De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.
Identifieur interne : 000E73 ( Main/Exploration ); précédent : 000E72; suivant : 000E74De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.
Auteurs : Christopher T. Gordon [France] ; Shifeng Xue [Singapour] ; Gökhan Yigit [Allemagne] ; Hicham Filali [France] ; Kelan Chen [Australie] ; Nadine Rosin [Allemagne] ; Koh-Ichiro Yoshiura [Japon] ; Myriam Oufadem [France] ; Tamara J. Beck [Australie] ; Ruth Mcgowan [Royaume-Uni] ; Alex C. Magee [Royaume-Uni] ; Janine Altmüller [Allemagne] ; Camille Dion [France] ; Holger Thiele [Allemagne] ; Alexandra D. Gurzau [Australie] ; Peter Nürnberg [Allemagne] ; Dieter Meschede [Allemagne] ; Wolfgang Mühlbauer [Allemagne] ; Nobuhiko Okamoto [Japon] ; Vinod Varghese [Royaume-Uni] ; Rachel Irving [Royaume-Uni] ; Sabine Sigaudy [France] ; Denise Williams [Royaume-Uni] ; S Faisal Ahmed [Royaume-Uni] ; Carine Bonnard [Singapour] ; Mung Kei Kong [Singapour] ; Ilham Ratbi [Maroc] ; Nawfal Fejjal [Maroc] ; Meriem Fikri [Maroc] ; Siham Chafai Elalaoui [Maroc] ; Hallvard Reigstad [Norvège] ; Christine Bole-Feysot [France] ; Patrick Nitschké [France] ; Nicola Ragge [Royaume-Uni] ; Nicolas Lévy [France] ; Gökhan Tunçbilek [Turquie] ; Audrey S M. Teo [Singapour] ; Michael L. Cunningham [États-Unis] ; Abdelaziz Sefiani [Maroc] ; Hülya Kayserili [Turquie] ; James M. Murphy [Australie] ; Chalermpong Chatdokmaiprai [Thaïlande] ; Axel M. Hillmer [Singapour] ; Duangrurdee Wattanasirichaigoon [Thaïlande] ; Stanislas Lyonnet [France] ; Frédérique Magdinier [France] ; Asif Javed [Singapour] ; Marnie E. Blewitt [Australie] ; Jeanne Amiel [France] ; Bernd Wollnik [Allemagne] ; Bruno Reversade [Singapour]Source :
- Nature genetics [ 1546-1718 ] ; 2017.
Descripteurs français
- KwdFr :
- Animaux, Atrésie des choanes (génétique), Dystrophie musculaire facio-scapulo-humérale (génétique), Enfant d'âge préscolaire, Femelle, Humains, Lignée cellulaire, Microphtalmie (génétique), Mutation faux-sens (génétique), Mâle, Nez (malformations), Protéines chromosomiques nonhistones (génétique), Prédisposition génétique à une maladie (génétique), Souris, Souris de lignée C57BL, Xenopus laevis (génétique), Épigenèse génétique (génétique).
- MESH :
- génétique : Atrésie des choanes, Dystrophie musculaire facio-scapulo-humérale, Microphtalmie, Mutation faux-sens, Protéines chromosomiques nonhistones, Prédisposition génétique à une maladie, Xenopus laevis, Épigenèse génétique.
- malformations : Nez.
- Animaux, Enfant d'âge préscolaire, Femelle, Humains, Lignée cellulaire, Mâle, Souris, Souris de lignée C57BL.
English descriptors
- KwdEn :
- Animals, Cell Line, Child, Preschool, Choanal Atresia (genetics), Chromosomal Proteins, Non-Histone (genetics), Epigenesis, Genetic (genetics), Female, Genetic Predisposition to Disease (genetics), Humans, Male, Mice, Mice, Inbred C57BL, Microphthalmos (genetics), Muscular Dystrophy, Facioscapulohumeral (genetics), Mutation, Missense (genetics), Nose (abnormalities), Xenopus laevis (genetics).
- MESH :
- chemical , genetics : Chromosomal Proteins, Non-Histone.
- abnormalities : Nose.
- genetics : Choanal Atresia, Epigenesis, Genetic, Genetic Predisposition to Disease, Microphthalmos, Muscular Dystrophy, Facioscapulohumeral, Mutation, Missense, Xenopus laevis.
- Animals, Cell Line, Child, Preschool, Female, Humans, Male, Mice, Mice, Inbred C57BL.
Abstract
Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects. We report here that missense mutations in the epigenetic regulator SMCHD1 mapping to the extended ATPase domain of the encoded protein cause BAMS in all 14 cases studied. All mutations were de novo where parental DNA was available. Biochemical tests and in vivo assays in Xenopus laevis embryos suggest that these mutations may behave as gain-of-function alleles. This finding is in contrast to the loss-of-function mutations in SMCHD1 that have been associated with facioscapulohumeral muscular dystrophy (FSHD) type 2. Our results establish SMCHD1 as a key player in nasal development and provide biochemical insight into its enzymatic function that may be exploited for development of therapeutics for FSHD.
DOI: 10.1038/ng.3765
PubMed: 28067911
Affiliations:
- Allemagne, Australie, France, Japon, Maroc, Norvège, Royaume-Uni, Singapour, Thaïlande, Turquie, États-Unis
- Angleterre, Basse-Saxe, Bavière, District de Haute-Bavière, Midlands de l'Ouest, Provence-Alpes-Côte d'Azur, Rabat-Salé-Kénitra, Washington (État), Écosse, Île-de-France
- Birmingham, Glasgow, Göttingen, Marseille, Munich, Paris, Rabat
- Université d'Aix-Marseille, Université de Glasgow
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: 001090
- to stream PubMed, to step Curation: 001087
- to stream PubMed, to step Checkpoint: 001087
- to stream Ncbi, to step Merge: 004138
- to stream Ncbi, to step Curation: 004138
- to stream Ncbi, to step Checkpoint: 004138
- to stream Main, to step Merge: 000E68
- to stream Main, to step Curation: 000E73
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.</title><author><name sortKey="Gordon, Christopher T" sort="Gordon, Christopher T" uniqKey="Gordon C" first="Christopher T" last="Gordon">Christopher T. Gordon</name><affiliation wicri:level="3"><nlm:affiliation>Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Xue, Shifeng" sort="Xue, Shifeng" uniqKey="Xue S" first="Shifeng" last="Xue">Shifeng Xue</name><affiliation wicri:level="1"><nlm:affiliation>Human Genetics and Embryology Laboratory, Institute of Medical Biology, A*STAR, Singapore.</nlm:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Human Genetics and Embryology Laboratory, Institute of Medical Biology, A*STAR</wicri:regionArea><wicri:noRegion>A*STAR</wicri:noRegion></affiliation></author><author><name sortKey="Yigit, Gokhan" sort="Yigit, Gokhan" uniqKey="Yigit G" first="Gökhan" last="Yigit">Gökhan Yigit</name><affiliation wicri:level="3"><nlm:affiliation>Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University Medical Center Göttingen, Göttingen</wicri:regionArea><placeName><region type="land" nuts="2">Basse-Saxe</region><settlement type="city">Göttingen</settlement></placeName></affiliation></author><author><name sortKey="Filali, Hicham" sort="Filali, Hicham" uniqKey="Filali H" first="Hicham" last="Filali">Hicham Filali</name><affiliation wicri:level="3"><nlm:affiliation>Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Chen, Kelan" sort="Chen, Kelan" uniqKey="Chen K" first="Kelan" last="Chen">Kelan Chen</name><affiliation wicri:level="1"><nlm:affiliation>Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Rosin, Nadine" sort="Rosin, Nadine" uniqKey="Rosin N" first="Nadine" last="Rosin">Nadine Rosin</name><affiliation wicri:level="3"><nlm:affiliation>Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University Medical Center Göttingen, Göttingen</wicri:regionArea><placeName><region type="land" nuts="2">Basse-Saxe</region><settlement type="city">Göttingen</settlement></placeName></affiliation></author><author><name sortKey="Yoshiura, Koh Ichiro" sort="Yoshiura, Koh Ichiro" uniqKey="Yoshiura K" first="Koh-Ichiro" last="Yoshiura">Koh-Ichiro Yoshiura</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki</wicri:regionArea><wicri:noRegion>Nagasaki</wicri:noRegion></affiliation></author><author><name sortKey="Oufadem, Myriam" sort="Oufadem, Myriam" uniqKey="Oufadem M" first="Myriam" last="Oufadem">Myriam Oufadem</name><affiliation wicri:level="3"><nlm:affiliation>Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Beck, Tamara J" sort="Beck, Tamara J" uniqKey="Beck T" first="Tamara J" last="Beck">Tamara J. Beck</name><affiliation wicri:level="1"><nlm:affiliation>Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Mcgowan, Ruth" sort="Mcgowan, Ruth" uniqKey="Mcgowan R" first="Ruth" last="Mcgowan">Ruth