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De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.

Identifieur interne : 001087 ( PubMed/Curation ); précédent : 001086; suivant : 001088

De 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.

RBID : pubmed:28067911

Descripteurs français

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

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<author><name sortKey="Gordon, Christopher T" sort="Gordon, Christopher T" uniqKey="Gordon C" first="Christopher T" last="Gordon">Christopher T. Gordon</name>
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<author><name sortKey="Yoshiura, Koh Ichiro" sort="Yoshiura, Koh Ichiro" uniqKey="Yoshiura K" first="Koh-Ichiro" last="Yoshiura">Koh-Ichiro Yoshiura</name>
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<author><name sortKey="Oufadem, Myriam" sort="Oufadem, Myriam" uniqKey="Oufadem M" first="Myriam" last="Oufadem">Myriam Oufadem</name>
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<author><name sortKey="Beck, Tamara J" sort="Beck, Tamara J" uniqKey="Beck T" first="Tamara J" last="Beck">Tamara J. Beck</name>
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<author><name sortKey="Mcgowan, Ruth" sort="Mcgowan, Ruth" uniqKey="Mcgowan R" first="Ruth" last="Mcgowan">Ruth Mcgowan</name>
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<author><name sortKey="Magee, Alex C" sort="Magee, Alex C" uniqKey="Magee A" first="Alex C" last="Magee">Alex C. Magee</name>
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<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>
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<author><name sortKey="Dion, Camille" sort="Dion, Camille" uniqKey="Dion C" first="Camille" last="Dion">Camille Dion</name>
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<country xml:lang="fr">France</country>
<wicri:regionArea>Aix Marseille Université, INSERM, Génétique Médicale et Génomique Fonctionnelle (GMGF), UMRS 910, Marseille</wicri:regionArea>
</affiliation>
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<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>
</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>
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<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>
</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>
</affiliation>
</author>
<author><name sortKey="Muhlbauer, Wolfgang" sort="Muhlbauer, Wolfgang" uniqKey="Muhlbauer W" first="Wolfgang" last="Mühlbauer">Wolfgang Mühlbauer</name>
<affiliation wicri:level="1"><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>
</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>
</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>
</affiliation>
</author>
<author><name sortKey="Irving, Rachel" sort="Irving, Rachel" uniqKey="Irving R" first="Rachel" last="Irving">Rachel Irving</name>
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<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Institute of Medical Genetics, University Hospital of Wales, Cardiff</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Sigaudy, Sabine" sort="Sigaudy, Sabine" uniqKey="Sigaudy S" first="Sabine" last="Sigaudy">Sabine Sigaudy</name>
<affiliation wicri:level="1"><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>
</affiliation>
</author>
<author><name sortKey="Williams, Denise" sort="Williams, Denise" uniqKey="Williams D" first="Denise" last="Williams">Denise Williams</name>
<affiliation wicri:level="1"><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>
</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="1"><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>
</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>
</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>
</affiliation>
</author>
<author><name sortKey="Ratbi, Ilham" sort="Ratbi, Ilham" uniqKey="Ratbi I" first="Ilham" last="Ratbi">Ilham Ratbi</name>
<affiliation wicri:level="1"><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>
</affiliation>
</author>
<author><name sortKey="Fejjal, Nawfal" sort="Fejjal, Nawfal" uniqKey="Fejjal N" first="Nawfal" last="Fejjal">Nawfal Fejjal</name>
<affiliation wicri:level="1"><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>
</affiliation>
</author>
<author><name sortKey="Fikri, Meriem" sort="Fikri, Meriem" uniqKey="Fikri M" first="Meriem" last="Fikri">Meriem Fikri</name>
<affiliation wicri:level="1"><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>
</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="1"><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>
</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>
</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="1"><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>
</affiliation>
</author>
<author><name sortKey="Nitschke, Patrick" sort="Nitschke, Patrick" uniqKey="Nitschke P" first="Patrick" last="Nitschké">Patrick Nitschké</name>
<affiliation wicri:level="1"><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>
</affiliation>
</author>
<author><name sortKey="Ragge, Nicola" sort="Ragge, Nicola" uniqKey="Ragge N" first="Nicola" last="Ragge">Nicola Ragge</name>
<affiliation wicri:level="1"><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>
</affiliation>
</author>
<author><name sortKey="Levy, Nicolas" sort="Levy, Nicolas" uniqKey="Levy N" first="Nicolas" last="Lévy">Nicolas Lévy</name>
<affiliation wicri:level="1"><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>
</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>
