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A LARGE-SCALE MUTATION SEARCH REVEALS GENETIC HETEROGENEITY IN 3M SYNDROME
Huber, Céline et al. | Date Issued: 2009
Author
Huber, Céline
Delezoide, Anee-Lise
Guimiot, Fabien
Baumann, Clarisse
Malan, Valérie
Merrer, Martine Le
Silva, Daniela Bezerra Da
Bonneau, Dominique
Chatelain, Pierre
Chu, Carol
Clark, Robin
Cox, Helen
Edery, Patrick
Edouard, Thomas
Fano, Virginia
Gibson, Kate
Gillessen-Kaesbach, Gabriele
Giovannucci-Uzielli, Maria-Luisa
Graul-Neumann, Luitgard Margarete
Hagen, Johana-Maria van
Hest, Liselot van
Horovitz, Dafne Dain Gandelman
Melki, Judith
Partsch, Carl-Joachim
Plauchu, Henry
Rajab, Anna
Rossi, Massimiliano
Sillence, David
Steichen-Gersdorf, Elisabeth
Stewart, Helen
Unger, Sheila
Zenker, Martin
Munnich, Arnold
Cormier-Daire, Valérie
Affilliation
Université Paris Descartes. Department of Genetics. Paris, France / Hôpital Necker Enfants Malades, Paris, France.
Université Paris Diderot. Department of Developmental Biology. Paris, France.
Université Paris Diderot. Department of Developmental Biology. Paris, France.
Hôpital Robert Debre. Department of Genetics. Paris, France.
Université Paris Descartes. Department of Genetics. Paris, France / Hôpital Necker Enfants Malades, Paris, France.
Université Paris Descartes. Department of Genetics. Paris, France / Hôpital Necker Enfants Malades, Paris, France.
Centre Hospitalier Universitaire Sainte-Justine. Service de génétique. Montreal, Canada.
Centre Hospitalier Universitaire Sainte-Justine. Department of Biochemistry. Medical Genetics. Angers, France
Hopital Debrousse. Service d’endocrinologie. Lyon, France.
Hospitals Trust. Yorkshire Regional Genetic Service. Leeds Teaching. Leeds, UK.
Loma Linda School of Medicine. Division of Clinical Genetics. Department of Pediatrics. Loma Linda, USA.
Birmingham Women’s Hospital. West Midlands Regional Clinical Genetics Service. Clinical Genetics Unit. Birmingham, UK.
Hospices Civils de Lyon. Service de Cytogénétique Constitutionnelle. Lyon, France.
Hopital Purpan. Service d’Endocrinologie Pédiatrique. Toulouse, France.
Hospital JP Garrahan, Combate de los Pozos 1881. Buenos Aires, Argentina.
Royal Children’s Hospital. Genetic Health Queensland. Brisbane, Australia.
Universität zu Lübeck. Institut für Humangenetik. Lübeck, Germany.
University of Florence. Genetics and Molecular Medicine. Department of Paediatrics. Firenze, Italy.
Institute of Human Genetics. Charité. Campus Virchow-Klinikum. Berlin, Germany.
VU University Medical Centre. Department of Clinical Genetics. Amsterdam, The Netherlands.
VU University Medical Centre. Department of Clinical Genetics. Amsterdam, The Netherlands.
Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Centro de Genética Médica. Rio de Janeiro. RJ, Brasil.
Hadassah University Hospital. Department of Human Genetics. Jerusalem, Israel.
Klinik für Kinder und Jugendliche. Städtische Kliniken Esslingen.Esslingen, Germany.
Hôpital de l’Hôtel-Dieu. Service de Génétique. Lyon, France.
Royal Hospital, Goverment of Muscat. Oman, UAE.
Federico II University. Department of Pediatrics. Naples, Italy.
The Children’s Hospital at Westmead Clinical School. Discipline of Genetic Medicine. Westmead, Australia.
Universitätsklinik für Kinder-und Jugendheilkunde. Innsbruck, Austria.
Churchill Hospital. Department of Clinical Genetics. Oxford, UK.
Institute of Human Genetics. Freiburg, Germany.
University of Erlangen-Nuremberg. University Hospital. Institute of Human Genetics. Erlangen, Germany.
Université Paris Descartes. Department of Genetics. Paris, France / Hôpital Necker Enfants Malades, Paris, France.
Abstract
The 3M syndrome is a rare autosomal recessive disorder recently ascribed to mutations in the CUL7 gene and characterized by severe pre- and postnatal growth retardation. Studying a series of 33 novel cases of 3M syndrome, we have identified deleterious CUL7 mutations in 23/33 patients, including 19 novel mutations and one paternal isodisomy of chromosome 6 encompassing a CUL7 mutation. Lack of mutations in 10/33 cases and exclusion of the CUL7 locus on chromosome 6p21.1 in six consanguineous families strongly support the genetic heterogeneity of the 3M syndrome.
Keywords
CUL7
Paternal Isodisomy of Chromosome 6
Genetic Heterogeneity of 3M Syndrome
 
DeCS
Cromossomos Humanos Par 6
Heterogeneidade Genética
 
Publisher
Nature Publishing Group
Citation
HUBER, Céline et al. A large-scale mutation search reveals genetic heterogeneity in 3M syndrome. European journal of human genetics, London, v. 17, p. 395-400, 2009.
DOI
10.1038/ejhg.2008.200
ISSN
1018-4813