Mcgowan</name><affiliation wicri:level="1"><nlm:affiliation>West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow</wicri:regionArea><wicri:noRegion>Glasgow</wicri:noRegion></affiliation></author><author><name sortKey="Magee, Alex C" sort="Magee, Alex C" uniqKey="Magee A" first="Alex C" last="Magee">Alex C. Magee</name><affiliation wicri:level="1"><nlm:affiliation>Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast</wicri:regionArea><wicri:noRegion>Belfast</wicri:noRegion></affiliation></author><author><name sortKey="Altmuller, Janine" sort="Altmuller, Janine" uniqKey="Altmuller J" first="Janine" last="Altmüller">Janine Altmüller</name><affiliation wicri:level="1"><nlm:affiliation>Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Cologne Center for Genomics (CCG), University of Cologne, Cologne</wicri:regionArea><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion></affiliation></author><author><name sortKey="Dion, Camille" sort="Dion, Camille" uniqKey="Dion C" first="Camille" last="Dion">Camille Dion</name><affiliation wicri:level="4"><nlm:affiliation>Aix Marseille Université, INSERM, Génétique Médicale et Génomique Fonctionnelle (GMGF), UMRS 910, Marseille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Aix Marseille Université, INSERM, Génétique Médicale et Génomique Fonctionnelle (GMGF), UMRS 910, Marseille</wicri:regionArea><placeName><region type="region">Provence-Alpes-Côte d'Azur</region><region type="old region">Provence-Alpes-Côte d'Azur</region><settlement type="city">Marseille</settlement><settlement type="city">Marseille</settlement></placeName><orgName type="university">Université d'Aix-Marseille</orgName></affiliation></author><author><name sortKey="Thiele, Holger" sort="Thiele, Holger" uniqKey="Thiele H" first="Holger" last="Thiele">Holger Thiele</name><affiliation wicri:level="1"><nlm:affiliation>Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Cologne Center for Genomics (CCG), University of Cologne, Cologne</wicri:regionArea><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion></affiliation></author><author><name sortKey="Gurzau, Alexandra D" sort="Gurzau, Alexandra D" uniqKey="Gurzau A" first="Alexandra D" last="Gurzau">Alexandra D. Gurzau</name><affiliation wicri:level="1"><nlm:affiliation>Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Nurnberg, Peter" sort="Nurnberg, Peter" uniqKey="Nurnberg P" first="Peter" last="Nürnberg">Peter Nürnberg</name><affiliation wicri:level="1"><nlm:affiliation>Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Cologne Center for Genomics (CCG), University of Cologne, Cologne</wicri:regionArea><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion></affiliation></author><author><name sortKey="Meschede, Dieter" sort="Meschede, Dieter" uniqKey="Meschede D" first="Dieter" last="Meschede">Dieter Meschede</name><affiliation wicri:level="1"><nlm:affiliation>Praxis für Humangenetik, Cologne, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Praxis für Humangenetik, Cologne</wicri:regionArea><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion></affiliation></author><author><name sortKey="Muhlbauer, Wolfgang" sort="Muhlbauer, Wolfgang" uniqKey="Muhlbauer W" first="Wolfgang" last="Mühlbauer">Wolfgang Mühlbauer</name><affiliation wicri:level="3"><nlm:affiliation>Plastische und Ästhetische Chirurgie, ATOS Klinik München, Munich, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Plastische und Ästhetische Chirurgie, ATOS Klinik München, Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation></author><author><name sortKey="Okamoto, Nobuhiko" sort="Okamoto, Nobuhiko" uniqKey="Okamoto N" first="Nobuhiko" last="Okamoto">Nobuhiko Okamoto</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Osaka, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Osaka</wicri:regionArea><wicri:noRegion>Osaka</wicri:noRegion></affiliation></author><author><name sortKey="Varghese, Vinod" sort="Varghese, Vinod" uniqKey="Varghese V" first="Vinod" last="Varghese">Vinod Varghese</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Medical Genetics, University Hospital of Wales, Cardiff</wicri:regionArea><wicri:noRegion>Cardiff</wicri:noRegion></affiliation></author><author><name sortKey="Irving, Rachel" sort="Irving, Rachel" uniqKey="Irving R" first="Rachel" last="Irving">Rachel Irving</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Medical Genetics, University Hospital of Wales, Cardiff</wicri:regionArea><wicri:noRegion>Cardiff</wicri:noRegion></affiliation></author><author><name sortKey="Sigaudy, Sabine" sort="Sigaudy, Sabine" uniqKey="Sigaudy S" first="Sabine" last="Sigaudy">Sabine Sigaudy</name><affiliation wicri:level="3"><nlm:affiliation>Département de Génétique Médicale, Hôpital Timone Enfant, Assistance Publique-Hôpitaux de Marseille, Marseille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique Médicale, Hôpital Timone Enfant, Assistance Publique-Hôpitaux de Marseille, Marseille</wicri:regionArea><placeName><region type="region">Provence-Alpes-Côte d'Azur</region><region type="old region">Provence-Alpes-Côte d'Azur</region><settlement type="city">Marseille</settlement></placeName></affiliation></author><author><name sortKey="Williams, Denise" sort="Williams, Denise" uniqKey="Williams D" first="Denise" last="Williams">Denise Williams</name><affiliation wicri:level="3"><nlm:affiliation>West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham</wicri:regionArea><placeName><settlement type="city">Birmingham</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Midlands de l'Ouest</region></placeName></affiliation></author><author><name sortKey="Ahmed, S Faisal" sort="Ahmed, S Faisal" uniqKey="Ahmed S" first="S Faisal" last="Ahmed">S Faisal Ahmed</name><affiliation wicri:level="4"><nlm:affiliation>Developmental Endocrinology Research Group, University of Glasgow, RHC, Glasgow, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Developmental Endocrinology Research Group, University of Glasgow, RHC, Glasgow</wicri:regionArea><orgName type="university">Université de Glasgow</orgName><placeName><settlement type="city">Glasgow</settlement><region type="country">Écosse</region></placeName></affiliation></author><author><name sortKey="Bonnard, Carine" sort="Bonnard, Carine" uniqKey="Bonnard C" first="Carine" last="Bonnard">Carine Bonnard</name><affiliation wicri:level="1"><nlm:affiliation>Human Genetics and Embryology Laboratory, Institute of Medical Biology, A*STAR, Singapore.</nlm:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Human Genetics and Embryology Laboratory, Institute of Medical Biology, A*STAR</wicri:regionArea><wicri:noRegion>A*STAR</wicri:noRegion></affiliation></author><author><name sortKey="Kong, Mung Kei" sort="Kong, Mung Kei" uniqKey="Kong M" first="Mung Kei" last="Kong">Mung Kei Kong</name><affiliation wicri:level="1"><nlm:affiliation>Human Genetics and Embryology Laboratory, Institute of Medical Biology, A*STAR, Singapore.</nlm:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Human Genetics and Embryology Laboratory, Institute of Medical Biology, A*STAR</wicri:regionArea><wicri:noRegion>A*STAR</wicri:noRegion></affiliation></author><author><name sortKey="Ratbi, Ilham" sort="Ratbi, Ilham" uniqKey="Ratbi I" first="Ilham" last="Ratbi">Ilham Ratbi</name><affiliation wicri:level="3"><nlm:affiliation>Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Mohammed V University, Rabat, Morocco.</nlm:affiliation><country xml:lang="fr">Maroc</country><wicri:regionArea>Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Mohammed V University, Rabat</wicri:regionArea><placeName><settlement type="city">Rabat</settlement><region nuts="2">Rabat-Salé-Kénitra</region></placeName></affiliation></author><author><name sortKey="Fejjal, Nawfal" sort="Fejjal, Nawfal" uniqKey="Fejjal N" first="Nawfal" last="Fejjal">Nawfal Fejjal</name><affiliation wicri:level="3"><nlm:affiliation>Service de Chirurgie Plastique Pédiatrique, Hôpital d'Enfants, CHU Ibn Sina, Mohammed V University, Rabat, Morocco.