Wormian bones in osteogenesis imperfecta: Correlation to clinical findings and genotype

American Journal of Medical Genetics, Part A

Volumn 152, Issue 7, 2010, Pages 1681-1687

  Semler, Oliver ^a,b   Cheung, Moira S ^a   Glorieux, Francis H ^a   Rauch, Frank ^a  

^a MCGILL UNIVERSITY   (Canada)

^b UNIVERSITY OF COLOGNE   (Germany)

Author keywords

Collagen type I; Cranial abnormalities; Osteogenesis imperfecta; Phenotype Genotype correlation; Wormian bones

Indexed keywords

GLYCINE; ALPHA 2(I) COLLAGEN; COLLAGEN; COLLAGEN TYPE 1; COLLAGEN TYPE I, ALPHA 1 CHAIN;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CLINICAL FEATURE; COL1A1 GENE; COL1A2 GENE; DISEASE SEVERITY; FEMALE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MUTATOR GENE; NEWBORN; NUCLEOTIDE SEQUENCE; OSTEOGENESIS IMPERFECTA; OSTEOGENESIS IMPERFECTA TYPE 1; OSTEOGENESIS IMPERFECTA TYPE 3; OSTEOGENESIS IMPERFECTA TYPE 4; OSTEOGENESIS IMPERFECTA TYPE 5; OSTEOGENESIS IMPERFECTA TYPE 6; OSTEOGENESIS IMPERFECTA TYPE 7; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; RADIODIAGNOSIS; SCHOOL CHILD; SKULL DEFECT; SKULL RADIOGRAPHY; WORMIAN BONE; GENETICS; GENOTYPE; LONGITUDINAL STUDY; MIDDLE AGED; PATHOLOGY; RADIOGRAPHY; SKULL; STATISTICAL MODEL; YOUNG ADULT;

WORMIA;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; COLLAGEN; COLLAGEN TYPE I; FEMALE; GENOTYPE; HUMANS; INFANT; LOGISTIC MODELS; LONGITUDINAL STUDIES; MALE; MIDDLE AGED; OSTEOGENESIS IMPERFECTA; SKULL; YOUNG ADULT;

EID: 77954118579     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33448     Document Type: Article

References (15)

1. Byers PH. 2000. Collagens: Building blocks at the end of the development line. Clin Genet 58:270-279.
2. Byers PH. 2002. Killing the messenger: New insights into nonsensemediated mRNA decay. J Clin Invest 109:3-6.
3. Cremin B, Goodman H, Spranger J, Beighton P. 1982. Wormian bones in osteogenesis imperfecta and other disorders. Skeletal Radiol 8: 35-38.
4. Korkko J, Ala-Kokko L, De Paepe A, Nuytinck L, Earley J, Prockop DJ. 1998. 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 62:98-110.
5. Kovero O, Pynnonen S, Kuurila-Svahn K, Kaitila I, Waltimo-Siren J. 2006. Skull base abnormalities in osteogenesis imperfecta: A cephalometric evaluation of 54 patients and 108 control volunteers. J Neurosurg 105:361-370.
6. Marini JC, Forlino A, Cabral WA, Barnes AM, San Antonio JD, Milgrom S, Hyland JC, Korkko J, Prockop DJ, De Paepe A, Coucke P, Symoens S, Glorieux FH, Roughley PJ, Lund AM, Kuurila- Svahn K, Hartikka H, Cohn DH, Krakow D, Mottes M, Schwarze U, Chen D, Yang K, Kuslich C, Troendle J, Dalgleish R, Byers PH. 2007. 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 28:209-221.
7. Morello R, Bertin TK, Chen Y, Hicks J, Tonachini L, Monticone M, Castagnola P, Rauch F, Glorieux FH, Vranka J, Bachinger HP, Pace JM, Schwarze U, Byers PH, Weis M, Fernandes RJ, Eyre DR, Yao Z, Boyce BF, Lee B. 2006. CRTAPis required for prolyl 3-hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell 127:291-304.
8. Ogden CL, Kuczmarski RJ, Flegal KM, Mei Z, Guo S, Wei R, Grummer-Strawn LM, Curtin LR, Roche AF, Johnson CL. 2002. Centers for Disease Control and Prevention 2000 growth charts for the United States: Improvements to the 1977 National Center for Health Statistics version. Pediatrics 109:45-60.
9. O'Loughlin VD. 2004. Effects of different kinds of cranial deformation on the incidence of wormian bones. Am J Phys Anthropol 123:146-155.
10. Paterson CR, McAllion SJ. 2006. Classical osteogenesis imperfecta and allegations of nonaccidental injury. Clin Orthop Relat Res 452:260-264.
11. Rauch F, Glorieux FH. 2004. Osteogenesis imperfecta. Lancet 363:1377-1385.
12. Salle BL, Braillon P, Glorieux FH, Brunet J, Cavero E, Meunier PJ. 1992. Lumbar bone mineral content measured by dual energy X-ray absorptiometry in newborns and infants. Acta Paediatr 81:953-958. (Pubitemid 23044765)
13. Sanchez-Lara PA, Graham JM, Jr., Hing AV, Lee J, Cunningham M. 2007. The morphogenesis of wormian bones: A study of craniosynostosis and purposeful cranial deformation. Am J Med Genet Part A 143A:3243-3251.
14. Van Dijk FS, Nesbitt IM, Nikkels PG, Dalton A, Bongers EM, van de Kamp JM, Hilhorst-Hofstee Y, Den Hollander NS, Lachmeijer AM, Marcelis CL, Tan-Sindhunata GM, van Rijn RR, Meijers-Heijboer H, Cobben JM, Pals G. 2009. CRTAP mutations in lethal and severe osteogenesis imperfecta: The importance of combining biochemical and molecular genetic analysis. Eur J Hum Genet. 17:1560-1569.
15. Ward LM, Rauch F, Travers R, Chabot G, Azouz EM, Lalic L, Roughley PJ, Glorieux FH. 2002. Osteogenesis imperfecta type VII: An autosomal recessive form of brittle bone disease. Bone 31:12-18. (Pubitemid 34754419)