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BMJ Case Rep. 2012 Dec 5;2012. pii: bcr1220115422. doi: 10.1136/bcr-12-2011-5422.

A new phenotypic variant in cleidocranial dysplasia (CCD) associated with mutation c.391C>T of the RUNX2 gene.

Author information

  • 1Institute for Maternal and Child Health--IRCCS Burlo Garofolo, Trieste, Italy. mcallea@gmail.com

Abstract

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.

PMID:
23220435
[PubMed - indexed for MEDLINE]
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