The function of Bmps and Runx2 in normal tooth development and in the pathogenesis of cleidocranial dysplasia
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منابع مشابه
Identification of a Novel Splice Site Mutation in RUNX2 Gene in a Family with Rare Autosomal Dominant Cleidocranial Dysplasia
Introduction: Pathogenic variants of RUNX2, a gene that encodes an osteoblast-specific transcription factor, have been shown as the cause of CCD, which is a rare hereditary skeletal and dental disorder with dominant mode of inheritance and a broad range of clinical variability. Due to the relative lack of clinical complications resulting in CCD, the medical diagnosis of this disorder is challen...
متن کاملA novel RUNX2 mutation (T420I) in Chinese patients with cleidocranial dysplasia.
Cleidocranial dysplasia (CCD) is an autosomal-dominant heritable skeletal disease caused by heterozygous mutations in the RUNX2 gene. We studied a Chinese family that included three affected individuals with CCD phenotypes; the clinical features of patients with CCD include delayed closure of fontanelles, frontal bossing, dysplasia of clavicles, late tooth eruption, and other skeletal anomalies...
متن کاملA novel frameshift mutation in the NMTS domain of RUNX2 in a Chinese family with cleidocranial dysplasia
Cleidocranial dysplasia (CCD) is an autosomal dominant heritable skeletal disorder, caused by heterozygous mutations of Runx2. This study aimed to investigate the Runx2 mutation in a Chinese family with CCD and study the pathogenesis of the mutational Runx2 gene. A 29-year-old male was diagnosed as proband of CCD based on the clinical findings, which show hypoplastic clavicles, underdeveloped m...
متن کاملCleidocranial Dysplasia with Normal Clavicles: A Report of a Novel Genotype and a Review of Seven Previous Cases.
We report an unusual combination of features comprising delayed tooth eruption and closure of the anterior fontanel as the sole presenting features in a child with cleidocranial dysplasia (CCD). Radiological survey revealed the presence of wormian bones in the skull, pseudoepiphysis at the base of the bilateral second metacarpal, and midline ossification defects at pubic symphysis in the presen...
متن کاملA case of cleidocranial dysplasia with peculiar dental features: pathogenetic role of the RUNX2 mutation and long term follow-up.
This report deals with a case of Cleidocranial Dysplasia (CCD) associated to a rare mutation of the RUNX2 gene and a peculiar dental phenotype, namely no supernumerary teeth. The aim consists in evaluating the long-term follow-up after treatment and discussing the pathogenetic mechanism of the mutation. We have carried out a clinical evaluation after treatment and attempted to analyze the poten...
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