</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>
</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="1"><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>
</affiliation>
</author>
<author><name sortKey="Sefiani, Abdelaziz" sort="Sefiani, Abdelaziz" uniqKey="Sefiani A" first="Abdelaziz" last="Sefiani">Abdelaziz Sefiani</name>
<affiliation wicri:level="1"><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>
</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>
</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>
</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>
</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>
</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>
</affiliation>
</author>
<author><name sortKey="Lyonnet, Stanislas" sort="Lyonnet, Stanislas" uniqKey="Lyonnet S" first="Stanislas" last="Lyonnet">Stanislas Lyonnet</name>
<affiliation wicri:level="1"><nlm:affiliation>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>
</affiliation>
</author>
<author><name sortKey="Magdinier, Frederique" sort="Magdinier, Frederique" uniqKey="Magdinier F" first="Frédérique" last="Magdinier">Frédérique Magdinier</name>
<affiliation wicri:level="1"><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>
</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>
</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>
</affiliation>
</author>
<author><name sortKey="Amiel, Jeanne" sort="Amiel, Jeanne" uniqKey="Amiel J" first="Jeanne" last="Amiel">Jeanne Amiel</name>
<affiliation wicri:level="1"><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>
</affiliation>
</author>
<author><name sortKey="Wollnik, Bernd" sort="Wollnik, Bernd" uniqKey="Wollnik B" first="Bernd" last="Wollnik">Bernd Wollnik</name>
<affiliation wicri:level="1"><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>
</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>
</affiliation>
</author>
</titleStmt>
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<date when="2017">2017</date>
<idno type="RBID">pubmed:28067911</idno>
<idno type="pmid">28067911</idno>
<idno type="doi">10.1038/ng.3765</idno>
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<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="1"><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>
</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>
</affiliation>
</author>
<author><name sortKey="Yigit, Gokhan" sort="Yigit, Gokhan" uniqKey="Yigit G" first="Gökhan" last="Yigit">Gökhan Yigit</name>
<affiliation wicri:level="1"><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>
</affiliation>
</author>
<author><name sortKey="Filali, Hicham" sort="Filali, Hicham" uniqKey="Filali H" first="Hicham" last="Filali">Hicham Filali</name>
<affiliation wicri:level="1"><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>
</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>
</affiliation>
</author>
<author><name sortKey="Rosin, Nadine" sort="Rosin, Nadine" uniqKey="Rosin N" first="Nadine" last="Rosin">Nadine Rosin</name>
<affiliation wicri:level="1"><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>
</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>
</affiliation>
</author>
<author><name sortKey="Oufadem, Myriam" sort="Oufadem, Myriam" uniqKey="Oufadem M" first="Myriam" last="Oufadem">Myriam Oufadem</name>
<affiliation wicri:level="1"><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>
</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>
</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>
</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>
</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>
</affiliation>
</author>
<author><name sortKey="Dion, Camille" sort="Dion, Camille" uniqKey="Dion C" first="Camille" last="Dion">Camille Dion</name>
<affiliation wicri:level="1"><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>
</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>
</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>
</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>
</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>
</affiliation>
</author>
<author><name sortKey="Muhlbauer, Wolfgang" sort="Muhlbauer, Wolfgang" uniqKey="Muhlbauer W" first="Wolfgang" last="Mühlbauer">Wolfgang Mühlbauer</name>
<affiliation wicri:level="1"><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>
</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>
</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>
</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>
</affiliation>
</author>
<author><name sortKey="Sigaudy, Sabine" sort="Sigaudy, Sabine" uniqKey="Sigaudy S" first="Sabine" last="Sigaudy">Sabine Sigaudy</name>
<affiliation wicri:level="1"><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>
</affiliation>
</author>
<author><name sortKey="Williams, Denise" sort="Williams, Denise" uniqKey="Williams D" first="Denise" last="Williams">Denise Williams</name>
<affiliation wicri:level="1"><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>
</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="1"><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>
</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>
</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>
</affiliation>
</author>
<author><name sortKey="Ratbi, Ilham" sort="Ratbi, Ilham" uniqKey="Ratbi I" first="Ilham" last="Ratbi">Ilham Ratbi</name>
<affiliation wicri:level="1"><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>
</affiliation>
</author>
