Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia
| Autor: | Gundula Leschik, Susanne Morlot, Claus-Eric Ott, Juergen Kohlhase, Louise Brueton, Fabienne Trotier, Claudia M. Haase, Min Ae Lee-Kirsch, Eva Klopocki, Elisabeth Steichen-Gersdorf, Stefan Mundlos, Andrew H. Lane, Dieter Kotzot, Hartmut Peters, David Tegay, Wim Brussel, Encarna Guillén-Navarro, Han G. Brunner, Marleen Simon |
|---|---|
| Přispěvatelé: | Institut für Medizinische Genetik, Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Clinical Genetics Unit, Birmingham Women's Hospital, Dept. of Human Genetics, Radboud University Medical Center [Nijmegen], Department of Pediatrics, Hospital Rijnstate Arnhem, Pediatrics, Hospital Virgen de la Arrixaca, Friedrich-Schiller-Universität = Friedrich Schiller University Jena [Jena, Germany], Praxis für Humangenetik, Division of Clinical Genetics, Innsbruck Medical University [Austria] (IMU), Stony Brook University [SUNY] (SBU), State University of New York (SUNY)-State University of New York (SUNY), Klinik für Kinder- und Jugendmedizin, Technische Universität Dresden = Dresden University of Technology (TU Dresden), MVZ wagnerstibbe, Department of Clinical Genetics, Erasmus University Medical Center [Rotterdam] (Erasmus MC), Department of Medicine, New York Institure of Technology (NYIT), Max-Planck-Institut für Molekulare Genetik (MPIMG), Max-Planck-Gesellschaft, Clinical Genetics, Medical Oncology |
| Rok vydání: | 2010 |
| Předmět: |
musculoskeletal diseases
Heterozygote DNA Mutational Analysis Biology medicine.disease_cause Polymerase Chain Reaction Short stature Genomic disorders and inherited multi-system disorders [IGMD 3] 03 medical and health sciences Exon 0302 clinical medicine Skeletal disorder stomatognathic system Gene duplication Genetics medicine Humans Copy-number variation Multiplex ligation-dependent probe amplification Genetics (clinical) 030304 developmental biology 0303 health sciences Mutation Cleidocranial Dysplasia urogenital system Life Sciences equipment and supplies Molecular biology 3. Good health medicine.symptom Gene Deletion 030217 neurology & neurosurgery |
| Zdroj: | Human Mutation, 31, E1587-93 Human Mutation Human Mutation, Wiley, 2010, 31 (8), ⟨10.1002/humu.21298⟩ Human Mutation, 31, 8, pp. E1587-93 Human Mutation, 31(8), E1587-E1593. Wiley-Liss Inc. |
| ISSN: | 1059-7794 1098-1004 |
| DOI: | 10.1002/humu.21298⟩ |
| Popis: | Contains fulltext : 88233.pdf (Publisher’s version ) (Closed access) Cleidocranial Dysplasia (CCD) is an autosomal dominant skeletal disorder characterized by hypoplastic or absent clavicles, increased head circumference, large fontanels, dental anomalies, and short stature. Hand malformations are also common. Mutations in RUNX2 cause CCD, but are not identified in all CCD patients. In this study we screened 135 unrelated patients with the clinical diagnosis of CCD for RUNX2 mutations by sequencing analysis and demonstrated 82 mutations 48 of which were novel. By quantitative PCR we screened the remaining 53 unrelated patients for copy number variations in the RUNX2 gene. Heterozygous deletions of different size were identified in 13 patients, and a duplication of the exons 1 to 4 of the RUNX2 gene in one patient. Thus, heterozygous deletions or duplications affecting the RUNX2 gene may be present in about 10% of all patients with a clinical diagnosis of CCD which corresponds to 26% of individuals with normal results on sequencing analysis. We therefore suggest that screening for intragenic deletions and duplications by qPCR or MLPA should be considered for patients with CCD phenotype in whom DNA sequencing does not reveal a causative RUNX2 mutation. 01 augustus 2010 |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text