title: Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans.
abstract: 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.
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
authors.forename: Ranad
authors.initials: R
authors.lastname: Shaheen
authors.forename: Mohammed
authors.initials: M
authors.lastname: Al-Owain
authors.forename: Eissa
authors.initials: E
authors.lastname: Faqeih
authors.forename: Nadia
authors.initials: N
authors.lastname: Al-Hashmi
authors.forename: Ali
authors.initials: A
authors.lastname: Awaji
authors.forename: Zayed
authors.initials: Z
authors.lastname: Al-Zayed
authors.forename: Fowzan S
authors.initials: FS
authors.lastname: Alkuraya
mesh_terms: D000293:Adolescent; D001176:Arthrogryposis / Q000235:genetics* / Q000473:pathology*; D001483:Base Sequence; D002648:Child; D005260:Female; D040461:Gene Components; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D010013:Osteogenesis Imperfecta / Q000235:genetics* / Q000473:pathology*; D012529:Saudi Arabia; D017422:Sequence Analysis, DNA; D022021:Tacrolimus Binding Proteins / Q000235:genetics*
chemical_list: D022021:Tacrolimus Binding Proteins; C110054:FKBP10 protein, human