<author><name sortKey="Fejjal, Nawfal" sort="Fejjal, Nawfal" uniqKey="Fejjal N" first="Nawfal" last="Fejjal">Nawfal Fejjal</name>
<affiliation wicri:level="1"><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>
</affiliation>
</author>
<author><name sortKey="Fikri, Meriem" sort="Fikri, Meriem" uniqKey="Fikri M" first="Meriem" last="Fikri">Meriem Fikri</name>
<affiliation wicri:level="1"><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>
</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="1"><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>
</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>
</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="1"><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>
</affiliation>
</author>
<author><name sortKey="Nitschke, Patrick" sort="Nitschke, Patrick" uniqKey="Nitschke P" first="Patrick" last="Nitschké">Patrick Nitschké</name>
<affiliation wicri:level="1"><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>
</affiliation>
</author>
<author><name sortKey="Ragge, Nicola" sort="Ragge, Nicola" uniqKey="Ragge N" first="Nicola" last="Ragge">Nicola Ragge</name>
<affiliation wicri:level="1"><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>
</affiliation>
</author>
<author><name sortKey="Levy, Nicolas" sort="Levy, Nicolas" uniqKey="Levy N" first="Nicolas" last="Lévy">Nicolas Lévy</name>
<affiliation wicri:level="1"><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>
</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>
</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>
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<country xml:lang="fr">États-Unis</country>
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<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>
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<author><name sortKey="Murphy, James M" sort="Murphy, James M" uniqKey="Murphy J" first="James M" last="Murphy">James M. Murphy</name>
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<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>
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<country xml:lang="fr">Singapour</country>
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<author><name sortKey="Wattanasirichaigoon, Duangrurdee" sort="Wattanasirichaigoon, Duangrurdee" uniqKey="Wattanasirichaigoon D" first="Duangrurdee" last="Wattanasirichaigoon">Duangrurdee Wattanasirichaigoon</name>
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<country xml:lang="fr">Thaïlande</country>
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<author><name sortKey="Lyonnet, Stanislas" sort="Lyonnet, Stanislas" uniqKey="Lyonnet S" first="Stanislas" last="Lyonnet">Stanislas Lyonnet</name>
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<country xml:lang="fr">France</country>
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<wicri:regionArea>Aix Marseille Université, INSERM, Génétique Médicale et Génomique Fonctionnelle (GMGF), UMRS 910, Marseille</wicri:regionArea>
</affiliation>
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<author><name sortKey="Javed, Asif" sort="Javed, Asif" uniqKey="Javed A" first="Asif" last="Javed">Asif Javed</name>
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</affiliation>
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<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>
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</affiliation>
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<author><name sortKey="Amiel, Jeanne" sort="Amiel, Jeanne" uniqKey="Amiel J" first="Jeanne" last="Amiel">Jeanne Amiel</name>
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</affiliation>
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<author><name sortKey="Wollnik, Bernd" sort="Wollnik, Bernd" uniqKey="Wollnik B" first="Bernd" last="Wollnik">Bernd Wollnik</name>
<affiliation wicri:level="1"><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>
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<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>
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<series><title level="j">Nature genetics</title>
<idno type="eISSN">1546-1718</idno>
<imprint><date when="2017" type="published">2017</date>
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<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>
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<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>
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<term>Nez (malformations)</term>
<term>Protéines chromosomiques nonhistones (génétique)</term>
<term>Prédisposition génétique à une maladie (génétique)</term>
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<term>Souris de lignée C57BL</term>
<term>Xenopus laevis (génétique)</term>
<term>Épigenèse génétique (génétique)</term>
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</keywords>
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</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>
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<term>Dystrophie musculaire facio-scapulo-humérale</term>
<term>Microphtalmie</term>
<term>Mutation faux-sens</term>
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<term>Prédisposition génétique à une maladie</term>
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<term>Épigenèse génétique</term>
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<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>
<pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">28067911</PMID>
<DateCreated><Year>2017</Year>
