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  Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia

Ott, C. E., Leschik, G., Trotier, F., Brueton, L., Brunner, H. G., Brussel, W., et al. (2010). Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia. Human Mutation, 31(8), E1587-93. doi:10.1002/humu.21298.

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Genre: Journal Article
Alternative Title : Hum Mutat

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Ott, C. E., Author
Leschik, G., Author
Trotier, F.1, Author              
Brueton, L., Author
Brunner, H. G., Author
Brussel, W., Author
Guillen-Navarro, E., Author
Haase, C., Author
Kohlhase, J., Author
Kotzot, D., Author
Lane, A., Author
Lee-Kirsch, M. A., Author
Morlot, S., Author
Simon, M. E., Author
Steichen-Gersdorf, E., Author
Tegay, D. H., Author
Peters, H., Author
Mundlos, S.1, Author              
Klopocki, E.1, Author              
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              

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Free keywords: cleidocranial dysplasia; CCD; Runt-related Transcription Factor 2; RUNX2
 Abstract: Cleidocranial Dysplasia (CCD) is an autosomal dominant skeletal disorder characterized by hypoplastic or absent clavicles, increased head circumference, large fontanels, dental anomalies, and short stature. Hand malformations are also common. Mutations in RUNX2 cause CCD, but are not identified in all CCD patients. In this study we screened 135 unrelated patients with the clinical diagnosis of CCD for RUNX2 mutations by sequencing analysis and demonstrated 82 mutations 48 of which were novel. By quantitative PCR we screened the remaining 53 unrelated patients for copy number variations in the RUNX2 gene. Heterozygous deletions of different size were identified in 13 patients, and a duplication of the exons 1 to 4 of the RUNX2 gene in one patient. Thus, heterozygous deletions or duplications affecting the RUNX2 gene may be present in about 10% of all patients with a clinical diagnosis of CCD which corresponds to 26% of individuals with normal results on sequencing analysis. We therefore suggest that screening for intragenic deletions and duplications by qPCR or MLPA should be considered for patients with CCD phenotype in whom DNA sequencing does not reveal a causative RUNX2 mutation.

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Language(s): eng - English
 Dates: 2010-06-03
 Publication Status: Published in print
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Title: Human Mutation
  Alternative Title : Hum Mutat
Source Genre: Journal
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Pages: - Volume / Issue: 31 (8) Sequence Number: - Start / End Page: E1587 - 93 Identifier: ISSN: 1059-7794