A new phenotypic variant in cleidocranial dysplasia (CCD) associated with mutation c.391C>T of the RUNX2 gene

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dc.contributor.authorCallea, Michele
dc.contributor.authorFattori, Fabiana
dc.contributor.authorYavuz, İzzet
dc.contributor.authorBertini, Enrico
dc.contributor.orcid0000-0002-0683-1310
dc.date.accessioned2024-04-24T17:56:30Z
dc.date.available2024-04-24T17:56:30Z
dc.date.issued2012
dc.departmentDicle Üniversitesien_US
dc.description.abstractThe RUNX2 gene is a physiological regulatory gene implicated in the development of cleidocranial dysplasia (CCD). A 13-month-old child presented with clinical features of CCD. At the age of 3 years the diagnosis was corroborated by clinical genetic assessment and DNA analysis, revealing a missense mutation p.R131C (c.391C>T) in RUNX2. At the age of 8 years the child was found to have a unique dental phenotype, represented by lack of supernumerary teeth and congenital absence of one tooth. A simple therapeutic approach was adopted, consisting of interceptive orthodontic treatment. The presence of this specific missense mutation in RUNX2, associated with the lack of typical supernumerary teeth may suggest a phenotype-genotype association.en_US
dc.identifier.citationCallea, M., Fattori, F., Yavuz, İ. ve Bertini, E. (2012). A new phenotypic variant in cleidocranial dysplasia (CCD) associated with mutation c.391C>T of the RUNX2 gene. BMJ Case Reports.
dc.identifier.doi10.1136/bcr-12-2011-5422
dc.identifier.issn1757-790X
dc.identifier.pmid23220435
dc.identifier.scopus2-s2.0-84872173081
dc.identifier.scopusqualityQ2
dc.identifier.urihttps://doi.org/10.1136/bcr-12-2011-5422
dc.identifier.urihttps://hdl.handle.net/11468/23543
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoenen_US
dc.publisherBMJ Publishing Groupen_US
dc.relation.ispartofBMJ Case Reports
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.titleA new phenotypic variant in cleidocranial dysplasia (CCD) associated with mutation c.391C>T of the RUNX2 geneen_US
dc.titleA new phenotypic variant in cleidocranial dysplasia (CCD) associated with mutation c.391C>T of the RUNX2 gene
dc.typeArticleen_US

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