<Month>01</Month>
<Day>09</Day>
</DateCreated>
<DateCompleted><Year>2017</Year>
<Month>09</Month>
<Day>05</Day>
</DateCompleted>
<DateRevised><Year>2017</Year>
<Month>09</Month>
<Day>06</Day>
</DateRevised>
<Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1546-1718</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>49</Volume>
<Issue>2</Issue>
<PubDate><Year>2017</Year>
<Month>Feb</Month>
</PubDate>
</JournalIssue>
<Title>Nature genetics</Title>
<ISOAbbreviation>Nat. Genet.</ISOAbbreviation>
</Journal>
<ArticleTitle>De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.</ArticleTitle>
<Pagination><MedlinePgn>249-255</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1038/ng.3765</ELocationID>
<Abstract><AbstractText>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.</AbstractText>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Gordon</LastName>
<ForeName>Christopher T</ForeName>
<Initials>CT</Initials>
<Identifier Source="ORCID">http://orcid.org/0000-0002-9300-8399</Identifier>
<AffiliationInfo><Affiliation>Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris, France.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Paris Descartes, Sorbonne Paris Cité Université, Institut Imagine, Paris, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Xue</LastName>
<ForeName>Shifeng</ForeName>
<Initials>S</Initials>
<AffiliationInfo><Affiliation>Human Genetics and Embryology Laboratory, Institute of Medical Biology, A*STAR, Singapore.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Institute of Molecular and Cell Biology, A*STAR, Singapore.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Yigit</LastName>
<ForeName>Gökhan</ForeName>
<Initials>G</Initials>
<AffiliationInfo><Affiliation>Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Filali</LastName>
<ForeName>Hicham</ForeName>
<Initials>H</Initials>
<AffiliationInfo><Affiliation>Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris, France.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Paris Descartes, Sorbonne Paris Cité Université, Institut Imagine, Paris, France.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Mohammed V University, Rabat, Morocco.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Chen</LastName>
<ForeName>Kelan</ForeName>
<Initials>K</Initials>
<AffiliationInfo><Affiliation>Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Department of Medical Biology, University of Melbourne, Melbourne, Victoria, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Rosin</LastName>
<ForeName>Nadine</ForeName>
<Initials>N</Initials>
<AffiliationInfo><Affiliation>Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Yoshiura</LastName>
<ForeName>Koh-Ichiro</ForeName>
<Initials>KI</Initials>
<AffiliationInfo><Affiliation>Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Oufadem</LastName>
<ForeName>Myriam</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris, France.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Paris Descartes, Sorbonne Paris Cité Université, Institut Imagine, Paris, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Beck</LastName>
<ForeName>Tamara J</ForeName>
<Initials>TJ</Initials>
<AffiliationInfo><Affiliation>Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>McGowan</LastName>
<ForeName>Ruth</ForeName>
<Initials>R</Initials>
<AffiliationInfo><Affiliation>West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Magee</LastName>
<ForeName>Alex C</ForeName>
<Initials>AC</Initials>
<AffiliationInfo><Affiliation>Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Altmüller</LastName>
<ForeName>Janine</ForeName>
<Initials>J</Initials>
<AffiliationInfo><Affiliation>Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Institute of Human Genetics, University of Cologne, Cologne, Germany.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Dion</LastName>
<ForeName>Camille</ForeName>
<Initials>C</Initials>
<AffiliationInfo><Affiliation>Aix Marseille Université, INSERM, Génétique Médicale et Génomique Fonctionnelle (GMGF), UMRS 910, Marseille, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Thiele</LastName>
<ForeName>Holger</ForeName>
<Initials>H</Initials>
<AffiliationInfo><Affiliation>Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Gurzau</LastName>
<ForeName>Alexandra D</ForeName>
<Initials>AD</Initials>
<AffiliationInfo><Affiliation>Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Department of Medical Biology, University of Melbourne, Melbourne, Victoria, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Nürnberg</LastName>
<ForeName>Peter</ForeName>
<Initials>P</Initials>
<AffiliationInfo><Affiliation>Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Meschede</LastName>
<ForeName>Dieter</ForeName>
<Initials>D</Initials>
<AffiliationInfo><Affiliation>Praxis für Humangenetik, Cologne, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Mühlbauer</LastName>
<ForeName>Wolfgang</ForeName>
<Initials>W</Initials>
<AffiliationInfo><Affiliation>Plastische und Ästhetische Chirurgie, ATOS Klinik München, Munich, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Okamoto</LastName>
<ForeName>Nobuhiko</ForeName>
<Initials>N</Initials>
<AffiliationInfo><Affiliation>Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Osaka, Japan.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Varghese</LastName>
<ForeName>Vinod</ForeName>
<Initials>V</Initials>
<AffiliationInfo><Affiliation>Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Irving</LastName>
<ForeName>Rachel</ForeName>
<Initials>R</Initials>
