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Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta

Marini, Joan C ; Cabral, Wayne A ; Chang, Weizhong ; Barnes, Aileen M ; Weis, MaryAnn ; Scott, Melissa A ; Leikin, Sergey ; Makareeva, Elena ; Kuznetsova, Natalia V ; Rosenbaum, Kenneth N ; Tifft, Cynthia J ; Bulas, Dorothy I ; Kozma, Chahira ; Smith, Peter A ; Eyre, David R

Nature genetics, 2007-03, Vol.39 (3), p.359-365 [Periódico revisado por pares]

London: Nature Publishing Group

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Título:
Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta
Autor: Marini, Joan C ; Cabral, Wayne A ; Chang, Weizhong ; Barnes, Aileen M ; Weis, MaryAnn ; Scott, Melissa A ; Leikin, Sergey ; Makareeva, Elena ; Kuznetsova, Natalia V ; Rosenbaum, Kenneth N ; Tifft, Cynthia J ; Bulas, Dorothy I ; Kozma, Chahira ; Smith, Peter A ; Eyre, David R
Assuntos: African Americans ; Biological and medical sciences ; Bone diseases ; Bone Diseases, Metabolic - genetics ; Bone Diseases, Metabolic - pathology ; Collagen Type I - metabolism ; Diagnosis ; Diseases of the osteoarticular system ; Female ; Fundamental and applied biological sciences. Psychology ; Genes, Recessive ; Genetic disorders ; Genetics of eukaryotes. Biological and molecular evolution ; Genotype & phenotype ; Humans ; Hydroxylases ; Male ; Malformations and congenital and or hereditary diseases involving bones. Joint deformations ; Mass Spectrometry ; Medical sciences ; Membrane Glycoproteins - deficiency ; Membrane Glycoproteins - genetics ; Metabolism ; Mutation ; Osteogenesis imperfecta ; Osteogenesis Imperfecta - diagnostic imaging ; Osteogenesis Imperfecta - genetics ; Osteogenesis Imperfecta - pathology ; Phenotype ; Physiological aspects ; Procollagen-Proline Dioxygenase - deficiency ; Procollagen-Proline Dioxygenase - genetics ; Prolyl Hydroxylases ; Proteoglycans - deficiency ; Proteoglycans - genetics ; Radiography ; Risk factors ; Time Factors ; Ultrasonography, Prenatal
É parte de: Nature genetics, 2007-03, Vol.39 (3), p.359-365
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AUTHOR CONTRIBUTIONS
W.A.C., W.C., A.M.B. were responsible for the design and execution of all experiments except for the differential scanning calorimetry (E.M. and N.V.K., under the guidance of S.L.) and mass spectrometry (M.A.W. and M.A.S., under the guidance of D.R.E.). K.N.R., C.J.T., D.I.B., C.K. and P.A.S. referred the probands to J.C.M. and contributed syndrome description and clinical insights. The manuscript was primarily written by J.C.M., with contributions from W.A.C. and critical revisions from W.C., A.M.B., D.R.E. and S.L. J.C.M. was responsible for overall study strategy and design, and clinical insight in selection of cases to be screened.
Descrição: A recessive form of severe osteogenesis imperfecta that is not caused by mutations in type I collagen has long been suspected. Mutations in human CRTAP (cartilage-associated protein) causing recessive bone disease have been reported. CRTAP forms a complex with cyclophilin B and prolyl 3-hydroxylase 1, which is encoded by LEPRE1 and hydroxylates one residue in type I collagen, α1(I)Pro986. We present the first five cases of a new recessive bone disorder resulting from null LEPRE1 alleles; its phenotype overlaps with lethal/severe osteogenesis imperfecta but has distinctive features. Furthermore, a mutant allele from West Africa, also found in African Americans, occurs in four of five cases. All proband LEPRE1 mutations led to premature termination codons and minimal mRNA and protein. Proband collagen had minimal 3-hydroxylation of α1(I)Pro986 but excess lysyl hydroxylation and glycosylation along the collagen helix. Proband collagen secretion was moderately delayed, but total collagen secretion was increased. Prolyl 3-hydroxylase 1 is therefore crucial for bone development and collagen helix formation.
Editor: London: Nature Publishing Group
Idioma: Inglês

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Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta

Marini, Joan C ; Cabral, Wayne A ; Chang, Weizhong ; Barnes, Aileen M ; Weis, MaryAnn ; Scott, Melissa A ; Leikin, Sergey ; Makareeva, Elena ; Kuznetsova, Natalia V ; Rosenbaum, Kenneth N ; Tifft, Cynthia J ; Bulas, Dorothy I ; Kozma, Chahira ; Smith, Peter A ; Eyre, David R

London: Nature Publishing Group

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