المؤلفون: Démurger, Florence, Ichkou, Amale, Mougou-Zerelli, Soumaya, Le Merrer, Martine, Goudefroye, Géraldine, Delezoide, Anne-Lise, Quélin, Chloé, Manouvrier, Sylvie, Baujat, Geneviève, Fradin, Mélanie, Pasquier, Laurent, Megarbané, André, Faivre, Laurence, Baumann, Clarisse, Nampoothiri, Sheela, Roume, Joëlle, Isidor, Bertrand, Lacombe, Didier, Delrue, Marie-Ange, Mercier, Sandra, Philip, Nicole, Schaefer, Elise, Holder, Muriel, Krause, Amanda, Laffargue, Fanny, Sinico, Martine, Amram, Daniel, André, Gwenaelle, Liquier, Alain, Rossi, Massimiliano, Amiel, Jeanne, Giuliano, Fabienne, Boute, Odile, Dieux-Coeslier, Anne, Jacquemont, Marie-Line, Afenjar, Alexandra, van Maldergem, Lionel, Lackmy-Port-Lis, Marylin, Vincent-Delorme, Catherine, Chauvet, Marie-Liesse, Cormier-Daire, Valérie, Devisme, Louise, Geneviève, David, Munnich, Arnold, Viot, Géraldine, Raoul, Odile, Romana, Serge, Gonzales, Marie, Encha-Razavi, Ferechte, Odent, Sylvie, Vekemans, Michel, Attie-Bitach, Tania

المساهمون: Service de Cytogénétique et de Biologie Cellulaire, Université de Rennes (UR)-Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou, Service de génétique clinique Rennes, Université de Rennes (UR)-Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou -hôpital Sud, Service de Génétique Médicale CHU Necker, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Cytogénétique, Génétique moléculaire et Biologie de la reproduction, Hôpital Farhat Hached, Service de Biologie du Développement, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), PremUp Foundation, Institut de Recherche pour le Développement (IRD)-Université Paris-Sud - Paris 11 (UP11)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Paris Diderot - Paris 7 (UPD7)-CHI Créteil-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Jeanne de Flandres, Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Service de Génétique, Hôpital de Hautepierre Strasbourg, Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Service de génétique clinique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Amrita Institute of Medical Sciences and Research Center, Hôpital Cochin AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHI Poissy - Saint-Germain-en-Laye, Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), Maladies Rares - Génétique et Métabolisme (MRGM), Université Bordeaux Segalen - Bordeaux 2-Hôpital Pellegrin-Service de Génétique Médicale du CHU de Bordeaux, Génétique Médicale et Génomique Fonctionnelle (GMGF), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Hôpital de la Timone CHU - APHM (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre de Référence " Anomalies du Développement et Syndromes Malformatifs Sud - Est PACA ", Assistance Publique - Hôpitaux de Marseille (APHM)-Hôpital de la Timone CHU - APHM (TIMONE), Service de Génétique clinique, Hôpital Jeanne de Flandre Lille -Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Division of human Genetics, University of the Witwatersrand Johannesburg (WITS)-National Health Laboratory Service-School of Pathology, Service de Génétique Médicale CHU Clermont-Ferrand, CHU Estaing Clermont-Ferrand, CHU Clermont-Ferrand-CHU Clermont-Ferrand, Service d'AnatomoPathologie, CHI Créteil, Service de cytogénétique constitutionnelle, Hospices Civils de Lyon (HCL)-CHU de Lyon-Centre Neuroscience et Recherche, Service de génétique médicale, Hôpital l'Archet, Head of the Department of Medical Genetics, CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Trousseau APHP, Regional Hospital, Centre de Maladies Rares, Anomalies du Développement Nord de France-CH Arras - CHRU Lille, Pôle de Pathologie, Centre de Biologie Pathologie, Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Cellules souches mésenchymateuses, environnement articulaire et immunothérapies de la polyarthrite rhumatoide, Université Montpellier 1 (UM1)-IFR3, Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Service de Génétique Cochin, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin AP-HP, INSERM EMI0210 (EMI0210), Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire Histologie Embryologie Cytogénétique CHU Necker, Hôpital Necker - Enfants Malades AP-HP, Service de Cytogénétique et Embryologie

المصدر: ISSN: 1018-4813.

