucile Pinson</name><affiliation><nlm:affiliation>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier, France.</nlm:affiliation></affiliation></author><author><name sortKey="Puechberty, Jacques" sort="Puechberty, Jacques" uniqKey="Puechberty J" first="Jacques" last="Puechberty">Jacques Puechberty</name><affiliation><nlm:affiliation>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier, France.</nlm:affiliation></affiliation></author><author><name sortKey="Willems, Marjolaine" sort="Willems, Marjolaine" uniqKey="Willems M" first="Marjolaine" last="Willems">Marjolaine Willems</name><affiliation><nlm:affiliation>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier, France.</nlm:affiliation></affiliation></author><author><name sortKey="Randrianaivo, Hanitra" sort="Randrianaivo, Hanitra" uniqKey="Randrianaivo H" first="Hanitra" last="Randrianaivo">Hanitra Randrianaivo</name><affiliation><nlm:affiliation>Service de Génétique Médicale, CHU La Réunion, La Réunion, France.</nlm:affiliation></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></affiliation></author><author><name sortKey="Toutain, Annick" sort="Toutain, Annick" uniqKey="Toutain A" first="Annick" last="Toutain">Annick Toutain</name><affiliation><nlm:affiliation>Service de Génétique Médicale, CHU Tours, Tours, France.</nlm:affiliation></affiliation></author><author><name sortKey="Verloes, Alain" sort="Verloes, Alain" uniqKey="Verloes A" first="Alain" last="Verloes">Alain Verloes</name><affiliation><nlm:affiliation>Fédération de Génétique, Hôpital Robert Debré, APHP Paris, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Vigneron, Jacqueline" sort="Vigneron, Jacqueline" uniqKey="Vigneron J" first="Jacqueline" last="Vigneron">Jacqueline Vigneron</name><affiliation><nlm:affiliation>Pôle Enfants, Service de Médecine Infantile et Génétique Clinique, CHU de Nancy, Nancy, France.</nlm:affiliation></affiliation></author><author><name sortKey="Sanchez, Elodie" sort="Sanchez, Elodie" uniqKey="Sanchez E" first="Elodie" last="Sanchez">Elodie Sanchez</name><affiliation><nlm:affiliation>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier, France.</nlm:affiliation></affiliation></author><author><name sortKey="Sarda, Pierre" sort="Sarda, Pierre" uniqKey="Sarda P" first="Pierre" last="Sarda">Pierre Sarda</name><affiliation><nlm:affiliation>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier, France.</nlm:affiliation></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><nlm:affiliation>UF de Génétique Moléculaire, Service de Biochimie et Biologie Moléculaire, Hôpital Lariboisière, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Collet, Corinne" sort="Collet, Corinne" uniqKey="Collet C" first="Corinne" last="Collet">Corinne Collet</name><affiliation><nlm:affiliation>UF de Génétique Moléculaire, Service de Biochimie et Biologie Moléculaire, Hôpital Lariboisière, Paris, France.</nlm:affiliation></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></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><nlm:affiliation>Service de Génétique Médicale, Unité de Génétique Clinique, CHU de Nantes, Nantes, France.</nlm:affiliation></affiliation></author><author><name sortKey="Genevieve, David" sort="Genevieve, David" uniqKey="Genevieve D" first="David" last="Geneviève">David Geneviève</name><affiliation><nlm:affiliation>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier, France.</nlm:affiliation></affiliation></author><author><name sortKey="Ostertag, Agnes" sort="Ostertag, Agnes" uniqKey="Ostertag A" first="Agnès" last="Ostertag">Agnès Ostertag</name><affiliation><nlm:affiliation>Inserm U1132, Hôpital Lariboisière, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Marlin, Sandrine" sort="Marlin, Sandrine" uniqKey="Marlin S" first="Sandrine" last="Marlin">Sandrine Marlin</name><affiliation><nlm:affiliation>Centre de Référence des Surdités Génétiques, Service de Génétique Médicale, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Lacombe, Didier" sort="Lacombe, Didier" uniqKey="Lacombe D" first="Didier" last="Lacombe">Didier Lacombe</name><affiliation><nlm:affiliation>Service de Génétique Médicale, CHU Bordeaux, Laboratoire MRGM, EA4576, Université de Bordeaux, Bordeaux, France.</nlm:affiliation></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><nlm:affiliation>Service de Génétique Médicale, CH Le Mans, Le Mans, France.