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Oro-dental phenotype in patients with RUNX2 duplication.
Merametdjian, Laure; Prud'Homme, Tony; Le Caignec, Cédric; Isidor, Bertrand; Lopez-Cazaux, Serena.
Afiliação
  • Merametdjian L; Département d'Odontologie Conservatrice et Endodontie, UFR Odontologie, Université de Nantes, France; Service d'Odontologie Conservatrice et Pédiatrique, Centre de compétences Malformations orales et dentaires rares, CHU de Nantes, France; INSERM, U1229, RMeS, Nantes, France.
  • Prud'Homme T; Service d'Odontologie Conservatrice et Pédiatrique, Centre de compétences Malformations orales et dentaires rares, CHU de Nantes, France; Département D'Odontologie Pédiatrique, UFR Odontologie, Université de Nantes, France; Unité d'Investigation Clinique Odontologie (UIC), France.
  • Le Caignec C; CHU Nantes, Service de Génétique Médicale, Centre de compétences Malformations orales et dentaires rares, CHU de Nantes, France; INSERM, UMR 1238, Bone Sarcoma and Remodeling of Calcified Tissue, Nantes, France.
  • Isidor B; CHU Nantes, Service de Génétique Médicale, Centre de compétences Malformations orales et dentaires rares, CHU de Nantes, France; INSERM, UMR 1238, Bone Sarcoma and Remodeling of Calcified Tissue, Nantes, France.
  • Lopez-Cazaux S; Service d'Odontologie Conservatrice et Pédiatrique, Centre de compétences Malformations orales et dentaires rares, CHU de Nantes, France; Département D'Odontologie Pédiatrique, UFR Odontologie, Université de Nantes, France; Unité d'Investigation Clinique Odontologie (UIC), France. Electronic address
Eur J Med Genet ; 62(2): 85-89, 2019 Feb.
Article em En | MEDLINE | ID: mdl-29852250
Runt-related transcription factor 2 (RUNX2) is well-known for its role in bone development and tooth morphogenesis. Most RUNX2 mutations described in the literature result in loss-of-function mutations of RUNX2 responsible for cleidocranial dysplasia, an autosomal dominant disorder. We describe here the oro-dental phenotype of four patients of a unique family with a 285 kb duplication including the entire sequence of RUNX2, likely responsible for three functional copies of the gene, leading to an increased RUNX2 dosage. Several dental anomalies of number (hypodontia or oligodontia), morphology (microdontia, radiculomegaly, taurodontism or dens invaginatus) and tooth position (rotation) were found in these patients.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Anormalidades Dentárias / Duplicação Gênica / Subunidade alfa 1 de Fator de Ligação ao Core Limite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: França

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Anormalidades Dentárias / Duplicação Gênica / Subunidade alfa 1 de Fator de Ligação ao Core Limite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: França