</nlm:affiliation><country xml:lang="fr">Maroc</country><wicri:regionArea>Service de Chirurgie Plastique Pédiatrique, Hôpital d'Enfants, CHU Ibn Sina, Mohammed V University, Rabat</wicri:regionArea><placeName><settlement type="city">Rabat</settlement><region nuts="2">Rabat-Salé-Kénitra</region></placeName></affiliation></author><author><name sortKey="Fikri, Meriem" sort="Fikri, Meriem" uniqKey="Fikri M" first="Meriem" last="Fikri">Meriem Fikri</name><affiliation wicri:level="3"><nlm:affiliation>Service de Neuroradiologie, Hôpital des Spécialités, CHU Ibn Sina, Mohammed V University, Rabat, Morocco.</nlm:affiliation><country xml:lang="fr">Maroc</country><wicri:regionArea>Service de Neuroradiologie, Hôpital des Spécialités, CHU Ibn Sina, Mohammed V University, Rabat</wicri:regionArea><placeName><settlement type="city">Rabat</settlement><region nuts="2">Rabat-Salé-Kénitra</region></placeName></affiliation></author><author><name sortKey="Elalaoui, Siham Chafai" sort="Elalaoui, Siham Chafai" uniqKey="Elalaoui S" first="Siham Chafai" last="Elalaoui">Siham Chafai Elalaoui</name><affiliation wicri:level="3"><nlm:affiliation>Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Mohammed V University, Rabat, Morocco.</nlm:affiliation><country xml:lang="fr">Maroc</country><wicri:regionArea>Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Mohammed V University, Rabat</wicri:regionArea><placeName><settlement type="city">Rabat</settlement><region nuts="2">Rabat-Salé-Kénitra</region></placeName></affiliation></author><author><name sortKey="Reigstad, Hallvard" sort="Reigstad, Hallvard" uniqKey="Reigstad H" first="Hallvard" last="Reigstad">Hallvard Reigstad</name><affiliation wicri:level="1"><nlm:affiliation>Neonatal Intensive Care Unit, Children's Department, Haukeland University Hospital, Bergen, Norway.</nlm:affiliation><country xml:lang="fr">Norvège</country><wicri:regionArea>Neonatal Intensive Care Unit, Children's Department, Haukeland University Hospital, Bergen</wicri:regionArea><wicri:noRegion>Bergen</wicri:noRegion></affiliation></author><author><name sortKey="Bole Feysot, Christine" sort="Bole Feysot, Christine" uniqKey="Bole Feysot C" first="Christine" last="Bole-Feysot">Christine Bole-Feysot</name><affiliation wicri:level="3"><nlm:affiliation>Paris Descartes, Sorbonne Paris Cité Université, Institut Imagine, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Paris Descartes, Sorbonne Paris Cité Université, Institut Imagine, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Nitschke, Patrick" sort="Nitschke, Patrick" uniqKey="Nitschke P" first="Patrick" last="Nitschké">Patrick Nitschké</name><affiliation wicri:level="3"><nlm:affiliation>Paris Descartes, Sorbonne Paris Cité Université, Institut Imagine, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Paris Descartes, Sorbonne Paris Cité Université, Institut Imagine, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Ragge, Nicola" sort="Ragge, Nicola" uniqKey="Ragge N" first="Nicola" last="Ragge">Nicola Ragge</name><affiliation wicri:level="3"><nlm:affiliation>West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham</wicri:regionArea><placeName><settlement type="city">Birmingham</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Midlands de l'Ouest</region></placeName></affiliation></author><author><name sortKey="Levy, Nicolas" sort="Levy, Nicolas" uniqKey="Levy N" first="Nicolas" last="Lévy">Nicolas Lévy</name><affiliation wicri:level="4"><nlm:affiliation>Aix Marseille Université, INSERM, Génétique Médicale et Génomique Fonctionnelle (GMGF), UMRS 910, Marseille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Aix Marseille Université, INSERM, Génétique Médicale et Génomique Fonctionnelle (GMGF), UMRS 910, Marseille</wicri:regionArea><placeName><region type="region">Provence-Alpes-Côte d'Azur</region><region type="old region">Provence-Alpes-Côte d'Azur</region><settlement type="city">Marseille</settlement><settlement type="city">Marseille</settlement></placeName><orgName type="university">Université d'Aix-Marseille</orgName></affiliation></author><author><name sortKey="Tuncbilek, Gokhan" sort="Tuncbilek, Gokhan" uniqKey="Tuncbilek G" first="Gökhan" last="Tunçbilek">Gökhan Tunçbilek</name><affiliation wicri:level="1"><nlm:affiliation>Department of Plastic, Reconstructive and Aesthetic Surgery, Hacettepe University Faculty of Medicine, Ankara, Turkey.</nlm:affiliation><country xml:lang="fr">Turquie</country><wicri:regionArea>Department of Plastic, Reconstructive and Aesthetic Surgery, Hacettepe University Faculty of Medicine, Ankara</wicri:regionArea><wicri:noRegion>Ankara</wicri:noRegion></affiliation></author><author><name sortKey="Teo, Audrey S M" sort="Teo, Audrey S M" uniqKey="Teo A" first="Audrey S M" last="Teo">Audrey S M. Teo</name><affiliation wicri:level="1"><nlm:affiliation>Cancer Therapeutics and Stratified Oncology, Genome Institute of Singapore, A*STAR, Singapore.</nlm:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Cancer Therapeutics and Stratified Oncology, Genome Institute of Singapore, A*STAR</wicri:regionArea><wicri:noRegion>A*STAR</wicri:noRegion></affiliation></author><author><name sortKey="Cunningham, Michael L" sort="Cunningham, Michael L" uniqKey="Cunningham M" first="Michael L" last="Cunningham">Michael L. Cunningham</name><affiliation wicri:level="2"><nlm:affiliation>University of Washington Department of Pediatrics, Division of Craniofacial Medicine and Seattle Children's Hospital Craniofacial Center, Seattle, Washington, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>University of Washington Department of Pediatrics, Division of Craniofacial Medicine and Seattle Children's Hospital Craniofacial Center, Seattle, Washington</wicri:regionArea><placeName><region type="state">Washington (État)</region></placeName></affiliation></author><author><name sortKey="Sefiani, Abdelaziz" sort="Sefiani, Abdelaziz" uniqKey="Sefiani A" first="Abdelaziz" last="Sefiani">Abdelaziz Sefiani</name><affiliation wicri:level="3"><nlm:affiliation>Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Mohammed V University, Rabat, Morocco.</nlm:affiliation><country xml:lang="fr">Maroc</country><wicri:regionArea>Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Mohammed V University, Rabat</wicri:regionArea><placeName><settlement type="city">Rabat</settlement><region nuts="2">Rabat-Salé-Kénitra</region></placeName></affiliation></author><author><name sortKey="Kayserili, Hulya" sort="Kayserili, Hulya" uniqKey="Kayserili H" first="Hülya" last="Kayserili">Hülya Kayserili</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey.</nlm:affiliation><country xml:lang="fr">Turquie</country><wicri:regionArea>Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul</wicri:regionArea><wicri:noRegion>Istanbul</wicri:noRegion></affiliation></author><author><name sortKey="Murphy, James M" sort="Murphy, James M" uniqKey="Murphy J" first="James M" last="Murphy">James M. Murphy</name><affiliation wicri:level="1"><nlm:affiliation>Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Chatdokmaiprai, Chalermpong" sort="Chatdokmaiprai, Chalermpong" uniqKey="Chatdokmaiprai C" first="Chalermpong" last="Chatdokmaiprai">Chalermpong Chatdokmaiprai</name><affiliation wicri:level="1"><nlm:affiliation>Plastic and Maxillofacial Surgery, Department of Surgery, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.