</nlm:affiliation></affiliation></author><author><name sortKey="Coubes, Christine" sort="Coubes, Christine" uniqKey="Coubes C" first="Christine" last="Coubes">Christine Coubes</name><affiliation><nlm:affiliation>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier, France.</nlm:affiliation></affiliation></author><author><name sortKey="David, Albert" sort="David, Albert" uniqKey="David A" first="Albert" last="David">Albert David</name><affiliation><nlm:affiliation>Service de Génétique Médicale, Unité de Génétique Clinique, CHU de Nantes, Nantes, France.</nlm:affiliation></affiliation></author><author><name sortKey="Lyonnet, Stanislas" sort="Lyonnet, Stanislas" uniqKey="Lyonnet S" first="Stanislas" last="Lyonnet">Stanislas Lyonnet</name><affiliation><nlm:affiliation>Service de Génétique Médicale, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Vilain, Catheline" sort="Vilain, Catheline" uniqKey="Vilain C" first="Catheline" last="Vilain">Catheline Vilain</name><affiliation><nlm:affiliation>Service de Génétique Médicale, Hôpital Erasme, ULB, Brussels, Belgium.</nlm:affiliation></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><nlm:affiliation>Clinique de Génétique "Guy Fontaine," CHRU Lille, Lille, France.</nlm:affiliation></affiliation></author><author><name sortKey="Manouvrier, Sylvie" sort="Manouvrier, Sylvie" uniqKey="Manouvrier S" first="Sylvie" last="Manouvrier">Sylvie Manouvrier</name><affiliation><nlm:affiliation>Clinique de Génétique "Guy Fontaine," CHRU Lille, Lille, France.</nlm:affiliation></affiliation></author><author><name sortKey="Isidor, Bertrand" sort="Isidor, Bertrand" uniqKey="Isidor B" first="Bertrand" last="Isidor">Bertrand Isidor</name><affiliation><nlm:affiliation>Service de Génétique Médicale, Unité de Génétique Clinique, CHU de Nantes, Nantes, France.</nlm:affiliation></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><nlm:affiliation>Service de Génétique Médicale, CHU La Réunion, La Réunion, France.</nlm:affiliation></affiliation></author><author><name sortKey="Julia, Sophie" sort="Julia, Sophie" uniqKey="Julia S" first="Sophie" last="Julia">Sophie Julia</name><affiliation><nlm:affiliation>Service de Génétique Médicale, CHU Toulouse, Toulouse, France.</nlm:affiliation></affiliation></author><author><name sortKey="Layet, Valerie" sort="Layet, Valerie" uniqKey="Layet V" first="Valérie" last="Layet">Valérie Layet</name><affiliation><nlm:affiliation>Service de Génétique Médicale, CHG Le Havre, Le Havre, France.</nlm:affiliation></affiliation></author><author><name sortKey="Naudion, Sophie" sort="Naudion, Sophie" uniqKey="Naudion S" first="Sophie" last="Naudion">Sophie Naudion</name><affiliation><nlm:affiliation>Service de Génétique Médicale, CHU Bordeaux, Laboratoire MRGM, EA4576, Université de Bordeaux, Bordeaux, France.</nlm:affiliation></affiliation></author><author><name sortKey="Odent, Sylvie" sort="Odent, Sylvie" uniqKey="Odent S" first="Sylvie" last="Odent">Sylvie Odent</name><affiliation><nlm:affiliation>Service de Génétique Clinique, Hôpital sud, CHU de Rennes, Université Rennes 1, UMR 6290 CNRS, Groupe GPLD, Rennes, France.</nlm:affiliation></affiliation></author><author><name sortKey="Pasquier, Laurent" sort="Pasquier, Laurent" uniqKey="Pasquier L" first="Laurent" last="Pasquier">Laurent Pasquier</name><affiliation><nlm:affiliation>Service de Génétique Clinique, Hôpital sud, CHU de Rennes, Université Rennes 1, UMR 6290 CNRS, Groupe GPLD, Rennes, France.</nlm:affiliation></affiliation></author><author><name sortKey="Pelras, Sybille" sort="Pelras, Sybille" uniqKey="Pelras S" first="Sybille" last="Pelras">Sybille Pelras</name><affiliation><nlm:affiliation>Service de Génétique Médicale, CHU Bordeaux, Laboratoire MRGM, EA4576, Université de Bordeaux, Bordeaux, France.</nlm:affiliation></affiliation></author><author><name sortKey="Philip, Nicole" sort="Philip, Nicole" uniqKey="Philip N" first="Nicole" last="Philip">Nicole Philip</name><affiliation><nlm:affiliation>Service de Génétique Médicale, CHU de Marseille, AP-HM, Marseille, France.</nlm:affiliation></affiliation></author><author><name sortKey="Pierquin, Genevieve" sort="Pierquin, Genevieve" uniqKey="Pierquin G" first="Geneviève" last="Pierquin">Geneviève Pierquin</name><affiliation><nlm:affiliation>Service de Génétique Médicale, CHU Liège, Liège, Belgium.