Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2012 Dec 5:2012: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

Michele Callea  1 , Fabiana Fattori, Izzet Yavuz, Enrico Bertini
Affiliations
Case Reports

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

Michele Callea et al. BMJ Case Rep. .

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.

PubMed Disclaimer

References

    1. Ott CE, Hein H, Lohan S, et al. Microduplications upstream of MSX2 are associated with a phenocopy of cleidocranial dysplasia. J Med Genet 2012;49:437–41. - PubMed
    1. Ott CE, Leschik G, Trotier F, et al. Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia. Hum Mutat 2010;31:E1587–93. - PubMed
    1. Jensen BL, Kreiborg S. Development of the dentition in cleidocranial dysplasia. Joral Pathol Med 1990;19:89–93. - PubMed
    1. Quack I, Vonderstrass B, Stock M, et al. Mutation analysis of core binding factor A1 in patients with cleidocranial dyspl. Am J Hum Genet 1999;65:1268–78. - PMC - PubMed
    1. Kim HJ, Nam SH, Park HS, et al. Four novel RUNX2 mutations including a spliced donor site result in the cleidocranial dyspasia. J Cell Physiol 2006;207:114–22. - PubMed

Publication types

Substances

LinkOut - more resources