</nlm:affiliation><country xml:lang="fr">Thaïlande</country><wicri:regionArea>Plastic and Maxillofacial Surgery, Department of Surgery, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok</wicri:regionArea><wicri:noRegion>Bangkok</wicri:noRegion></affiliation></author><author><name sortKey="Hillmer, Axel M" sort="Hillmer, Axel M" uniqKey="Hillmer A" first="Axel M" last="Hillmer">Axel M. Hillmer</name><affiliation wicri:level="1"><nlm:affiliation>Cancer Therapeutics and Stratified Oncology, Genome Institute of Singapore, A*STAR, Singapore.</nlm:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Cancer Therapeutics and Stratified Oncology, Genome Institute of Singapore, A*STAR</wicri:regionArea><wicri:noRegion>A*STAR</wicri:noRegion></affiliation></author><author><name sortKey="Wattanasirichaigoon, Duangrurdee" sort="Wattanasirichaigoon, Duangrurdee" uniqKey="Wattanasirichaigoon D" first="Duangrurdee" last="Wattanasirichaigoon">Duangrurdee Wattanasirichaigoon</name><affiliation wicri:level="1"><nlm:affiliation>Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.</nlm:affiliation><country xml:lang="fr">Thaïlande</country><wicri:regionArea>Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok</wicri:regionArea><wicri:noRegion>Bangkok</wicri:noRegion></affiliation></author><author><name sortKey="Lyonnet, Stanislas" sort="Lyonnet, Stanislas" uniqKey="Lyonnet S" first="Stanislas" last="Lyonnet">Stanislas Lyonnet</name><affiliation wicri:level="3"><nlm:affiliation>Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Magdinier, Frederique" sort="Magdinier, Frederique" uniqKey="Magdinier F" first="Frédérique" last="Magdinier">Frédérique Magdinier</name><affiliation wicri:level="4"><nlm:affiliation>Aix Marseille Université, INSERM, Génétique Médicale et Génomique Fonctionnelle (GMGF), UMRS 910, Marseille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Aix Marseille Université, INSERM, Génétique Médicale et Génomique Fonctionnelle (GMGF), UMRS 910, Marseille</wicri:regionArea><placeName><region type="region">Provence-Alpes-Côte d'Azur</region><region type="old region">Provence-Alpes-Côte d'Azur</region><settlement type="city">Marseille</settlement><settlement type="city">Marseille</settlement></placeName><orgName type="university">Université d'Aix-Marseille</orgName></affiliation></author><author><name sortKey="Javed, Asif" sort="Javed, Asif" uniqKey="Javed A" first="Asif" last="Javed">Asif Javed</name><affiliation wicri:level="1"><nlm:affiliation>Cancer Therapeutics and Stratified Oncology, Genome Institute of Singapore, A*STAR, Singapore.</nlm:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Cancer Therapeutics and Stratified Oncology, Genome Institute of Singapore, A*STAR</wicri:regionArea><wicri:noRegion>A*STAR</wicri:noRegion></affiliation></author><author><name sortKey="Blewitt, Marnie E" sort="Blewitt, Marnie E" uniqKey="Blewitt M" first="Marnie E" last="Blewitt">Marnie E. Blewitt</name><affiliation wicri:level="1"><nlm:affiliation>Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Amiel, Jeanne" sort="Amiel, Jeanne" uniqKey="Amiel J" first="Jeanne" last="Amiel">Jeanne Amiel</name><affiliation wicri:level="3"><nlm:affiliation>Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Wollnik, Bernd" sort="Wollnik, Bernd" uniqKey="Wollnik B" first="Bernd" last="Wollnik">Bernd Wollnik</name><affiliation wicri:level="3"><nlm:affiliation>Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University Medical Center Göttingen, Göttingen</wicri:regionArea><placeName><region type="land" nuts="2">Basse-Saxe</region><settlement type="city">Göttingen</settlement></placeName></affiliation></author><author><name sortKey="Reversade, Bruno" sort="Reversade, Bruno" uniqKey="Reversade B" first="Bruno" last="Reversade">Bruno Reversade</name><affiliation wicri:level="1"><nlm:affiliation>Human Genetics and Embryology Laboratory, Institute of Medical Biology, A*STAR, Singapore.</nlm:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Human Genetics and Embryology Laboratory, Institute of Medical Biology, A*STAR</wicri:regionArea><wicri:noRegion>A*STAR</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2017">2017</date><idno type="RBID">pubmed:28067911</idno><idno type="pmid">28067911</idno><idno type="doi">10.1038/ng.3765</idno><idno type="wicri:Area/PubMed/Corpus">001090</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001090</idno><idno type="wicri:Area/PubMed/Curation">001087</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">001087</idno><idno type="wicri:Area/PubMed/Checkpoint">001087</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">001087</idno><idno type="wicri:Area/Ncbi/Merge">004138</idno><idno type="wicri:Area/Ncbi/Curation">004138</idno><idno type="wicri:Area/Ncbi/Checkpoint">004138</idno><idno type="wicri:Area/Main/Merge">000E68</idno><idno type="wicri:Area/Main/Curation">000E73</idno><idno type="wicri:Area/Main/Exploration">000E73</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.</title><author><name sortKey="Gordon, Christopher T" sort="Gordon, Christopher T" uniqKey="Gordon C" first="Christopher T" last="Gordon">Christopher T. Gordon</name><affiliation wicri:level="3"><nlm:affiliation>Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Xue, Shifeng" sort="Xue, Shifeng" uniqKey="Xue S" first="Shifeng" last="Xue">Shifeng Xue</name><affiliation wicri:level="1"><nlm:affiliation>Human Genetics and Embryology Laboratory, Institute of Medical Biology, A*STAR, Singapore.</nlm:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Human Genetics and Embryology Laboratory, Institute of Medical Biology, A*STAR</wicri:regionArea><wicri:noRegion>A*STAR</wicri:noRegion></affiliation></author><author><name sortKey="Yigit, Gokhan" sort="Yigit, Gokhan" uniqKey="Yigit G" first="Gökhan" last="Yigit">Gökhan Yigit</name><affiliation wicri:level="3"><nlm:affiliation>Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University Medical Center Göttingen, Göttingen</wicri:regionArea><placeName><region type="land" nuts="2">Basse-Saxe</region><settlement type="city">Göttingen</settlement></placeName></affiliation></author><author><name sortKey="Filali, Hicham" sort="Filali, Hicham" uniqKey="Filali H" first="Hicham" last="Filali">Hicham Filali</name><affiliation wicri:level="3"><nlm:affiliation>Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Chen, Kelan" sort="Chen, Kelan" uniqKey="Chen K" first="Kelan" last="Chen">Kelan Chen</name><affiliation wicri:level="1"><nlm:affiliation>Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Rosin, Nadine" sort="Rosin, Nadine" uniqKey="Rosin N" first="Nadine" last="Rosin">Nadine Rosin</name><affiliation wicri:level="3"><nlm:affiliation>Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University Medical Center Göttingen, Göttingen</wicri:regionArea><placeName><region type="land" nuts="2">Basse-Saxe</region><settlement type="city">Göttingen</settlement></placeName></affiliation></author><author><name sortKey="Yoshiura, Koh Ichiro" sort="Yoshiura, Koh Ichiro" uniqKey="Yoshiura K" first="Koh-Ichiro" last="Yoshiura">Koh-Ichiro Yoshiura</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki</wicri:regionArea><wicri:noRegion>Nagasaki</wicri:noRegion></affiliation></author><author><name sortKey="Oufadem, Myriam" sort="Oufadem, Myriam" uniqKey="Oufadem M" first="Myriam" last="Oufadem">Myriam Oufadem</name><affiliation wicri:level="3"><nlm:affiliation>Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Beck, Tamara J" sort="Beck, Tamara J" uniqKey="Beck T" first="Tamara J" last="Beck">Tamara J. Beck</name><affiliation wicri:level="1"><nlm:affiliation>Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Mcgowan, Ruth" sort="Mcgowan, Ruth" uniqKey="Mcgowan R" first="Ruth" last="Mcgowan">Ruth Mcgowan</name><affiliation wicri:level="1"><nlm:affiliation>West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow</wicri:regionArea><wicri:noRegion>Glasgow</wicri:noRegion></affiliation></author><author><name sortKey="Magee, Alex C" sort="Magee, Alex C" uniqKey="Magee A" first="Alex