Genetic evaluation of suspected osteogenesis imperfecta (OI)

Genetics in Medicine

Volumn 8, Issue 6, 2006, Pages 383-388

  Byers, Peter H ^a   Krakow, Deborah ^b   Nunes, Mark E ^c   Pepin, Melanie ^a  

^a UNIVERSITY OF WASHINGTON   (United States)

^b CEDARS SINAI MEDICAL CENTER   (United States)

^c INOVA FAIRFAX HOSPITAL FOR CHILDREN   (United States)

Author keywords

Brittle bone disease; COL1A1; COL1A2; Laboratory testing; Non accidental injury; Osteogenesis imperfecta; Prenatal diagnosis; Type I collagen

Indexed keywords

COLLAGEN TYPE 1; PROCOLLAGEN;

AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; BONE DISEASE; CLINICAL EXAMINATION; DNA EXTRACTION; ECHOGRAPHY; FAMILY HISTORY; FETUS ECHOGRAPHY; FRACTURE; GENE MUTATION; GENETIC ANALYSIS; GENETIC RISK; GESTATIONAL AGE; HUMAN; HYPOPHOSPHATASIA; LABORATORY TEST; MICROMELIA; MUTATIONAL ANALYSIS; OSTEOGENESIS IMPERFECTA; PREGNANCY; REVIEW; SCLERA DISEASE; SHORT STATURE; TOOTH DEVELOPMENT; TOOTH DISEASE; ARTICLE; CONGENITAL MALFORMATION; DIAGNOSIS, MEASUREMENT AND ANALYSIS; DIFFERENTIAL DIAGNOSIS; FEMALE; GENETICS; INFANT; MALE; NEWBORN; PRACTICE GUIDELINE; PRESCHOOL CHILD; SCLERA; TOOTH MALFORMATION;

CHILD, PRESCHOOL; DENTINOGENESIS IMPERFECTA; DIAGNOSIS, DIFFERENTIAL; FEMALE; FRACTURES, BONE; HUMANS; INFANT; INFANT, NEWBORN; LABORATORY TECHNIQUES AND PROCEDURES; MALE; OSTEOGENESIS IMPERFECTA; PREGNANCY; SCLERA; SCLERAL DISEASES; ULTRASONOGRAPHY, PRENATAL;

EID: 33746913118     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.gim.0000223557.54670.aa     Document Type: Review

References (23)

1. Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 1979;16:101-116.
2. Byers PH, Cole WJ. Osteogenesis imperfecta. In: Royce P, Steinmann B, editors. Connective tissue and its heritable disorders: molecular, genetic and medical aspects. New York: Wylie-Liss, 1979:385-430.
3. Glorieux FH, Rauch F, Plotkin H, Ward L, et al. Type V osteogenesis imperfecta: a new form of brittle bone disease. J Bone Miner Res 2000;15:1650-1658.
4. Glorieux FH, Ward LM, Rauch F, Lalic L, et al. Osteogenesis imperfecta type VI: a form of brittle bone disease with a mineralization defect. J Bone Miner Res 2002;17:30-38.
5. Labuda M, Morissette J, Ward LM, Rauch F, et al. Osteogenesis imperfecta type VII maps to the short arm of chromosome 3. Bone 2002;31:19-25.
6. Pepin M, Atkinson M, Starman BJ, Byers PH. Strategies and outcomes of prenatal diagnosis for osteogenesis imperfecta: a review of biochemical and molecular studies completed in 129 pregnancies. Prenat Diagn 1997;17:559-570.
7. DiMaio MS, Barth R, Koprivnikar KE, Sussman BL, et al. First-trimester prenatal diagnosis of osteogenesis imperfecta type II by DNA analysis and sonography. Prenat Diagn 1993;13:589-596.
8. Sanders RC, Greyson-Fleg RT, Hogge WA, Blakemore KJ, et al. Osteogenesis imperfecta and campomelic dysplasia: difficulties in prenatal diagnosis. J Ultrasound Med 1994;13:691-700.
9. Paterson CR, McAllion SJ, Shaw JW. Clinical and radiological features of Osteogenesis imperfecta type IVA. Acta Peaediatr Scand 1987;76:548-552.
10. Steiner RD, Pepin M, Byers PH. Studies of collagen synthesis and structure in the differentiation of child abuse from osteogenesis imperfecta. J Pediatr 1996;128:542-547.
11. Marlowe A, Pepin MG, Byers PH. Testing for osteogenisis imperfecta in cases of suspected non-accidental injury. J Med Genet 2002;39:382-386.
12. Wenstrup RJ, Willing MC, Starman BJ, Byers PH. Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfecta. Am J Hum Genet 1990;46:975-982.
13. Korkko J, Ala-Kokko L, De Paepe A, Nuytinck L, et al. Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations. Am J Hum Genet 1998;62:98-110.
14. Hastbacka J, de la Chapelle A, Mahtani MM, Clines G, et al. The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. Cell 1994;78:1073-1087.
15. Chan D, Cole WG, Chow CW, Mundlos S, Bateman JF. A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage. J Biol Chem 1995;270:1747-1753.
16. Henthorn PS, Raducha M, Fedde KN, Lafferty MA, Whyte MP. Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia. Proc Natl Acad Sci U S A 1992;89:9924-9928.
17. Horton WA. Fibroblast growth factor receptor 3 and the human chondrodysplasias. Curr Opin Pediatr 1997;9:437-442.
18. Whyte MP, Obrecht SE, Finnegan PM, Jones JL, et al. Osteoprotegerin deficiency and juvenile Paget's disease. N Engl J Med 2002;347:175-184.
19. Bank RA, Robins SP, Wijmenga C, Breslau-Siderius LJ, et al. Defective collagen crosslinking in bone, but not in ligament or cartilage, in Bruck syndrome: indications for a bone-specific telopeptide lysyl hydroxylase on chromosome 17. Proc Natl Acad Sci U S A 1999;96:1054-1058.
20. van der Slot AJ, Zuurmond AM, Bardoel AF, Wijmenga C, et al. Identification of PLOD2 as telopeptide lysyl hydroxylase, an important enzyme in fibrosis. J Bio Chem 2003;278:40967-40972.
21. Ha-Vinh R, Alanay Y, Bank RA, Campos-Xavier AB, et al. Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2. Am J Med Genet 2004;131A:115-120.
22. Whyte MP. Carbonic anhydrase II deficiency. Clin Orthop Relat Res 1993;294:52-63.
23. ADHR Consortium. Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. Nat Genet 2000;26:345-348.