Excess paternal age in apparently sporadic osteogenesis imperfecta. Bonadio, J. Transgenic mouse model of the mild dominant form of osteogenesis imperfecta. Boright, A. Osteogenesis imperfecta: a heterogeneous morphologic phenotype in cultured dermal fibroblasts.
Byers, P. Molecular pathology in inherited disorders of collagen metabolism. Molecular mechanisms of abnormal bone matrix formation in osteogenesis imperfecta. In: Veis, A. Biochemical heterogeneity in osteogenesis imperfecta. Abstract Am. Genetic evaluation of suspected osteogenesis imperfecta OI. Abnormal alpha2-chain in type I collagen from a patient with a form of osteogenesis imperfecta. Osteogenesis imperfecta: translation of mutation to phenotype.
Osteogenesis imperfecta. In: Royce, P. New York: Wiley-Liss pub. Carothers, A. Risk of dominant mutation in older fathers: evidence from osteogenesis imperfecta. Castells, S. Therapy of osteogenesis imperfecta with synthetic salmon calcitonin.
Cetta, G. Biochemical investigations of different forms of osteogenesis imperfecta: evaluation of 44 cases. Tissue Res. Chamberlain, J. Gene targeting in stem cells from individuals with osteogenesis imperfecta. Science , Cohn, D. Substitution of cysteine for glycine within the carboxyl-terminal telopeptide of the alpha1 chain of type I collagen produces mild osteogenesis imperfecta. Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro-alpha-1 I collagen allele.
De Vos, A. Two pregnancies after preimplantation genetic diagnosis for osteogenesis imperfecta type I and type IV. Delvin, E. In vitro sulfate turnover in osteogenesis imperfecta congenita and tarda.
Dickson, I. Evidence for abnormality of bone-matrix proteins in osteogenesis imperfecta. Lancet , Note: Originally Volume II. Francis, M. Osteogenesis imperfecta: a new classification. Birth Defects Orig. XI 6 : , Instability of polymeric skin collagen in osteogenesis imperfecta. Polymeric collagen of skin in osteogenesis imperfecta, homocystinuria, Ehlers-Danlos and Marfan syndromes. The relative amounts of the collagen chains alpha-1 I , alpha-2 and alpha-1 III in the skin of 31 patients with osteogenesis imperfecta.
Garretsen, T. Clinical and genetic aspects in autosomal dominant inherited osteogenesis imperfecta type I. Gauba, V. Synthetic collagen heterotrimers: structural mimics of wild-type and mutant collagen type I. Genovese, C. Analysis of cytoplasmatic and nuclear messenger RNA in fibroblasts from patients with type I osteogenesis imperfecta. Methods Enzymol. Glorieux, F. Cyclic administration of pamidronate in children with severe osteogenesis imperfecta.
New Eng. Hansen, B. The mechanical properties of skin in osteogenesis imperfecta. Hartikka, H. Note: Erratum: Hum. Heys, F. Osteogenesis imperfecta and odontogenesis imperfecta: clinical and genetic aspects in eighteen families. Hortop, J. Cardiovascular involvement in osteogenesis imperfecta.
Circulation , Horwitz, E. Isolated allogeneic bone marrow-derived mesenchymal cells engraft and stimulate growth in children with osteogenesis imperfecta: implications for cell therapy of bone. Kaiser-Kupfer, M. Low ocular rigidity in patients with osteogenesis imperfecta.
Kozma, C. Skeletal dysplasia in ancient Egypt. Kuurila, K. Vestibular dysfunction in adult patients with osteogenesis imperfecta. Labhard, M. A cysteine for glycine substitution at position in an alpha-1 I chain of type I collagen in a patient with mild dominantly inherited osteogenesis imperfecta.
Lancaster, G. Dominantly inherited osteogenesis imperfecta in man: an examination of collagen biosynthesis. Lee, Y. Cyclic pamidronate infusion improves bone mineralisation and reduces fracture incidence in osteogenesis imperfecta. Levin, L. Scanning electron microscopy of teeth in dominant osteogenesis imperfecta.
Dominant osteogenesis imperfecta: heterogeneity and variation in expression. Classification of osteogenesis imperfecta by dental characteristics. Letter Lancet , Note: Originally Volume I. Osteogenesis imperfecta type I with unusual dental abnormalities. Lindberg, K. Abnormal collagen crosslinks in a family with osteogenesis imperfecta. Abstract Clin. Lindsay, R. Modeling the benefits of pamidronate in children with osteogenesis imperfecta. Lukinmaa, P. Dental findings in osteogenesis imperfecta: I.
Occurrence and expression of type I dentinogenesis imperfecta. Lynch, J. Prenatal diagnosis of osteogenesis imperfecta by identification of the concordant collagen 1 allele. Makareeva, E. Structural heterogeneity of type I collagen triple helix and its role in osteogenesis imperfecta. Marini, J.
Osteogenesis imperfecta--managing brittle bones. Editorial New Eng. Martin, G. Collagen synthesis by cultured human fibroblasts. Abstract Isr. Mayer, S. Spontaneous multivessel cervical artery dissection in a patient with a substitution of alanine for glycine G13A in the alpha-1 I chain of type I collagen. Neurology , Mottes, M. Segregation analysis of dominant osteogenesis imperfecta in Italy.