<AffiliationInfo><Affiliation>Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Sigaudy</LastName>
<ForeName>Sabine</ForeName>
<Initials>S</Initials>
<AffiliationInfo><Affiliation>Département de Génétique Médicale, Hôpital Timone Enfant, Assistance Publique-Hôpitaux de Marseille, Marseille, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Williams</LastName>
<ForeName>Denise</ForeName>
<Initials>D</Initials>
<AffiliationInfo><Affiliation>West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Ahmed</LastName>
<ForeName>S Faisal</ForeName>
<Initials>SF</Initials>
<Identifier Source="ORCID">http://orcid.org/0000-0003-0689-5549</Identifier>
<AffiliationInfo><Affiliation>Developmental Endocrinology Research Group, University of Glasgow, RHC, Glasgow, UK.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Bonnard</LastName>
<ForeName>Carine</ForeName>
<Initials>C</Initials>
<AffiliationInfo><Affiliation>Human Genetics and Embryology Laboratory, Institute of Medical Biology, A*STAR, Singapore.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Kong</LastName>
<ForeName>Mung Kei</ForeName>
<Initials>MK</Initials>
<AffiliationInfo><Affiliation>Human Genetics and Embryology Laboratory, Institute of Medical Biology, A*STAR, Singapore.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Ratbi</LastName>
<ForeName>Ilham</ForeName>
<Initials>I</Initials>
<AffiliationInfo><Affiliation>Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Mohammed V University, Rabat, Morocco.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Fejjal</LastName>
<ForeName>Nawfal</ForeName>
<Initials>N</Initials>
<AffiliationInfo><Affiliation>Service de Chirurgie Plastique Pédiatrique, Hôpital d'Enfants, CHU Ibn Sina, Mohammed V University, Rabat, Morocco.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Fikri</LastName>
<ForeName>Meriem</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>Service de Neuroradiologie, Hôpital des Spécialités, CHU Ibn Sina, Mohammed V University, Rabat, Morocco.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Elalaoui</LastName>
<ForeName>Siham Chafai</ForeName>
<Initials>SC</Initials>
<AffiliationInfo><Affiliation>Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Mohammed V University, Rabat, Morocco.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Département de Génétique Médical, Institut National d'Hygiène, Rabat, Morocco.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Reigstad</LastName>
<ForeName>Hallvard</ForeName>
<Initials>H</Initials>
<AffiliationInfo><Affiliation>Neonatal Intensive Care Unit, Children's Department, Haukeland University Hospital, Bergen, Norway.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Bole-Feysot</LastName>
<ForeName>Christine</ForeName>
<Initials>C</Initials>
<AffiliationInfo><Affiliation>Paris Descartes, Sorbonne Paris Cité Université, Institut Imagine, Paris, France.</Affiliation>
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<AffiliationInfo><Affiliation>Department of Medical Biology, University of Melbourne, Melbourne, Victoria, Australia.</Affiliation>
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</AffiliationInfo>
<AffiliationInfo><Affiliation>Paris Descartes, Sorbonne Paris Cité Université, Institut Imagine, Paris, France.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.</Affiliation>
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<Initials>B</Initials>
<AffiliationInfo><Affiliation>Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.</Affiliation>
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<AffiliationInfo><Affiliation>Institute of Human Genetics, University of Cologne, Cologne, Germany.</Affiliation>
</AffiliationInfo>
</Author>
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<ForeName>Bruno</ForeName>
<Initials>B</Initials>
<Identifier Source="ORCID">http://orcid.org/0000-0002-4070-7997</Identifier>
<AffiliationInfo><Affiliation>Human Genetics and Embryology Laboratory, Institute of Medical Biology, A*STAR, Singapore.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Institute of Molecular and Cell Biology, A*STAR, Singapore.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Department of Paediatrics, School of Medicine, National University of Singapore, Singapore.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Amsterdam Reproduction and Development, Academic Medical Centre and VU University Medical Center, Amsterdam, the Netherlands.</Affiliation>
</AffiliationInfo>
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<Month>01</Month>
<Day>09</Day>
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<MedlineTA>Nat Genet</MedlineTA>
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<ISSNLinking>1061-4036</ISSNLinking>
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<NameOfSubstance UI="D002868">Chromosomal Proteins, Non-Histone</NameOfSubstance>
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<MeshHeading><DescriptorName UI="D008850" MajorTopicYN="N">Microphthalmos</DescriptorName>
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<MeshHeading><DescriptorName UI="D020391" MajorTopicYN="N">Muscular Dystrophy, Facioscapulohumeral</DescriptorName>
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<MeshHeading><DescriptorName UI="D014982" MajorTopicYN="N">Xenopus laevis</DescriptorName>
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   |texte=   De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.
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De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.

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