مصطلحات موضوعية: [SDV.GEN]Life Sciences [q-bio]/Genetics

الوصف: International audience

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/24736735; hal-01064583; https://hal.science/hal-01064583Test; https://hal.science/hal-01064583/documentTest; https://hal.science/hal-01064583/file/ejhg201462.pdfTest; PUBMED: 24736735

الإتاحة: https://doi.org/10.1038/ejhg.2014.62Test
https://hal.science/hal-01064583Test
https://hal.science/hal-01064583/documentTest
https://hal.science/hal-01064583/file/ejhg201462.pdfTest

المؤلفون: Démurger, Florence, Ichkou, Amale, Mougou-Zerelli, Soumaya, Le Merrer, Martine, Goudefroye, Géraldine, Delezoide, Anne-Lise, Quélin, Chloé, Manouvrier, Sylvie, Baujat, Geneviève, Fradin, Mélanie, Pasquier, Laurent, Megarbané, André, Faivre, Laurence, Baumann, Clarisse, Nampoothiri, Sheela, Roume, Joëlle, Isidor, Bertrand, Lacombe, Didier, Delrue, Marie-Ange, Mercier, Sandra, Philip, Nicole, Schaefer, Elise, Holder, Muriel, Krause, Amanda, Laffargue, Fanny, Sinico, Martine, Amram, Daniel, André, Gwenaelle, Liquier, Alain, Rossi, Massimiliano, Amiel, Jeanne, Giuliano, Fabienne, Boute, Odile, Dieux-Coeslier, Anne, Jacquemont, Marie-Line, Afenjar, Alexandra, Van Maldergem, Lionel, Lackmy-Port-Lis, Marylin, Vincent- Delorme, Catherine, Chauvet, Marie-Liesse, Cormier-Daire, Valérie, Devisme, Louise, Geneviève, David, Munnich, Arnold, Viot, Géraldine, Raoul, Odile, Romana, Serge, Gonzales, Marie, Encha-Razavi, Ferechte, Odent, Sylvie

المصدر: European Journal of Human Genetics ; volume 23, issue 1, page 92-102 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/ejhg.2014.62Test
http://www.nature.com/articles/ejhg201462.pdfTest
http://www.nature.com/articles/ejhg201462Test

المؤلفون: Legendre, Marine, Gonzales, Marie, Goudefroye, Géraldine, Bilan, Frédéric, Parisot, Pauline, Perez, Marie-José, Bonnière, Maryse, Bessières, Bettina, Martinovic, Jelena, Delezoide, Anne-Lise, Jossic, Frédérique, Fallet-Bianco, Catherine, Bucourt, Martine, Tantau, Julia, Loget, Philippe, Loeuillet, Laurence, Laurent, Nicole, Leroy, Brigitte, Salhi, Houria, Bigi, Nicole, Rouleau, Caroline, Guimiot, Fabien, Quélin, Chloé, Bazin, Anne, Alby, Caroline, Ichkou, Amale, Gesny, Roselyne, Kitzis, Alain, Ville, Yves, Lyonnet, Stanislas, Razavi, Ferechte, Gilbert-Dussardier, Brigitte, Vekemans, Michel, Attié-Bitach, Tania