C" last="Magee">Alex C. Magee</name><affiliation wicri:level="1"><nlm:affiliation>Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast</wicri:regionArea><wicri:noRegion>Belfast</wicri:noRegion></affiliation></author><author><name sortKey="Altmuller, Janine" sort="Altmuller, Janine" uniqKey="Altmuller J" first="Janine" last="Altmüller">Janine Altmüller</name><affiliation wicri:level="1"><nlm:affiliation>Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Cologne Center for Genomics (CCG), University of Cologne, Cologne</wicri:regionArea><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion></affiliation></author><author><name sortKey="Dion, Camille" sort="Dion, Camille" uniqKey="Dion C" first="Camille" last="Dion">Camille Dion</name><affiliation wicri:level="4"><nlm:affiliation>Aix Marseille Université, INSERM, Génétique Médicale et Génomique Fonctionnelle (GMGF), UMRS 910, Marseille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Aix Marseille Université, INSERM, Génétique Médicale et Génomique Fonctionnelle (GMGF), UMRS 910, Marseille</wicri:regionArea><placeName><region type="region">Provence-Alpes-Côte d'Azur</region><region type="old region">Provence-Alpes-Côte d'Azur</region><settlement type="city">Marseille</settlement><settlement type="city">Marseille</settlement></placeName><orgName type="university">Université d'Aix-Marseille</orgName></affiliation></author><author><name sortKey="Thiele, Holger" sort="Thiele, Holger" uniqKey="Thiele H" first="Holger" last="Thiele">Holger Thiele</name><affiliation wicri:level="1"><nlm:affiliation>Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Cologne Center for Genomics (CCG), University of Cologne, Cologne</wicri:regionArea><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion></affiliation></author><author><name sortKey="Gurzau, Alexandra D" sort="Gurzau, Alexandra D" uniqKey="Gurzau A" first="Alexandra D" last="Gurzau">Alexandra D. Gurzau</name><affiliation wicri:level="1"><nlm:affiliation>Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Nurnberg, Peter" sort="Nurnberg, Peter" uniqKey="Nurnberg P" first="Peter" last="Nürnberg">Peter Nürnberg</name><affiliation wicri:level="1"><nlm:affiliation>Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Cologne Center for Genomics (CCG), University of Cologne, Cologne</wicri:regionArea><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion></affiliation></author><author><name sortKey="Meschede, Dieter" sort="Meschede, Dieter" uniqKey="Meschede D" first="Dieter" last="Meschede">Dieter Meschede</name><affiliation wicri:level="1"><nlm:affiliation>Praxis für Humangenetik, Cologne, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Praxis für Humangenetik, Cologne</wicri:regionArea><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion></affiliation></author><author><name sortKey="Muhlbauer, Wolfgang" sort="Muhlbauer, Wolfgang" uniqKey="Muhlbauer W" first="Wolfgang" last="Mühlbauer">Wolfgang Mühlbauer</name><affiliation wicri:level="3"><nlm:affiliation>Plastische und Ästhetische Chirurgie, ATOS Klinik München, Munich, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Plastische und Ästhetische Chirurgie, ATOS Klinik München, Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation></author><author><name sortKey="Okamoto, Nobuhiko" sort="Okamoto, Nobuhiko" uniqKey="Okamoto N" first="Nobuhiko" last="Okamoto">Nobuhiko Okamoto</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Osaka, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Osaka</wicri:regionArea><wicri:noRegion>Osaka</wicri:noRegion></affiliation></author><author><name sortKey="Varghese, Vinod" sort="Varghese, Vinod" uniqKey="Varghese V" first="Vinod" last="Varghese">Vinod Varghese</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Medical Genetics, University Hospital of Wales, Cardiff</wicri:regionArea><wicri:noRegion>Cardiff</wicri:noRegion></affiliation></author><author><name sortKey="Irving, Rachel" sort="Irving, Rachel" uniqKey="Irving R" first="Rachel" last="Irving">Rachel Irving</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Medical Genetics, University Hospital of Wales, Cardiff</wicri:regionArea><wicri:noRegion>Cardiff</wicri:noRegion></affiliation></author><author><name sortKey="Sigaudy, Sabine" sort="Sigaudy, Sabine" uniqKey="Sigaudy S" first="Sabine" last="Sigaudy">Sabine Sigaudy</name><affiliation wicri:level="3"><nlm:affiliation>Département de Génétique Médicale, Hôpital Timone Enfant, Assistance Publique-Hôpitaux de Marseille, Marseille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique Médicale, Hôpital Timone Enfant, Assistance Publique-Hôpitaux de Marseille, Marseille</wicri:regionArea><placeName><region type="region">Provence-Alpes-Côte d'Azur</region><region type="old region">Provence-Alpes-Côte d'Azur</region><settlement type="city">Marseille</settlement></placeName></affiliation></author><author><name sortKey="Williams, Denise" sort="Williams, Denise" uniqKey="Williams D" first="Denise" last="Williams">Denise Williams</name><affiliation wicri:level="3"><nlm:affiliation>West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham</wicri:regionArea><placeName><settlement type="city">Birmingham</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Midlands de l'Ouest</region></placeName></affiliation></author><author><name sortKey="Ahmed, S Faisal" sort="Ahmed, S Faisal" uniqKey="Ahmed S" first="S Faisal" last="Ahmed">S Faisal Ahmed</name><affiliation wicri:level="4"><nlm:affiliation>Developmental Endocrinology Research Group, University of Glasgow, RHC, Glasgow, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Developmental Endocrinology Research Group, University of Glasgow, RHC, Glasgow</wicri:regionArea><orgName type="university">Université de Glasgow</orgName><placeName><settlement type="city">Glasgow</settlement><region type="country">Écosse</region></placeName></affiliation></author><author><name sortKey="Bonnard, Carine" sort="Bonnard, Carine" uniqKey="Bonnard C" first="Carine" last="Bonnard">Carine Bonnard</name><affiliation wicri:level="1"><nlm:affiliation>Human Genetics and Embryology Laboratory, Institute of Medical Biology, A*STAR, Singapore.</nlm:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Human Genetics and Embryology Laboratory, Institute of Medical Biology, A*STAR</wicri:regionArea><wicri:noRegion>A*STAR</wicri:noRegion></affiliation></author><author><name sortKey="Kong, Mung Kei" sort="Kong, Mung Kei" uniqKey="Kong M" first="Mung Kei" last="Kong">Mung Kei Kong</name><affiliation wicri:level="1"><nlm:affiliation>Human Genetics and Embryology Laboratory, Institute of Medical Biology, A*STAR, Singapore.</nlm:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Human Genetics and Embryology Laboratory, Institute of Medical Biology, A*STAR</wicri:regionArea><wicri:noRegion>A*STAR</wicri:noRegion></affiliation></author><author><name sortKey="Ratbi, Ilham" sort="Ratbi, Ilham" uniqKey="Ratbi I" first="Ilham" last="Ratbi">Ilham Ratbi</name><affiliation wicri:level="3"><nlm:affiliation>Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Mohammed V University, Rabat, Morocco.</nlm:affiliation><country xml:lang="fr">Maroc</country><wicri:regionArea>Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Mohammed V University, Rabat</wicri:regionArea><placeName><settlement type="city">Rabat</settlement><region nuts="2">Rabat-Salé-Kénitra</region></placeName></affiliation></author><author><name sortKey="Fejjal, Nawfal" sort="Fejjal, Nawfal" uniqKey="Fejjal N" first="Nawfal" last="Fejjal">Nawfal Fejjal</name><affiliation wicri:level="3"><nlm:affiliation>Service de Chirurgie Plastique Pédiatrique, Hôpital d'Enfants, CHU Ibn Sina, Mohammed V University, Rabat, Morocco.