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We have recently shown that <jats:italic>FKBP10<\/jats:italic> 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 <jats:italic>FKBP10<\/jats:italic> mutation that results in isolated OI as well as BS phenotype in the same family. These results, combined with recently published work, confirm that <jats:italic>FKBP10<\/jats:italic> is a bonafide BS locus and lay the foundation for future research into modifiers that underlie the phenotypic heterogeneity of <jats:italic>FKBP10<\/jats:italic> mutations. \u00a9 2011 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.34025","type":"journal-article","created":{"date-parts":[[2011,5,12]],"date-time":"2011-05-12T21:41:26Z","timestamp":1305236486000},"page":"1448-1452","source":"Crossref","is-referenced-by-count":70,"title":["Mutations in <i>FKBP10<\/i> cause both Bruck syndrome and isolated osteogenesis imperfecta in 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