مصطلحات موضوعية: Developmental defects

الوصف: Background CHARGE syndrome is a rare, usually sporadic disorder of multiple congenital anomalies ascribed to a CHD7 gene mutation in 60% of cases. Although the syndrome is well characterised in children, only one series of 10 fetuses with CHARGE syndrome has been reported to date. Therefore, we performed a detailed clinicopathological survey in our series of fetuses with CHD7 mutations, now extended to 40 cases. CHARGE syndrome is increasingly diagnosed antenatally, but remains challenging in many instances. Method Here we report a retrospective study of 40 cases of CHARGE syndrome with a CHD7 mutation, including 10 previously reported fetuses, in which fetal or neonatal clinical, radiological and histopathological examinations were performed. Results Conversely to postnatal studies, the proportion of males is high in our series (male to female ratio 2.6:1) suggesting a greater severity in males. Features almost constant in fetuses were external ear anomalies, arhinencephaly and semicircular canal agenesis, while intrauterine growth retardation was never observed. Finally, except for one, all other mutations identified in our antenatal series were truncating, suggesting a possible phenotype–genotype correlation. Conclusions Clinical analysis allowed us to refine the clinical description of CHARGE syndrome in fetuses, describe some novel features and set up diagnostic criteria in order to help the diagnosis of CHARGE syndrome after termination of pregnancies following the detection of severe malformations.

وصف الملف: text/html

العلاقة: http://jmg.bmj.com/cgi/content/short/49/11/698Test; http://dx.doi.org/10.1136/jmedgenet-2012-100926Test

الإتاحة: https://doi.org/10.1136/jmedgenet-2012-100926Test
http://jmg.bmj.com/cgi/content/short/49/11/698Test

المؤلفون: Thomas, Sophie, Encha-Razavi, Ferechte, Devisme, Louise, Etchevers, Heather C, Bessieres-Grattagliano, Bettina, Goudefroye, Geraldine, Elkhartoufi, Nadia, Pateau, Emilie, Ichkou, Amale, Bonniere, Maryse, Marcorelles, Pascale, Parent, Philippe, Manouvrier, Sylvie, Holder, Muriel, Laquerriere, Annie, Loeuillet, Laurence, Roume, Joelle, Martinovic, Jéléna, Mougou-Zerelli, Soumaya, Gonzales, Marie, Meyer, Vencent, Wessner, Marc, Bole Feysot, Christine, Nitschke, Patrick, Leticee, Nadia, Munnich, Arnold, Lyonnet, Stanislas, Wookey, Peter, Gyapay, Gabor, Folliguet, Bernard, Vekemans, Michel, Attie-Bitach, Tania

المساهمون: Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Descartes - Paris 5 (UPD5), Pôle de Pathologie, Centre de Biologie Pathologie, Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Genetics, Institut National de la Santé et de la Recherche Médicale (INSERM), Anatomo-foeto-pathologie, ADHMI Institut de Puériculture et de Périnatalogie, Service de Génétique Médicale CHU Necker, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Genoscope - Centre national de séquençage Evry (GENOSCOPE), Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Embryologie, Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Laboratoire Nord Pathologie, Anatomopathologie Pathologique, CHRU Hôpital Morvan, Département de pédiatrie et génétique médicale, Hôpital Jeanne de Flandres, Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Service d'Anatomie et Cytologie Pathologique CHU Rouen, CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Service d'Anatomie et de Cytologie Pathologiques, CHI Poissy-Saint-Germain, Génétique Médicale, Génétique moléculaire et Biologie de la reproduction, Hôpital Farhat Hached, Université Pierre et Marie Curie - Paris 6 (UPMC), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Service de Bioinformatique, Service de Gynécologie Obstétrique CHU Necker, Department of Medicine, University of Melbourne, Laboratoire de Biologie de la Reproduction et du Développement CHRU Nancy, Service de Foetopathologie et placentologie CHRU Nancy, Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)-Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)

المصدر: ISSN: 1059-7794.