</nlm:affiliation><country xml:lang="fr">Maroc</country><wicri:regionArea>Service de Chirurgie Plastique Pédiatrique, Hôpital d'Enfants, CHU Ibn Sina, Mohammed V University, Rabat</wicri:regionArea><placeName><settlement type="city">Rabat</settlement><region nuts="2">Rabat-Salé-Kénitra</region></placeName></affiliation></author><author><name sortKey="Fikri, Meriem" sort="Fikri, Meriem" uniqKey="Fikri M" first="Meriem" last="Fikri">Meriem Fikri</name><affiliation wicri:level="3"><nlm:affiliation>Service de Neuroradiologie, Hôpital des Spécialités, CHU Ibn Sina, Mohammed V University, Rabat, Morocco.</nlm:affiliation><country xml:lang="fr">Maroc</country><wicri:regionArea>Service de Neuroradiologie, Hôpital des Spécialités, CHU Ibn Sina, Mohammed V University, Rabat</wicri:regionArea><placeName><settlement type="city">Rabat</settlement><region nuts="2">Rabat-Salé-Kénitra</region></placeName></affiliation></author><author><name sortKey="Elalaoui, Siham Chafai" sort="Elalaoui, Siham Chafai" uniqKey="Elalaoui S" first="Siham Chafai" last="Elalaoui">Siham Chafai Elalaoui</name><affiliation wicri:level="3"><nlm:affiliation>Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Mohammed V University, Rabat, Morocco.</nlm:affiliation><country xml:lang="fr">Maroc</country><wicri:regionArea>Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Mohammed V University, Rabat</wicri:regionArea><placeName><settlement type="city">Rabat</settlement><region nuts="2">Rabat-Salé-Kénitra</region></placeName></affiliation></author><author><name sortKey="Reigstad, Hallvard" sort="Reigstad, Hallvard" uniqKey="Reigstad H" first="Hallvard" last="Reigstad">Hallvard Reigstad</name><affiliation wicri:level="1"><nlm:affiliation>Neonatal Intensive Care Unit, Children's Department, Haukeland University Hospital, Bergen, Norway.</nlm:affiliation><country xml:lang="fr">Norvège</country><wicri:regionArea>Neonatal Intensive Care Unit, Children's Department, Haukeland University Hospital, Bergen</wicri:regionArea><wicri:noRegion>Bergen</wicri:noRegion></affiliation></author><author><name sortKey="Bole Feysot, Christine" sort="Bole Feysot, Christine" uniqKey="Bole Feysot C" first="Christine" last="Bole-Feysot">Christine Bole-Feysot</name><affiliation wicri:level="3"><nlm:affiliation>Paris Descartes, Sorbonne Paris Cité Université, Institut Imagine, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Paris Descartes, Sorbonne Paris Cité Université, Institut Imagine, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Nitschke, Patrick" sort="Nitschke, Patrick" uniqKey="Nitschke P" first="Patrick" last="Nitschké">Patrick Nitschké</name><affiliation wicri:level="3"><nlm:affiliation>Paris Descartes, Sorbonne Paris Cité Université, Institut Imagine, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Paris Descartes, Sorbonne Paris Cité Université, Institut Imagine, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Ragge, Nicola" sort="Ragge, Nicola" uniqKey="Ragge N" first="Nicola" last="Ragge">Nicola Ragge</name><affiliation wicri:level="3"><nlm:affiliation>West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham</wicri:regionArea><placeName><settlement type="city">Birmingham</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Midlands de l'Ouest</region></placeName></affiliation></author><author><name sortKey="Levy, Nicolas" sort="Levy, Nicolas" uniqKey="Levy N" first="Nicolas" last="Lévy">Nicolas Lévy</name><affiliation wicri:level="4"><nlm:affiliation>Aix Marseille Université, INSERM, Génétique Médicale et Génomique Fonctionnelle (GMGF), UMRS 910, Marseille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Aix Marseille Université, INSERM, Génétique Médicale et Génomique Fonctionnelle (GMGF), UMRS 910, Marseille</wicri:regionArea><placeName><region type="region">Provence-Alpes-Côte d'Azur</region><region type="old region">Provence-Alpes-Côte d'Azur</region><settlement type="city">Marseille</settlement><settlement type="city">Marseille</settlement></placeName><orgName type="university">Université d'Aix-Marseille</orgName></affiliation></author><author><name sortKey="Tuncbilek, Gokhan" sort="Tuncbilek, Gokhan" uniqKey="Tuncbilek G" first="Gökhan" last="Tunçbilek">Gökhan Tunçbilek</name><affiliation wicri:level="1"><nlm:affiliation>Department of Plastic, Reconstructive and Aesthetic Surgery, Hacettepe University Faculty of Medicine, Ankara, Turkey.</nlm:affiliation><country xml:lang="fr">Turquie</country><wicri:regionArea>Department of Plastic, Reconstructive and Aesthetic Surgery, Hacettepe University Faculty of Medicine, Ankara</wicri:regionArea><wicri:noRegion>Ankara</wicri:noRegion></affiliation></author><author><name sortKey="Teo, Audrey S M" sort="Teo, Audrey S M" uniqKey="Teo A" first="Audrey S M" last="Teo">Audrey S M. Teo</name><affiliation wicri:level="1"><nlm:affiliation>Cancer Therapeutics and Stratified Oncology, Genome Institute of Singapore, A*STAR, Singapore.</nlm:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Cancer Therapeutics and Stratified Oncology, Genome Institute of Singapore, A*STAR</wicri:regionArea><wicri:noRegion>A*STAR</wicri:noRegion></affiliation></author><author><name sortKey="Cunningham, Michael L" sort="Cunningham, Michael L" uniqKey="Cunningham M" first="Michael L" last="Cunningham">Michael L. Cunningham</name><affiliation wicri:level="2"><nlm:affiliation>University of Washington Department of Pediatrics, Division of Craniofacial Medicine and Seattle Children's Hospital Craniofacial Center, Seattle, Washington, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>University of Washington Department of Pediatrics, Division of Craniofacial Medicine and Seattle Children's Hospital Craniofacial Center, Seattle, Washington</wicri:regionArea><placeName><region type="state">Washington (État)</region></placeName></affiliation></author><author><name sortKey="Sefiani, Abdelaziz" sort="Sefiani, Abdelaziz" uniqKey="Sefiani A" first="Abdelaziz" last="Sefiani">Abdelaziz Sefiani</name><affiliation wicri:level="3"><nlm:affiliation>Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Mohammed V University, Rabat, Morocco.</nlm:affiliation><country xml:lang="fr">Maroc</country><wicri:regionArea>Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Mohammed V University, Rabat</wicri:regionArea><placeName><settlement type="city">Rabat</settlement><region nuts="2">Rabat-Salé-Kénitra</region></placeName></affiliation></author><author><name sortKey="Kayserili, Hulya" sort="Kayserili, Hulya" uniqKey="Kayserili H" first="Hülya" last="Kayserili">Hülya Kayserili</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey.</nlm:affiliation><country xml:lang="fr">Turquie</country><wicri:regionArea>Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul</wicri:regionArea><wicri:noRegion>Istanbul</wicri:noRegion></affiliation></author><author><name sortKey="Murphy, James M" sort="Murphy, James M" uniqKey="Murphy J" first="James M" last="Murphy">James M. Murphy</name><affiliation wicri:level="1"><nlm:affiliation>Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Chatdokmaiprai, Chalermpong" sort="Chatdokmaiprai, Chalermpong" uniqKey="Chatdokmaiprai C" first="Chalermpong" last="Chatdokmaiprai">Chalermpong Chatdokmaiprai</name><affiliation wicri:level="1"><nlm:affiliation>Plastic and Maxillofacial Surgery, Department of Surgery, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.</nlm:affiliation><country xml:lang="fr">Thaïlande</country><wicri:regionArea>Plastic and Maxillofacial Surgery, Department of Surgery, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok</wicri:regionArea><wicri:noRegion>Bangkok</wicri:noRegion></affiliation></author><author><name sortKey="Hillmer, Axel M" sort="Hillmer, Axel M" uniqKey="Hillmer A" first="Axel M" last="Hillmer">Axel M. Hillmer</name><affiliation wicri:level="1"><nlm:affiliation>Cancer Therapeutics and Stratified Oncology, Genome Institute of Singapore, A*STAR, Singapore.