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Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly.
Sabbagh, Quentin; Tharreau, Mylène; Cenni, Camille; Sanchez, Elodie; Ruiz-Pallares, Nathalie; Alkar, Fanny; Amouroux, Cyril; David, Stéphanie; Prodhomme, Olivier; Leboucq, Nicolas; Meunier, Isabelle; Bessis, Didier; Theron, Alexandre; Barat-Houari, Mouna; Willems, Marjolaine.
Affiliation
  • Sabbagh Q; Montpellier University, Service de Génétique Clinique, Centre de Compétence Maladies Osseuses Constitutionnelles, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.
  • Tharreau M; Montpellier University, Department of Molecular Genetics and Cytogenomics, Rare and Autoinflammatory Diseases Unit, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.
  • Cenni C; Montpellier University, Department of Molecular Genetics and Cytogenomics, Rare and Autoinflammatory Diseases Unit, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.
  • Sanchez E; Montpellier University, Department of Molecular Genetics and Cytogenomics, Rare and Autoinflammatory Diseases Unit, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.
  • Ruiz-Pallares N; Montpellier University, Department of Molecular Genetics and Cytogenomics, Rare and Autoinflammatory Diseases Unit, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.
  • Alkar F; Montpellier University, Service de Génétique Clinique, Centre de Compétence Maladies Osseuses Constitutionnelles, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.
  • Amouroux C; Montpellier University, Pediatric Endocrinology and Nephrology Unit, Rare Diseases Competence Center for Bone Mineral Disease and Skeletal Dysplasia, OSCAR Network, Montpellier University Hospital, Montpellier, France.
  • David S; Montpellier University, Département d'Imagerie Pédiatrique, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.
  • Prodhomme O; Montpellier University, Département d'Imagerie Pédiatrique, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.
  • Leboucq N; Montpellier University, Département d'Imagerie Pédiatrique, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.
  • Meunier I; Montpellier University, Département dOphtalmologie, Centre de Référence Maladies Sensorielles Génétiques, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.
  • Bessis D; Montpellier University, Département de Dermatologie, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.
  • Theron A; Montpellier University, Service d'Onco-hématologie Pédiatrique, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.
  • Barat-Houari M; Montpellier University, Department of Molecular Genetics and Cytogenomics, Rare and Autoinflammatory Diseases Unit, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.
  • Willems M; Montpellier University, Service de Génétique Clinique, Centre de Compétence Maladies Osseuses Constitutionnelles, Centre Hospitalier Universitaire de Montpellier, Montpellier, France; Montpellier University, Institute for Neurosciences of Montpellier, INSERM, Montpellier, France. Electronic address:
Eur J Med Genet ; 66(5): 104733, 2023 May.
Article in En | MEDLINE | ID: mdl-36842471
ABSTRACT
Autosomal recessive primary microcephaly type 3 (MCPH3) caused by pathogenic variations in CDK5RAP2, is characterized by sensorineural hearing loss, abnormality of skin pigmentation, ocular defects and severe microcephaly associated with neurodevelopmental delay. In this study, we expand the phenotype of MCPH3 as we describe a 10-year-old girl with a biallelic exonic frameshift variant in CDK5RAP2 displaying previously unreported features usually associated with Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II (MOPDII). We further describe the clinical phenotype of this form of centrosomal-based primary microcephaly and emphasize the importance of skeletal defect screening in affected individuals.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteochondrodysplasias / Dwarfism / Microcephaly Type of study: Diagnostic_studies / Risk_factors_studies Limits: Female / Humans Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2023 Document type: Article Affiliation country: Francia
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteochondrodysplasias / Dwarfism / Microcephaly Type of study: Diagnostic_studies / Risk_factors_studies Limits: Female / Humans Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2023 Document type: Article Affiliation country: Francia