مصطلحات موضوعية: Life Sciences

الوصف: International audience ; Rare lethal disease gene identification remains a challenging issue, but it is amenable to new techniques in high-throughput sequencing (HTS). Cerebral proliferative glomeruloid vasculopathy (PGV), or Fowler syndrome, is a severe autosomal recessive disorder of brain angiogenesis, resulting in abnormally thickened and aberrant perforating vessels leading to hydranencephaly. In 3 multiplex consanguineous families, genome-wide SNP analysis identified a locus of 14 Mb on chromosome 14. In addition, 280 consecutive SNPs were identical in two Turkish families unknown to be related, suggesting a founder mutation reducing the interval to 4,1Mb. To identify the causative gene, we then specifically enriched for this region with sequence capture and performed HTS in a proband of 7 families. Due to technical constraints related to the disease, the average coverage was only 7X. Nonetheless, iterative bioinformatic analyses of the sequence data identified mutations and a large deletion in the FLVCR2 gene, encoding a twelve transmembrane domain-containing putative transporter. A striking absence of alpha-smooth muscle actin immunostaining in abnormal vessels in fetal PGV brains, suggests a deficit in pericytes, cells essential for capillary stabilisation and remodelling during brain angiogenesis. This is the first lethal disease-causing gene to be identified by comprehensive HTS of an entire linkage interval.

العلاقة: hal-00574003; https://hal.science/hal-00574003Test; https://hal.science/hal-00574003/documentTest; https://hal.science/hal-00574003/file/PEER_stage2_10.1002%252Fhumu.21329.pdfTest

الإتاحة: https://doi.org/10.1002/humu.21329Test
https://hal.science/hal-00574003Test
https://hal.science/hal-00574003/documentTest
https://hal.science/hal-00574003/file/PEER_stage2_10.1002%252Fhumu.21329.pdfTest

المؤلفون: Parisot, Pauline, Bajolle, Fanny, Attié-Bittach, Tania, Thomas, Sophie, Goudefroye, Géraldine, Abadie, Véronique, Lyonnet, Stanislas, Bonnet, Damien

المصدر: Archives of Cardiovascular Diseases Supplements ; volume 2, issue 1, page 104-105 ; ISSN 1878-6480

مصطلحات موضوعية: Cardiology and Cardiovascular Medicine

الإتاحة: https://doi.org/10.1016/s1878-6480Test(10)70323-2
https://api.elsevier.com/content/article/PII:S1878648010703232?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1878648010703232?httpAccept=text/plainTest

المؤلفون: Sanlaville, Damien, Etchevers, Heather C, Gonzales, Marie, Martinovic, Jelena, Clément-Ziza, Mathieu, Delezoide, Anne-Lise, Aubry, Marie-Cécile, Pelet, Anna, Chemouny, Sophie, Cruau, Corinne, Audollent, Sophie, Esculpavit, Chantal, Goudefroye, Geraldine, Ozilou, Catherine, Fredouille, Catherine, Joyé, Nicole, Morichon-Delvallez, Nicole, Dumez, Yves, Weissenbach, Jean, Munnich, Arnold, Amiel, Jeanne, Encha-Razavi, Férechté, Lyonnet, Stanislas, Vekemans, Michel, Attié-Bitach, Tania

مصطلحات موضوعية: Original articles

الوصف: Introduction: The acronym CHARGE, coined by Pagon et al 1 refers to a non-random cluster of malformations first described by Hall et al 2 including Coloboma, Heart malformation, choanal Atresia, Retardation of growth and / or development, Genital anomalies, and Ear anomalies. This set of multiple congenital anomalies is frequent, despite rare patients with normal intelligence, and prognosis remains poor. Recently, CHD7 gene mutations have been identified in CHARGE patients; however the function of CHD7 during development remains unknown. Methods: We therefore studied a series of 10 antenatal cases in whom the diagnosis was suspected, considering that a careful pathological description would shed light on the CHD7 function during development. We also performed in situ hybridization analysis of the CHD7 gene during early human development. Results: The diagnosis was confirmed in all 10 fetuses by the identification of a CHD7 heterozygous truncating mutation. Such results allowed us to further refine the phenotypic spectrum of developmental anomalies resulting from CHD7 dysfunction. Discussion: Interestingly, arhinencephaly and semi-circular canal agenesis were two constant features which do not belong to formal diagnostic criteria so far. Expression analysis of the CHD7 gene during early human development emphasized the role of CHD7 in the development of central nervous system, internal ear, neural crest of pharyngeal arches, and more generally showed a good correlation between specific CHD7 expression pattern and the developmental anomalies observed in CHARGE syndrome.