</nlm:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Cancer Therapeutics and Stratified Oncology, Genome Institute of Singapore, A*STAR</wicri:regionArea><wicri:noRegion>A*STAR</wicri:noRegion></affiliation></author><author><name sortKey="Wattanasirichaigoon, Duangrurdee" sort="Wattanasirichaigoon, Duangrurdee" uniqKey="Wattanasirichaigoon D" first="Duangrurdee" last="Wattanasirichaigoon">Duangrurdee Wattanasirichaigoon</name><affiliation wicri:level="1"><nlm:affiliation>Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.</nlm:affiliation><country xml:lang="fr">Thaïlande</country><wicri:regionArea>Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok</wicri:regionArea><wicri:noRegion>Bangkok</wicri:noRegion></affiliation></author><author><name sortKey="Lyonnet, Stanislas" sort="Lyonnet, Stanislas" uniqKey="Lyonnet S" first="Stanislas" last="Lyonnet">Stanislas Lyonnet</name><affiliation wicri:level="3"><nlm:affiliation>Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Magdinier, Frederique" sort="Magdinier, Frederique" uniqKey="Magdinier F" first="Frédérique" last="Magdinier">Frédérique Magdinier</name><affiliation wicri:level="4"><nlm:affiliation>Aix Marseille Université, INSERM, Génétique Médicale et Génomique Fonctionnelle (GMGF), UMRS 910, Marseille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Aix Marseille Université, INSERM, Génétique Médicale et Génomique Fonctionnelle (GMGF), UMRS 910, Marseille</wicri:regionArea><placeName><region type="region">Provence-Alpes-Côte d'Azur</region><region type="old region">Provence-Alpes-Côte d'Azur</region><settlement type="city">Marseille</settlement><settlement type="city">Marseille</settlement></placeName><orgName type="university">Université d'Aix-Marseille</orgName></affiliation></author><author><name sortKey="Javed, Asif" sort="Javed, Asif" uniqKey="Javed A" first="Asif" last="Javed">Asif Javed</name><affiliation wicri:level="1"><nlm:affiliation>Cancer Therapeutics and Stratified Oncology, Genome Institute of Singapore, A*STAR, Singapore.</nlm:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Cancer Therapeutics and Stratified Oncology, Genome Institute of Singapore, A*STAR</wicri:regionArea><wicri:noRegion>A*STAR</wicri:noRegion></affiliation></author><author><name sortKey="Blewitt, Marnie E" sort="Blewitt, Marnie E" uniqKey="Blewitt M" first="Marnie E" last="Blewitt">Marnie E. Blewitt</name><affiliation wicri:level="1"><nlm:affiliation>Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Amiel, Jeanne" sort="Amiel, Jeanne" uniqKey="Amiel J" first="Jeanne" last="Amiel">Jeanne Amiel</name><affiliation wicri:level="3"><nlm:affiliation>Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Wollnik, Bernd" sort="Wollnik, Bernd" uniqKey="Wollnik B" first="Bernd" last="Wollnik">Bernd Wollnik</name><affiliation wicri:level="3"><nlm:affiliation>Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University Medical Center Göttingen, Göttingen</wicri:regionArea><placeName><region type="land" nuts="2">Basse-Saxe</region><settlement type="city">Göttingen</settlement></placeName></affiliation></author><author><name sortKey="Reversade, Bruno" sort="Reversade, Bruno" uniqKey="Reversade B" first="Bruno" last="Reversade">Bruno Reversade</name><affiliation wicri:level="1"><nlm:affiliation>Human Genetics and Embryology Laboratory, Institute of Medical Biology, A*STAR, Singapore.</nlm:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Human Genetics and Embryology Laboratory, Institute of Medical Biology, A*STAR</wicri:regionArea><wicri:noRegion>A*STAR</wicri:noRegion></affiliation></author></analytic><series><title level="j">Nature genetics</title><idno type="eISSN">1546-1718</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Animals</term><term>Cell Line</term><term>Child, Preschool</term><term>Choanal Atresia (genetics)</term><term>Chromosomal Proteins, Non-Histone (genetics)</term><term>Epigenesis, Genetic (genetics)</term><term>Female</term><term>Genetic Predisposition to Disease (genetics)</term><term>Humans</term><term>Male</term><term>Mice</term><term>Mice, Inbred C57BL</term><term>Microphthalmos (genetics)</term><term>Muscular Dystrophy, Facioscapulohumeral (genetics)</term><term>Mutation, Missense (genetics)</term><term>Nose (abnormalities)</term><term>Xenopus laevis (genetics)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Animaux</term><term>Atrésie des choanes (génétique)</term><term>Dystrophie musculaire facio-scapulo-humérale (génétique)</term><term>Enfant d'âge préscolaire</term><term>Femelle</term><term>Humains</term><term>Lignée cellulaire</term><term>Microphtalmie (génétique)</term><term>Mutation faux-sens (génétique)</term><term>Mâle</term><term>Nez (malformations)</term><term>Protéines chromosomiques nonhistones (génétique)</term><term>Prédisposition génétique à une maladie (génétique)</term><term>Souris</term><term>Souris de lignée C57BL</term><term>Xenopus laevis (génétique)</term><term>Épigenèse génétique (génétique)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Chromosomal Proteins, Non-Histone</term></keywords><keywords scheme="MESH" qualifier="abnormalities" xml:lang="en"><term>Nose</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Choanal Atresia</term><term>Epigenesis, Genetic</term><term>Genetic Predisposition to Disease</term><term>Microphthalmos</term><term>Muscular Dystrophy, Facioscapulohumeral</term><term>Mutation, Missense</term><term>Xenopus laevis</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Atrésie des choanes</term><term>Dystrophie musculaire facio-scapulo-humérale</term><term>Microphtalmie</term><term>Mutation faux-sens</term><term>Protéines chromosomiques nonhistones</term><term>Prédisposition génétique à une maladie</term><term>Xenopus laevis</term><term>Épigenèse génétique</term></keywords><keywords scheme="MESH" qualifier="malformations" xml:lang="fr"><term>Nez</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Animals</term><term>Cell Line</term><term>Child, Preschool</term><term>Female</term><term>Humans</term><term>Male</term><term>Mice</term><term>Mice, Inbred C57BL</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Animaux</term><term>Enfant d'âge préscolaire</term><term>Femelle</term><term>Humains</term><term>Lignée cellulaire</term><term>Mâle</term><term>Souris</term><term>Souris de lignée C57BL</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects. We report here that missense mutations in the epigenetic regulator SMCHD1 mapping to the extended ATPase domain of the encoded protein cause BAMS in all 14 cases studied. All mutations were de novo where parental DNA was available. Biochemical tests and in vivo assays in Xenopus laevis embryos suggest that these mutations may behave as gain-of-function alleles. This finding is in contrast to the loss-of-function mutations in SMCHD1 that have been associated with facioscapulohumeral muscular dystrophy (FSHD) type 2. Our results establish SMCHD1 as a key player in nasal development and provide biochemical insight into its enzymatic function that may be exploited for development of therapeutics for FSHD.