</nlm:affiliation></affiliation></author><author><name sortKey="Prieur, Fabienne" sort="Prieur, Fabienne" uniqKey="Prieur F" first="Fabienne" last="Prieur">Fabienne Prieur</name><affiliation><nlm:affiliation>Service de Génétique Médicale, CHU St Etienne, St Etienne, France.</nlm:affiliation></affiliation></author><author><name sortKey="Aboussair, Nisrine" sort="Aboussair, Nisrine" uniqKey="Aboussair N" first="Nisrine" last="Aboussair">Nisrine Aboussair</name><affiliation><nlm:affiliation>Service de Génétique Médicale, Hôpital de Marrakech, Marrakech, Maroc.</nlm:affiliation></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><nlm:affiliation>Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Baujat, Genevieve" sort="Baujat, Genevieve" uniqKey="Baujat G" first="Geneviève" last="Baujat">Geneviève Baujat</name><affiliation><nlm:affiliation>Service de Génétique Médicale, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Blanchet, Patricia" sort="Blanchet, Patricia" uniqKey="Blanchet P" first="Patricia" last="Blanchet">Patricia Blanchet</name><affiliation><nlm:affiliation>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier, France.</nlm:affiliation></affiliation></author><author><name sortKey="Blanchet, Catherine" sort="Blanchet, Catherine" uniqKey="Blanchet C" first="Catherine" last="Blanchet">Catherine Blanchet</name><affiliation><nlm:affiliation>Service d'ORL, Hôpital Lapeyronie, CHRU Montpellier, Montpellier, France.</nlm:affiliation></affiliation></author><author><name sortKey="Dollfus, Helene" sort="Dollfus, Helene" uniqKey="Dollfus H" first="Hélène" last="Dollfus">Hélène Dollfus</name><affiliation><nlm:affiliation>Service de Génétique Médicale, CHU Strasbourg, Strasbourg, France.</nlm:affiliation></affiliation></author><author><name sortKey="Doray, Berenice" sort="Doray, Berenice" uniqKey="Doray B" first="Bérénice" last="Doray">Bérénice Doray</name><affiliation><nlm:affiliation>Service de Génétique Médicale, CHU Strasbourg, Strasbourg, France.</nlm:affiliation></affiliation></author><author><name sortKey="Schaefer, Elise" sort="Schaefer, Elise" uniqKey="Schaefer E" first="Elise" last="Schaefer">Elise Schaefer</name><affiliation><nlm:affiliation>Service de Génétique Médicale, CHU Strasbourg, Strasbourg, France.</nlm:affiliation></affiliation></author><author><name sortKey="Edery, Patrick" sort="Edery, Patrick" uniqKey="Edery P" first="Patrick" last="Edery">Patrick Edery</name><affiliation><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></affiliation></author><author><name sortKey="Giuliano, Fabienne" sort="Giuliano, Fabienne" uniqKey="Giuliano F" first="Fabienne" last="Giuliano">Fabienne Giuliano</name><affiliation><nlm:affiliation>Service de Génétique Médicale, CHU Nice, Nice, France.</nlm:affiliation></affiliation></author><author><name sortKey="Goldenberg, Alice" sort="Goldenberg, Alice" uniqKey="Goldenberg A" first="Alice" last="Goldenberg">Alice Goldenberg</name><affiliation><nlm:affiliation>Service de Génétique Médicale, CHU Rouen, Rouen, France.</nlm:affiliation></affiliation></author><author><name sortKey="Goizet, Cyril" sort="Goizet, Cyril" uniqKey="Goizet C" first="Cyril" last="Goizet">Cyril Goizet</name><affiliation><nlm:affiliation>Service de Génétique Médicale, CHU Bordeaux, Laboratoire MRGM, EA4576, Université de Bordeaux, Bordeaux, France.</nlm:affiliation></affiliation></author><author><name sortKey="Guichet, Agnes" sort="Guichet, Agnes" uniqKey="Guichet A" first="Agnès" last="Guichet">Agnès Guichet</name><affiliation><nlm:affiliation>Service de Génétique Médicale, CHU Angers, Angers, France.</nlm:affiliation></affiliation></author><author><name sortKey="Herlin, Christian" sort="Herlin, Christian" uniqKey="Herlin C" first="Christian" last="Herlin">Christian Herlin</name><affiliation><nlm:affiliation>Service de Chirurgie Plastique et Craniofaciale Pédiatrique, CHU Montpellier, Montpellier, France.</nlm:affiliation></affiliation></author><author><name sortKey="Lambert, Laetitia" sort="Lambert, Laetitia" uniqKey="Lambert L" first="Laetitia" last="Lambert">Laetitia Lambert</name><affiliation><nlm:affiliation>Service de Génétique Clinique, Pôle de Néonatologie, Maternité Régionale CHRU de Nancy, Nancy, France.</nlm:affiliation></affiliation></author><author><name sortKey="Leheup, Bruno" sort="Leheup, Bruno" uniqKey="Leheup B" first="Bruno" last="Leheup">Bruno Leheup</name><affiliation><nlm:affiliation>Pôle Enfants, Service de Médecine Infantile et Génétique Clinique, CHU de Nancy, Nancy, France.