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A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report.
Jacob, Arthur; Pasquier, Jennifer; Carapito, Raphael; Auradé, Frédéric; Molitor, Anne; Froguel, Philippe; Fakhro, Khalid; Halabi, Najeeb; Viot, Géraldine; Bahram, Seiamak; Rafii, Arash.
Afiliação
  • Jacob A; Univ. Lille, CNRS, CHU Lille, Institut Pasteur de Lille, UMR 8199 - EGID, F-59000, Lille, France.
  • Pasquier J; Stem Cell and Microenvironment Laboratory, Weill Cornell Medicine-Qatar, Education City, Qatar Foundation, Doha, Qatar.
  • Carapito R; Institut National de la Santé et de la Recherche Médicale (INSERM), Centre National de la Recherche Scientifique (CNRS), UMR_S 938, Centre de Recherche Saint-Antoine, Team Cancer Biology and Therapeutics, Institut Universitaire de Cancérologie, Sorbonne Université, F-75012, Paris, France.
  • Auradé F; Nice Breast institute, 57 bld de la Californie, 06000, Nice, France.
  • Molitor A; Laboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 4 rue Kirschleger, 67085, Strasbourg, Fran
  • Froguel P; INSERM IMRB U955-E10, UPEC - Université Paris Est, Faculté de Médicine, 94000, Créteil, France.
  • Fakhro K; Laboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 4 rue Kirschleger, 67085, Strasbourg, Fran
  • Halabi N; Univ. Lille, CNRS, CHU Lille, Institut Pasteur de Lille, UMR 8199 - EGID, F-59000, Lille, France.
  • Viot G; Department of Genomics of Common Disease, School of Public Health, Imperial College, South Kensington Campus, London, SW7 2AZ, UK.
  • Bahram S; Epigenetics Cardiovascular Laboratory, Department of Genetic Medicine, Weill Cornell Medicine-Qatar, Doha, Qatar.
  • Rafii A; Department of Human Genetics, Sidra Medical and Research Center, Doha, Qatar.
BMC Med Genet ; 21(1): 182, 2020 09 17.
Article em En | MEDLINE | ID: mdl-32943010
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fatores de Alongamento de Peptídeos / Splicing de RNA / Ribonucleoproteína Nuclear Pequena U5 / Disostose Mandibulofacial / Microcefalia / Mutação Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Child / Female / Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fatores de Alongamento de Peptídeos / Splicing de RNA / Ribonucleoproteína Nuclear Pequena U5 / Disostose Mandibulofacial / Microcefalia / Mutação Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Child / Female / Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article