title: Analysis of FKBP10, SERPINH1, and SERPINF1 genes in patients with osteogenesis imperfecta.
abstract: Osteogenesis imperfecta (OI) is a heterogeneous disorder that causes fragility, deformity, and fractures in bones. A large number of genes that are associated with the disease have been identified in the last decade; this makes the genetic diagnosis of OI more difficult. To improve our knowledge of the genetic mutation profile in OI we used single-stranded conformation polymorphism screening and automated sequencing to investigate the SERPINH1, FKBP10, and SERPINF1 genes, which are related to recessive OI, in 23 unrelated Brazilian patients. Nine rare changes and four common polymorphisms were detected. Most changes were benign genetic variants. In general, changes in the SERPINH1 and SERPINF1 genes were synonymous polymorphisms or missense changes located in non-coding regions. A pathogenic change was found in the FKBP10 gene. The characterization of mutations related to OI in distinct populations can improve our knowledge of the genetic aspects of OI and help us develop molecular strategies for the diagnosis of the disease.
authors.affiliation: Departamento de Ciências Biológicas, Núcleo de Genética Humana e Molecular, Centro de Ciências Humanas e Naturais, Universidade Federal do Espírito Santo, Campus de Maruípe, Vitória, ES, Brasil clarabarbirato@yahoo.com.br.|Programa de Pós-Graduação em Biotecnologia, Rede Nordeste de Biotecnologia, Centro de Ciências da Saúde, Universidade Federal do Espírito Santo, Campus de Maruípe, Vitória, ES, Brasil clarabarbirato@yahoo.com.br.
authors.forename: C
authors.initials: C
authors.lastname: Barbirato
authors.affiliation: Departamento de Ciências Biológicas, Núcleo de Genética Humana e Molecular, Centro de Ciências Humanas e Naturais, Universidade Federal do Espírito Santo, Campus de Maruípe, Vitória, ES, Brasil.|Programa de Pós-Graduação em Biotecnologia, Rede Nordeste de Biotecnologia, Centro de Ciências da Saúde, Universidade Federal do Espírito Santo, Campus de Maruípe, Vitória, ES, Brasil.
authors.forename: M
authors.initials: M
authors.lastname: Trancozo
authors.affiliation: Hospital Infantil Nossa Senhora da Glória, Santa Lúcia, Vitória, ES, Brasil.
authors.forename: M R G O
authors.initials: MR
authors.lastname: Rebouças
authors.affiliation: Hospital Infantil Nossa Senhora da Glória, Santa Lúcia, Vitória, ES, Brasil.
authors.forename: V
authors.initials: V
authors.lastname: Sipolatti
authors.affiliation: Hospital Infantil Nossa Senhora da Glória, Santa Lúcia, Vitória, ES, Brasil.
authors.forename: V R R
authors.initials: VR
authors.lastname: Nunes
authors.affiliation: Departamento de Ciências Biológicas, Núcleo de Genética Humana e Molecular, Centro de Ciências Humanas e Naturais, Universidade Federal do Espírito Santo, Campus de Maruípe, Vitória, ES, Brasil.|Programa de Pós-Graduação em Biotecnologia, Rede Nordeste de Biotecnologia, Centro de Ciências da Saúde, Universidade Federal do Espírito Santo, Campus de Maruípe, Vitória, ES, Brasil.
authors.forename: F
authors.initials: F
authors.lastname: Paula
mesh_terms: D001483:Base Sequence; D001842:Bone and Bones / Q000378:metabolism / Q000473:pathology; D001938:Brazil; D016022:Case-Control Studies; D005136:Eye Proteins / Q000235:genetics* / Q000378:metabolism; D015870:Gene Expression; D005808:Genes, Recessive; D050958:HSP47 Heat-Shock Proteins / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D009154:Mutation; D009414:Nerve Growth Factors / Q000235:genetics* / Q000378:metabolism; D010013:Osteogenesis Imperfecta / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D018807:Polymorphism, Single-Stranded Conformational; D015843:Serpins / Q000235:genetics* / Q000378:metabolism; D022021:Tacrolimus Binding Proteins / Q000235:genetics* / Q000378:metabolism; D000099174:Pigment Epithelium-Derived Factor
chemical_list: D005136:Eye Proteins; D050958:HSP47 Heat-Shock Proteins; D009414:Nerve Growth Factors; D015843:Serpins; D022021:Tacrolimus Binding Proteins; D000099174:Pigment Epithelium-Derived Factor; C494660:SERPINH1 protein, human; C110054:FKBP10 protein, human