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Rare disease
A new phenotypic variant in cleidocranial dysplasia (CCD) associated with mutation c.391C>T of the RUNX2 gene
  1. Michele Callea1,
  2. Fabiana Fattori2,
  3. Izzet Yavuz3,
  4. Enrico Bertini2
  1. 1Institute for Maternal and Child Health—IRCCS ‘Burlo Garofolo’, Trieste, Italy
  2. 2Unit of Neuromuscular Disorders, Rehabilitation and Laboratory of Biochemistry, Bambino Gesu' Children's Research Hospital IRCCS , Rome, Italy
  3. 3Department of Paediatric Dentistry, University of Dicle, Diyarbakir, Turkey
  1. Correspondence to Dr Michele Callea, Department of Maxillo Facial Surgery and Paediatric Dentistry, Institute for Maternal and Child Health — IRCCS ‘Burlo Garofolo’- Trieste, Italy; mcallea{at}


The 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.

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