Cleidocranial dysplasia with a rare mutation: Study of a family with review of literature

摘要

Introduction: The present study was aimed at advancing the understanding of the pathogenesis of cleidocranial dysplasia (CCD) by presenting a case study based on history, physical examination, typical radiological features, and molecular analysis and a review of the literature. Methods: This study began with a 23-year-old boy (proband) who was referred to the department of oral and maxillofacial radiology with chief complaint of the upper-left first molar tooth and routine dental examination. While evaluating the panoramic radiograph, the patient had approximately 57 teeth in his both of the jaws. Clinical, radiographical and molecular features of the proband, two siblings and their parents were examined and then, DNA analysis was performed. Results: Overall, we present 3 CCD patients with a mutation in the VWRPY motif. The deletion of c. 1754_1757 delTTTG (NM_001024630.2) is determined and it leads to a frame shift mutation and stop codon, p. V585Gfs56X. Conclusions: The present study emphasized the importance of further clinical and molecular investigation when even a single case of CCD is identified within a family. This is the first study performed in Turkey about a family with a mutation in the VWRPY motif. Genotype-phenotype association studies in individuals with CCD are necessary to provide important insights into molecular mechanisms associated with this disease.