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

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

Research Abstract Table of Contents

Jump to the:

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

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

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, alpha1(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 alpha1(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.

Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta. Publishing Authors By Initials

WA Cabral,W Chang,AM Barnes,M Weis,MA Scott,S Leikin,E Makareeva,NV Kuznetsova,KN Rosenbaum,CJ Tifft,DI Bulas,C Kozma,PA Smith,DR Eyre,JC Marini,

For similar diagnosis: diagnostic techniques and procedures: diagnostic imaging: ultrasonography: ultrasonography, prenatal research abstracts see: diagnosis: diagnostic techniques and procedures: diagnostic imaging: ultrasonography: ultrasonography, prenatal research

PUBMED ID PMID:

MEDLINE DATE:

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

PUBLICATION TYPE: Research Support, N.I.H., Extr

Journal: Nature genetics

VOLUME: 39

Page Numbers: 359-65

Journal Abbreviation: Nat. Genet.

ISSN: 1061-4036

DAY: 4

MONTH: 02

YEAR: 2007

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

Number of References:

LANGUAGE: eng

NlmUniqueID: 9216904

Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta. Keywords Mesh Terms:

KEYWORDS: Ultrasonography, Prenatal

MESH TERMS: genetics

Chemical & Substance for Abstract: Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta. Information

Substance Name: proline, 2-oxoglutarate 3-dioxygenase

Registry Number: EC 1.14.11.7

Grant and Affiliation Information for Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta.

AFFILIATION: Bone and Extracellular Matrix Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA.

Country: United States

AGENCY: United States NICHD

GRANT: HD22657

ACRONYM: HD

MEDLINETA: Nat Genet

REFSOURCE:

DATABASENAME:

ACCESSION NUMBER:

Number Hits: 0

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

• Allergic manifestations in very low-birthweight infants: a 6-year follow-up.
• Brain-derived neurotrophic factor in neuronal survival and behavior-related plasticity.
• Control of graft-versus-host disease with maintenance of the graft-versus-leukemia effect in a murine allogeneic transplant model using retrovirally transduced murine suicidal lymphocytes.
• Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.
• Do airway secretions play an underappreciated role in acute respiratory distress syndrome?
• Hydrolysed proteins in preterm formula: influence on plasma aminoacids, blood fatty acids and insulinaemia.
• Inflammation and tumor microenvironments: defining the migratory itinerary of mesenchymal stem cells.
• Intracellular study of presumed interneurons in the ventrobasal complex of cats with chronic cortical ablations.
• MDCT of the breast.
• Mesenchymal stem cells in cancer: tumor-associated fibroblasts and cell-based delivery vehicles.
• Meta-analysis: Convenient assumptions and inconvenient truth.
• Monitoring the mechanically ventilated patient.
• Not just right experience: Is it influenced by feelings of guilt?
• Orthodontic treatment of TMJ disc displacement with pain: an 18 year follow-up.
• Paranasal sinuses anatomic variants: 64-slice CT evaluation.
• Perioral dermatitis after dental filling in a 12-year-old girl: involvement of cholinergic system in skin neuroinflammation?
• Persistence of regenerative myogenesis in spite of down-regulation of activity-dependent genes in long-term denervated rat muscle.
• Post-discharge nutrition of the very low-birthweight infant: interim results of the multicentric GAMMA study.
• Prebiotic concept for infant nutrition.
• Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta.
• Psychopathology and clinical features in an Italian sample of patients with myofascial and temporomandibular joint pain: preliminary data.
• Recognition of category-related visual stimuli in Parkinson's disease: before and after pharmacological treatment.
• Somatotype in elderly type 2 diabetes patients.
• Sperm binding glycoprotein (SBG) produces calcium and bicarbonate dependent alteration of acrosome morphology and protein tyrosine phosphorylation on boar sperm.
• The "open lung" compromise.
• Tumor irradiation increases the recruitment of circulating mesenchymal stem cells into the tumor microenvironment.
• Tumor-specific tRNA modifications in mouse plasmacytomas and other tumors.
• Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype.
• [Formation & inactivation of hormones of the adrenal medulla in the organism.]
• [Sanitary and social equipment in France. Problems and perspectives.]