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• W2095864371 abstract "Mutations in the RUNX2 gene, a master regulator of bone formation, have been identified in cleidocranial dysplasia (CCD) patients. CCD is a rare autosomal-dominant disease characterized by the delayed closure of cranial sutures, defects in clavicle formation, and supernumerary teeth. The purposes of this study were to identify genetic causes of two CCD nuclear families and to report their clinical phenotypes.We identified two CCD nuclear families and performed mutational analyses to clarify the underlying molecular genetic etiology.Mutational analysis revealed a novel nonsense mutation (c.273T>A, p.L93X) in family 1 and a de novo missense one (c.673C>T, p.R225W) in family 2. Individuals with a nonsense mutation showed maxillary hypoplasia, delayed eruption, multiple supernumerary teeth, and normal stature. In contrast, an individual with a de novo missense mutation in the Runt domain showed only one supernumerary tooth and short stature.Mutational and phenotypic analyses showed that the severity of mutations on the skeletal system may not necessarily correlate with that of the disruption of tooth development." @default.
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• W2095864371 date "2010-01-01" @default.
• W2095864371 modified "2023-10-03" @default.
• W2095864371 title "RUNX2 mutations in cleidocranial dysplasia patients" @default.
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• W2095864371 doi "https://doi.org/10.1111/j.1601-0825.2009.01623.x" @default.
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