Golan, Ilan and Preising, M. and Wagener, H. and Baumert, U. and Niederdellmann, H. and Lorenz, S. and Muessig, D. (2000) A novel missense mutation of the CBFA1 gene in a family with cleidocranial dysplasia (CCD) and variable expressivity. JOURNAL OF CRANIOFACIAL GENETICS AND DEVELOPMENTAL BIOLOGY, 20 (3). pp. 113-120. ISSN 0270-4145
Full text not available from this repository. (Request a copy)Abstract
The aim of this study was to analyze the CBFA1 gene in a phenotypically variable family with autosomal dominant cleidocranial dysplasia (CCD). Five members of a family with CCD were characterized clinically. X-rays and photographs of the two clinically affected family members were taken. The genotype of all five affected family members was determined with the use of single strand conformation polymorphism (SSCP) and direct sequencing. A point-mutation in exon 2 (R148G) was detected in a patient with the full-blown clinical phenotype. His son, demonstrating the same mutation, showed only the dental CCD characteristics. No mutation could be found in the three clinically healthy family members. To conclude, a missense mutation in the CBFA1 gene was detected in a family with variably expressed CCD syndrome. A detailed clinical examination is necessary to detect minimally affected gene mutation carriers.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | OSTEOBLAST DIFFERENTIATION; OSF2/CBFA1; DNA; eburnisation; bone development; bone dysplasia; RUNT domain; RUNX2 |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Abteilung für Pädiatrische Ophthalmologie, Strabismologie und Ophthalmogenetik Medicine > Lehrstuhl für Kieferorthopädie Medicine > Lehrstuhl für Mund-, Kiefer- und Gesichtschirurgie |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 05 Apr 2022 08:47 |
| Last Modified: | 05 Apr 2022 08:47 |
| URI: | https://pred.uni-regensburg.de/id/eprint/42356 |
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