</nlm:affiliation></affiliation></author><author><name sortKey="Martinovic, Jelena" sort="Martinovic, Jelena" uniqKey="Martinovic J" first="Jelena" last="Martinovic">Jelena Martinovic</name><affiliation><nlm:affiliation>Service de Génétique Médicale, Hôpital Antoine Béclère, Clamart, France.</nlm:affiliation></affiliation></author><author><name sortKey="Mercier, Sandra" sort="Mercier, Sandra" uniqKey="Mercier S" first="Sandra" last="Mercier">Sandra Mercier</name><affiliation><nlm:affiliation>Service de Génétique Médicale, Unité de Génétique Clinique, CHU de Nantes, Nantes, France.</nlm:affiliation></affiliation></author><author><name sortKey="Mignot, Cyril" sort="Mignot, Cyril" uniqKey="Mignot C" first="Cyril" last="Mignot">Cyril Mignot</name><affiliation><nlm:affiliation>APHP, Département de Génétique, Hôpital Trousseau et Groupe Hospitalier Pitié-Salpêtrière, Paris, France.</nlm:affiliation></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><nlm:affiliation>APHP, Service de Neuropédiatrie, Hôpital Trousseau, Paris, France.</nlm:affiliation></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><nlm:affiliation>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier, France.</nlm:affiliation></affiliation></author><author><name sortKey="Pinson, Lucile" sort="Pinson, Lucile" uniqKey="Pinson L" first="Lucile" last="Pinson">Lucile Pinson</name><affiliation><nlm:affiliation>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier, France.</nlm:affiliation></affiliation></author><author><name sortKey="Puechberty, Jacques" sort="Puechberty, Jacques" uniqKey="Puechberty J" first="Jacques" last="Puechberty">Jacques Puechberty</name><affiliation><nlm:affiliation>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier, France.</nlm:affiliation></affiliation></author><author><name sortKey="Willems, Marjolaine" sort="Willems, Marjolaine" uniqKey="Willems M" first="Marjolaine" last="Willems">Marjolaine Willems</name><affiliation><nlm:affiliation>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier, France.</nlm:affiliation></affiliation></author><author><name sortKey="Randrianaivo, Hanitra" sort="Randrianaivo, Hanitra" uniqKey="Randrianaivo H" first="Hanitra" last="Randrianaivo">Hanitra Randrianaivo</name><affiliation><nlm:affiliation>Service de Génétique Médicale, CHU La Réunion, La Réunion, France.</nlm:affiliation></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></affiliation></author><author><name sortKey="Toutain, Annick" sort="Toutain, Annick" uniqKey="Toutain A" first="Annick" last="Toutain">Annick Toutain</name><affiliation><nlm:affiliation>Service de Génétique Médicale, CHU Tours, Tours, France.</nlm:affiliation></affiliation></author><author><name sortKey="Verloes, Alain" sort="Verloes, Alain" uniqKey="Verloes A" first="Alain" last="Verloes">Alain Verloes</name><affiliation><nlm:affiliation>Fédération de Génétique, Hôpital Robert Debré, APHP Paris, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Vigneron, Jacqueline" sort="Vigneron, Jacqueline" uniqKey="Vigneron J" first="Jacqueline" last="Vigneron">Jacqueline Vigneron</name><affiliation><nlm:affiliation>Pôle Enfants, Service de Médecine Infantile et Génétique Clinique, CHU de Nancy, Nancy, France.</nlm:affiliation></affiliation></author><author><name sortKey="Sanchez, Elodie" sort="Sanchez, Elodie" uniqKey="Sanchez E" first="Elodie" last="Sanchez">Elodie Sanchez</name><affiliation><nlm:affiliation>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier, France.</nlm:affiliation></affiliation></author><author><name sortKey="Sarda, Pierre" sort="Sarda, Pierre" uniqKey="Sarda P" first="Pierre" last="Sarda">Pierre Sarda</name><affiliation><nlm:affiliation>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier, France.</nlm:affiliation></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><nlm:affiliation>UF de Génétique Moléculaire, Service de Biochimie et Biologie Moléculaire, Hôpital Lariboisière, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Collet, Corinne" sort="Collet, Corinne" uniqKey="Collet C" first="Corinne" last="Collet">Corinne Collet</name><affiliation><nlm:affiliation>UF de Génétique Moléculaire, Service de Biochimie et Biologie Moléculaire, Hôpital Lariboisière, Paris, France.</nlm:affiliation></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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