TITLE:
Cleidocranial dysplasia with a rare mutation: Study of a family with review of literature
AUTHORS:
Ahmet Ercan Sekerci, Burhan Balta, Oğuzhan Bahadir, Yildiray Sisman, Munis Dundar, Turgut Tursem Tokmak, Stefan Mundlos
KEYWORDS:
Cleidocranial Dysplasia; Mutation; RUNX2; Gene; Impacted Supernumeraries
JOURNAL NAME:
Open Journal of Stomatology,
Vol.3 No.8,
November
15,
2013
ABSTRACT: 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.