Muller, P. Presence of type III collagen in bone from a patient with osteogenesis imperfecta. Nicholls, A. Type I collagen mutation in osteogenesis imperfecta and inherited osteoporosis. An abnormal collagen alpha-chain containing cysteine in autosomal dominant osteogenesis imperfecta. Paterson, C. Heterogeneity of osteogenesis imperfecta type I. Pedersen, U. Central corneal thickness in osteogenesis imperfecta and otosclerosis. ORL J. Hearing loss in patients with osteogenesis imperfecta.
A clinical and audiological study of patients. Penttinen, R. Abnormal collagen metabolism in cultured cells in osteogenesis imperfecta. Prockop, D. One strategy for cell and gene therapy: harnessing the power of adult stem cells to repair tissues.
Heritable diseases of collagen. Targeting gene therapy for osteogenesis imperfecta. Bowed thighbone. Knock knees. Elevated urine calcium levels. Excessive sweating. Increased sweating. Profuse sweating. Sweating profusely.
Sweating, increased. Joints move beyond expected range of motion. Wide fontanelles. Low chest circumference. Narrow shoulders. Long bones slender. Thin long bones. Compression fracture. Impaired vision. Loss of eyesight. Poor vision. Joint pain. Bruise easily. Easy bruisability.
Easy bruising. Delayed eruption. Delayed teeth eruption. Delayed tooth eruption. Eruption, delayed. Late eruption of teeth. Late tooth eruption. Poor swallowing. Swallowing difficulties. Swallowing difficulty. Flexed joint that cannot be straightened. Bowel obstruction. Intestinal blockage. Smaller or shorter than typical limbs. Kidney stones. Degenerative joint disease. Pins and needles feeling. Funnel chest. Relatively large head. Birth weight less than 10th percentile.
Low birth weight. Low platelet count. Face with broad temples and narrow chin. Triangular facial shape. Extra bones within cranial sutures. Tear in inner wall of large artery that carries blood away from heart. Bulge in wall of root of large artery that carries blood away from heart. Bleeding in brain. Rounded neck. Infantile respiratory distress.
Newborn respiratory distress. Respiratory distress, neonatal. Involuntary, rapid, rhythmic eye movements. Small lung. Underdeveloped lung. Disproportionately short upper portion of limb. Fluid-filled cyst in spinal cord.
Do you have more information about symptoms of this disease? Almost all infants with the severe type II OI are born into families without a family history of the condition. In the milder forms of OI, percent of cases occur as a result of new mutations. The other cases are inherited from a parent who has the condition. Whether a person has OI due to a new mutation or an inherited genetic change, an adult with the disorder can pass the condition down to future generations.
Rarely, OI can be inherited in an autosomal recessive pattern. Most often, the parents of a child with an autosomal recessive disorder are not affected but are carriers of one copy of the altered gene. Autosomal recessive inheritance means two copies of the gene must be altered for a person to be affected by the disorder. Genetics Home Reference: Osteogenesis imperfecta. Medline Plus: Osteogenesis Imperfecta. Medscape: Osteogenesis Imperfecta.
Medscape: Genetics of Osteogenesis Imperfecta. About Osteogenesis Imperfecta. What is Osteogenesis imperfecta? What are the symptoms of Osteogenesis imperfecta? How is Osteogenesis imperfecta diagnosed? Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.
Hum Mutat. In a consortium created in to study OI-causing mutations in type I collagen genes, 1, independent mutations were identified; resulted in the substitution of glycine residues in the triple helix domain of the encoded protein, and in splice sites.
Based on clinical, radiographic, and skeletal findings, mode of inheritance, and molecular genetic analyses, new OI types have been identified since through exome sequencing. The present study aimed to review the classification of OI and to update new related genes.
Due to considerable phenotypic variability, Sillence et al. Genetic heterogeneity in osteogenesis imperfecta. Sillence DO. Osteogenesis imperfect: an expanding panorama of variants.
Clin Ortop. The classification of Sillence has been repeatedly revised when new causative genes for OI are identified. The molecular genetic classification of OI has shown to be very heterogeneous, with different patterns of inheritance and wide variability of clinical severity. New genes in bone development: what's new in osteogenesis imperfecta. J Clin Endocrinol Metab. Glorieux et al.
Type V osteogenesis imperfecta: a new form of brittle bone disease. J Bone Miner Res. Am J Hum Genet. Only in were IFITM5 mutations identified in patients with type V OI, the gene encoding interferon-induced transmembrane protein 5, by sequencing of the entire exome.
Genotype-phenotype study in type V osteogenesis imperfecta. Clin Dysmorphol. The encoded protein has a role in early mineralization, but its mechanism remains unknown. Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.
N Engl J Med. According to the classification of Sillence et al. Osteogenesis imperfecta type VI: a form of brittle bone disease with a mineralization defect.
Cabral et al. Nature Genet. PPIB mutations cause severe osteogenesis imperfecta. There are no reports of dentinogenesis imperfecta. It can be caused by a homozygous mutation in the PPIB gene in chromosome 15q It is characterized by bone deformities and multiple fractures, generalized osteopenia, dentinogenesis imperfecta, and blue sclera. SERPINH1 encodes a collagen-binding protein that acts as a chaperone in the endoplasmic reticulum and thus, individuals with mutations in this gene have cells that do not produce overmodified type I collagen.
Patients with type OI type XI have severe progressive deformation and may have joint contractures.
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