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>France</li><li>Japon</li><li>Maroc</li><li>Norvège</li><li>Royaume-Uni</li><li>Singapour</li><li>Thaïlande</li><li>Turquie</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Basse-Saxe</li><li>Bavière</li><li>District de Haute-Bavière</li><li>Midlands de l'Ouest</li><li>Provence-Alpes-Côte d'Azur</li><li>Rabat-Salé-Kénitra</li><li>Washington (État)</li><li>Écosse</li><li>Île-de-France</li></region><settlement><li>Birmingham</li><li>Glasgow</li><li>Göttingen</li><li>Marseille</li><li>Munich</li><li>Paris</li><li>Rabat</li></settlement><orgName><li>Université d'Aix-Marseille</li><li>Université de Glasgow</li></orgName></list><tree><country name="France"><region name="Île-de-France"><name sortKey="Gordon, Christopher T" sort="Gordon, Christopher T" uniqKey="Gordon C" first="Christopher T" last="Gordon">Christopher T. Gordon</name></region><name sortKey="Amiel, Jeanne" sort="Amiel, Jeanne" uniqKey="Amiel J" first="Jeanne" last="Amiel">Jeanne Amiel</name><name sortKey="Bole Feysot, Christine" sort="Bole Feysot, Christine" uniqKey="Bole Feysot C" first="Christine" last="Bole-Feysot">Christine Bole-Feysot</name><name sortKey="Dion, Camille" sort="Dion, Camille" uniqKey="Dion C" first="Camille" last="Dion">Camille Dion</name><name sortKey="Filali, Hicham" sort="Filali, Hicham" uniqKey="Filali H" first="Hicham" last="Filali">Hicham Filali</name><name sortKey="Levy, Nicolas" sort="Levy, Nicolas" uniqKey="Levy N" first="Nicolas" last="Lévy">Nicolas Lévy</name><name sortKey="Lyonnet, Stanislas" sort="Lyonnet, Stanislas" uniqKey="Lyonnet S" first="Stanislas" last="Lyonnet">Stanislas Lyonnet</name><name sortKey="Magdinier, Frederique" sort="Magdinier, Frederique" uniqKey="Magdinier F" first="Frédérique" last="Magdinier">Frédérique Magdinier</name><name sortKey="Nitschke, Patrick" sort="Nitschke, Patrick" uniqKey="Nitschke P" first="Patrick" last="Nitschké">Patrick Nitschké</name><name sortKey="Oufadem, Myriam" sort="Oufadem, Myriam" uniqKey="Oufadem M" first="Myriam" last="Oufadem">Myriam Oufadem</name><name sortKey="Sigaudy, Sabine" sort="Sigaudy, Sabine" uniqKey="Sigaudy S" first="Sabine" last="Sigaudy">Sabine Sigaudy</name></country><country name="Singapour"><noRegion><name sortKey="Xue, Shifeng" sort="Xue, Shifeng" uniqKey="Xue S" first="Shifeng" last="Xue">Shifeng Xue</name></noRegion><name sortKey="Bonnard, Carine" sort="Bonnard, Carine" uniqKey="Bonnard C" first="Carine" last="Bonnard">Carine Bonnard</name><name sortKey="Hillmer, Axel M" sort="Hillmer, Axel M" uniqKey="Hillmer A" first="Axel M" last="Hillmer">Axel M. Hillmer</name><name sortKey="Javed, Asif" sort="Javed, Asif" uniqKey="Javed A" first="Asif" last="Javed">Asif Javed</name><name sortKey="Kong, Mung Kei" sort="Kong, Mung Kei" uniqKey="Kong M" first="Mung Kei" last="Kong">Mung Kei Kong</name><name sortKey="Reversade, Bruno" sort="Reversade, Bruno" uniqKey="Reversade B" first="Bruno" last="Reversade">Bruno Reversade</name><name sortKey="Teo, Audrey S M" sort="Teo, Audrey S M" uniqKey="Teo A" first="Audrey S M" last="Teo">Audrey S M. Teo</name></country><country name="Allemagne"><region name="Basse-Saxe"><name sortKey="Yigit, Gokhan" sort="Yigit, Gokhan" uniqKey="Yigit G" first="Gökhan" last="Yigit">Gökhan Yigit</name></region><name sortKey="Altmuller, Janine" sort="Altmuller, Janine" uniqKey="Altmuller J" first="Janine" last="Altmüller">Janine Altmüller</name><name sortKey="Meschede, Dieter" sort="Meschede, Dieter" uniqKey="Meschede D" first="Dieter" last="Meschede">Dieter Meschede</name><name sortKey="Muhlbauer, Wolfgang" sort="Muhlbauer, Wolfgang" uniqKey="Muhlbauer W" first="Wolfgang" last="Mühlbauer">Wolfgang Mühlbauer</name><name sortKey="Nurnberg, Peter" sort="Nurnberg, Peter" uniqKey="Nurnberg P" first="Peter" last="Nürnberg">Peter Nürnberg</name><name sortKey="Rosin, Nadine" sort="Rosin, Nadine" uniqKey="Rosin N" first="Nadine" last="Rosin">Nadine Rosin</name><name sortKey="Thiele, Holger" sort="Thiele, Holger" uniqKey="Thiele H" first="Holger" last="Thiele">Holger Thiele</name><name sortKey="Wollnik, Bernd" sort="Wollnik, Bernd" uniqKey="Wollnik B" first="Bernd" last="Wollnik">Bernd Wollnik</name></country><country name="Australie"><noRegion><name sortKey="Chen, Kelan" sort="Chen, Kelan" uniqKey="Chen K" first="Kelan" last="Chen">Kelan Chen</name></noRegion><name sortKey="Beck, Tamara J" sort="Beck, Tamara J" uniqKey="Beck T" first="Tamara J" last="Beck">Tamara J. Beck</name><name sortKey="Blewitt, Marnie E" sort="Blewitt, Marnie E" uniqKey="Blewitt M" first="Marnie E" last="Blewitt">Marnie E. Blewitt</name><name sortKey="Gurzau, Alexandra D" sort="Gurzau, Alexandra D" uniqKey="Gurzau A" first="Alexandra D" last="Gurzau">Alexandra D. Gurzau</name><name sortKey="Murphy, James M" sort="Murphy, James M" uniqKey="Murphy J" first="James M" last="Murphy">James M. Murphy</name></country><country name="Japon"><noRegion><name sortKey="Yoshiura, Koh Ichiro" sort="Yoshiura, Koh Ichiro" uniqKey="Yoshiura K" first="Koh-Ichiro" last="Yoshiura">Koh-Ichiro Yoshiura</name></noRegion><name sortKey="Okamoto, Nobuhiko" sort="Okamoto, Nobuhiko" uniqKey="Okamoto N" first="Nobuhiko" last="Okamoto">Nobuhiko Okamoto</name></country><country name="Royaume-Uni"><noRegion><name sortKey="Mcgowan, Ruth" sort="Mcgowan, Ruth" uniqKey="Mcgowan R" first="Ruth" last="Mcgowan">Ruth Mcgowan</name></noRegion><name sortKey="Ahmed, S Faisal" sort="Ahmed, S Faisal" uniqKey="Ahmed S" first="S Faisal" last="Ahmed">S Faisal Ahmed</name><name sortKey="Irving, Rachel" sort="Irving, Rachel" uniqKey="Irving R" first="Rachel" last="Irving">Rachel Irving</name><name sortKey="Magee, Alex C" sort="Magee, Alex C" uniqKey="Magee A" first="Alex C" last="Magee">Alex C. Magee</name><name sortKey="Ragge, Nicola" sort="Ragge, Nicola" uniqKey="Ragge N" first="Nicola" last="Ragge">Nicola Ragge</name><name sortKey="Varghese, Vinod" sort="Varghese, Vinod" uniqKey="Varghese V" first="Vinod" last="Varghese">Vinod Varghese</name><name sortKey="Williams, Denise" sort="Williams, Denise" uniqKey="Williams D" first="Denise" last="Williams">Denise Williams</name></country><country name="Maroc"><region name="Rabat-Salé-Kénitra"><name sortKey="Ratbi, Ilham" sort="Ratbi, Ilham" uniqKey="Ratbi I" first="Ilham" last="Ratbi">Ilham Ratbi</name></region><name sortKey="Elalaoui, Siham Chafai" sort="Elalaoui, Siham Chafai" uniqKey="Elalaoui S" first="Siham Chafai" last="Elalaoui">Siham Chafai Elalaoui</name><name sortKey="Fejjal, Nawfal" sort="Fejjal, Nawfal" uniqKey="Fejjal N" first="Nawfal" last="Fejjal">Nawfal Fejjal</name><name sortKey="Fikri, Meriem" sort="Fikri, Meriem" uniqKey="Fikri M" first="Meriem" last="Fikri">Meriem Fikri</name><name sortKey="Sefiani, Abdelaziz" sort="Sefiani, Abdelaziz" uniqKey="Sefiani A" first="Abdelaziz" last="Sefiani">Abdelaziz Sefiani</name></country><country name="Norvège"><noRegion><name sortKey="Reigstad, Hallvard" sort="Reigstad, Hallvard" uniqKey="Reigstad H" first="Hallvard" last="Reigstad">Hallvard Reigstad</name></noRegion></country><country name="Turquie"><noRegion><name sortKey="Tuncbilek, Gokhan" sort="Tuncbilek, Gokhan" uniqKey="Tuncbilek G" first="Gökhan" last="Tunçbilek">Gökhan Tunçbilek</name></noRegion><name sortKey="Kayserili, Hulya" sort="Kayserili, Hulya" uniqKey="Kayserili H" first="Hülya" last="Kayserili">Hülya Kayserili</name></country><country name="États-Unis"><region name="Washington (État)"><name sortKey="Cunningham, Michael L" sort="Cunningham, Michael L" uniqKey="Cunningham M" first="Michael L" last="Cunningham">Michael L. Cunningham</name></region></country><country name="Thaïlande"><noRegion><name sortKey="Chatdokmaiprai, Chalermpong" sort="Chatdokmaiprai, Chalermpong" uniqKey="Chatdokmaiprai C" first="Chalermpong" last="Chatdokmaiprai">Chalermpong Chatdokmaiprai</name></noRegion><name sortKey="Wattanasirichaigoon, Duangrurdee" sort="Wattanasirichaigoon, Duangrurdee" uniqKey="Wattanasirichaigoon D" first="Duangrurdee" last="Wattanasirichaigoon">Duangrurdee Wattanasirichaigoon</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000E73 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 000E73 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Asie
|area= AustralieFrV1
|flux= Main
|étape= Exploration
|type= RBID
|clé= pubmed:28067911
|texte= De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i -Sk "pubmed:28067911" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd \
| NlmPubMed2Wicri -a AustralieFrV1
| This area was generated with Dilib version V0.6.33. |  |