How to Cite this Article: Shaheen R, Al-Owain M, Faqeih E, Al-Hashmi N, Awaji A, Al-Zayed Z, Alkuraya F S. 2011. Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans. Am J Med Genet Part A 155:1448–1452.
Article first published online: 12 MAY 2011
Copyright © 2011 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 155, Issue 6, pages 1448–1452, June 2011
How to Cite
Shaheen, R., Al-Owain, M., Faqeih, E., Al-Hashmi, N., Awaji, A., Al-Zayed, Z. and Alkuraya, F. S. (2011), Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans. Am. J. Med. Genet., 155: 1448–1452. doi: 10.1002/ajmg.a.34025
Authors declare no conflict of interest.
- Issue published online: 20 MAY 2011
- Article first published online: 12 MAY 2011
- Manuscript Accepted: 12 MAR 2011
- Manuscript Received: 5 JAN 2011
- Bruck syndrome;
- osteogenesis imperfecta;
- phenotypic variability;
Bruck syndrome (BS) is an autosomal recessive syndromic form of osteogenesis imperfecta (OI) that is characterized by the additional presence of pterygium formation. We have recently shown that FKBP10 previously reported as a novel autosomal recessive OI gene also defines a novel Bruck syndrome locus (BKS3). In this manuscript, we extend our analysis to describe a mutation previously described in isolated OI patients and show that it results in BS phenotype in a Saudi family. More interestingly, we describe a novel FKBP10 mutation that results in isolated OI as well as BS phenotype in the same family. These results, combined with recently published work, confirm that FKBP10 is a bonafide BS locus and lay the foundation for future research into modifiers that underlie the phenotypic heterogeneity of FKBP10 mutations. © 2011 Wiley-Liss, Inc.