وصف الملف: text/html

العلاقة: http://jmg.bmj.com/cgi/content/short/jmg.2005.036160v1Test; http://dx.doi.org/10.1136/jmg.2005.036160Test

الإتاحة: https://doi.org/10.1136/jmg.2005.036160Test
http://jmg.bmj.com/cgi/content/short/jmg.2005.036160v1Test

المؤلفون: Karmous-Benailly, Houda, Martinovic, Jelena, Gubler, Marie-Claire, Sirot, Yoann, Clech, Laure, Ozilou, Catherine, Augé, Joëlle, Brahimi, Nora, Etchevers, Heather, Detrait, Eric, Esculpavit, Chantal, Audollent, Sophie, Goudefroye, Géraldine, Gonzales, Marie, Tantau, Julia, Loget, Philippe, Joubert, Madeleine, Gaillard, Dominique, Jeanne-Pasquier, Corinne, Delezoide, Anne-Lise, Peter, Marie-Odile, Plessis, Ghislaine, Simon-Bouy, Brigitte, Dollfus, Hélène, Le Merrer, Martine, Munnich, Arnold, Encha-Razavi, Férechté, Vekemans, Michel, Attié-Bitach, Tania

المصدر: The American Journal of Human Genetics ; volume 76, issue 3, page 493-504 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1086/428679Test
https://api.elsevier.com/content/article/PII:S0002929707633448?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929707633448?httpAccept=text/plainTest

المؤلفون: Golzio, Christelle, Guirchoun, Jessica, Ozilou, Catherine, Thomas, Sophie, Goudefroye, Géraldine, Morichon-Delvallez, Nicole, Vekemans, Michel, Attié-Bitach, Tania, Etchevers, Heather C.

المصدر: Prenatal Diagnosis ; volume 26, issue 13, page 1201-1205 ; ISSN 0197-3851 1097-0223

الإتاحة: https://doi.org/10.1002/pd.1588Test

المؤلفون: Lehalle, Daphné, Gordon, Christopher T., Oufadem, Myriam, Goudefroye, Géraldine, Boutaud, Lucile, Alessandri, Jean‐Luc, Baena, Neus, Baujat, Geneviève, Baumann, Clarisse, Boute‐Benejean, Odile, Caumes, Roseline, Decaestecker, Charles, Gaillard, Dominique, Goldenberg, Alice, Gonzales, Marie, Holder‐Espinasse, Muriel, Jacquemont, Marie‐Line, Lacombe, Didier, Manouvrier‐Hanu, Sylvie, Marlin, Sandrine

المصدر: Human Mutation; Apr2014, Vol. 35 Issue 4, p478-485, 8p

مستخلص: ABSTRACT Mandibulofacial dysostosis, Guion- Almeida type ( MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis ( MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, intellectual disability, oesophageal atresia ( OA), congenital heart defects ( CHDs), and radial ray defects. MFDGA emerges as a clinically recognizable entity, long underdiagnosed due to highly variable presentations. The main differential diagnoses are CHARGE and Feingold syndromes, oculoauriculovertebral spectrum, and other MFDs. EFTUD2, located on 17q21.31, encodes a component of the major spliceosome and is disease causing in MFDGA, due to heterozygous loss-of-function ( Lo F) mutations. Here, we describe a series of 36 cases of MFDGA, including 24 previously unreported cases, and we review the literature in order to delineate the clinical spectrum ascribed to EFTUD2 Lo F. MFD, external ear anomalies, and intellectual deficiency occur at a higher frequency than microcephaly. We characterize the evolution of the facial gestalt at different ages and describe novel renal and cerebral malformations. The most frequent extracranial malformation in this series is OA, followed by CHDs and skeletal abnormalities. MFDGA is probably more frequent than other syndromic MFDs such as Nager or Miller syndromes. Although the wide spectrum of malformations complicates diagnosis, characteristic facial features provide a useful handle. [ABSTRACT FROM AUTHOR]

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