ArticleInternational journal of clinical and experimental pathology2015
Novel mutation of RUNX2 gene in a patient with cleidocranial dysplasia.
Article in International journal of clinical and experimental pathology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 23 citations in OpenAlex.
- Review
- The Biphasic Activity of Auricularia Auricula-Judae Extract on Bone Homeostasis through Inhibition of Osteoclastogenesis and Modulation of Osteogenic Activity.Journal of microbiology and biotechnology · 2024Article
- Rare Findings in Cleidocranial Dysplasia Caused by RUNX Mutation.Global medical genetics · 2022Article
- LIM Kinases in Osteosarcoma Development.Cells · 2021Review
- Signaling Pathways in Bone Development and Their Related Skeletal Dysplasia.International journal of molecular sciences · 2021Review
- Is Prenatal Diagnosis Necessary for Fetal Isolated Nasal Bone Absence or Hypoplasia?International journal of general medicine · 2021Article
- The evolving role of genetic tests in reproductive medicine.Journal of translational medicine · 2019Review
- Delayed Eruption of Permanent Dentition and Maxillary Contraction in Patients with Cleidocranial Dysplasia: Review and Report of a Family.International journal of dentistry · 2018Review
- Recent developments in genetics and medically assisted reproduction: from research to clinical applications.European journal of human genetics : EJHG · 2018Review
- A novel gene mutation of Runx2 in cleidocranial dysplasia.Journal of Huazhong University of Science and Technology. Medical sciences = Hua zhong ke ji da xue xue bao. Yi xue Ying De wen ban = Huazhong keji daxue xuebao. Yixue Yingdewen ban · 2017Article
- Novel Mutation of theMolecular syndromology · 2017Article
- Article
- Recent developments in genetics and medically-assisted reproduction: from research to clinical applicationsHuman reproduction open · 2017Article
- RUNX2 Mutation Impairs 1α,25-Dihydroxyvitamin D3 mediated Osteoclastogenesis in Dental Follicle Cells.Scientific reports · 2016Article
- MiR-30a regulates the proliferation, migration, and invasion of human osteosarcoma by targeting Runx2.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2016Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCleidocranial dysplasia is a rare hereditary skeletal disorder due to heterozygous loss of function mutations in the RUNX2 gene that encodes runt-related transcription factor 2 (RUNX2). Here we report a 52 year-old woman with cleidocranial dysplasia due to a novel RUNX2 mutation. CASE DESCRIPTION: A 52 year-old Han Chinese woman presented with short stature and skeletal dysplasia that was first noted during early childhood. She was 153 cm in height and 40 kg in weight. Her skull was deformed with hypertelorism, midface hypoplasia, protrusion of chin, and dental abnormalities. Radiological examination revealed shortened clavicles and depressed skull bone and that were consistent with the clinical diagnosis of cleidocranial dysplasia. There was no family history of a similar skeletal disorder. We sequenced the RUNX2 gene and discovered a novel heterozygous mutation in exon 3 (c.476 del G, p.G159fs175X) that is predicted to cause a frameshift and premature termination that leads to the loss of the final 347 amino acid residues. This severely truncated protein is expected to be inactive. LITERATURE REVIEW: RUNX2 gene controls osteoblast differentiation and chondrocyte maturation. Around 90 RUNX2 mutations have been discovered in patients with cleidocranial dysplasia. CLINICAL RELEVANCE: We identified a case of cleidocranial dysplasia due to a novel mutation of RUNX2 gene at exon 3 (c.476 del G).
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25755819PMC4348862W125956459What OpenQuestion holds
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