Lethal/severe osteogenesis imperfecta in a large family: A Novel Homozygous LEPRE1 Mutation and Bone Histological Findings

Pediatric and Developmental Pathology

Volumn 14, Issue 3, 2011, Pages 228-234

  Van Dijk, Fleur S ^a   Nikkels, Peter G J ^b   Den Hollander, Nicolette S ^c   Nesbitt, Isabel M ^d   Van Rijn, Rick R ^e   Cobben, Jan M ^e   Pals, Gerard ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^d SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^e ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

Collagen type I; CRTAP; Histology; LEPRE1; Osteogenesis imperfecta; PPIB

Indexed keywords

CARTILAGE ASSOCIATED PROTEIN; COL1A1 PROTEIN; LEPRE1 PROTEIN; MEMBRANE PROTEIN; PPIB PROTEIN; PROLYL 3 HYDROXYLASE 1; UNCLASSIFIED DRUG; LEPRE1 PROTEIN, HUMAN; PROTEOGLYCAN;

ARTICLE; CLINICAL ARTICLE; DISEASE SEVERITY; FAMILY HISTORY; FEMALE; GENE MUTATION; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; IMAGE ANALYSIS; OSTEOGENESIS IMPERFECTA; PRIORITY JOURNAL; TURKEY (REPUBLIC); BONE; CASE REPORT; FAMILY; GENETICS; MALE; MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

BONE AND BONES; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; HUMANS; INFANT, NEWBORN; MALE; MEMBRANE GLYCOPROTEINS; MUTATION; OSTEOGENESIS IMPERFECTA; PEDIGREE; PROTEOGLYCANS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; TURKEY;

EID: 80054025010     PISSN: 10935266     EISSN: 16155742     Source Type: Journal    
DOI: 10.2350/10-03-0806-CR.1     Document Type: Article

References (15)

1. van Dijk FS, Pals G, van Rijn RR, Nikkels PGJ, Cobben JM. Classification of osteogenesis imperfecta revisited. Eur J Med Genet 2009;53:1-5.
2. Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 1979;16:101-116. (Pubitemid 9164903)
3. Byers PH, Tsipouras P, Bonadio JF, et al. Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen. Am J Hum Genet 1988;42:237-248.
4. Rauch F, Glorieux FH. Osteogenesis imperfecta. Lancet 2004;363:1377-1385. (Pubitemid 38529880)
5. Cabral WA, Chang W, Barnes AM, et al. Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta. Nat Genet 2007;39:359-365. (Pubitemid 46328489)
6. Morello R, Bertin TK, Chen Y, et al. CRTAP is required for prolyl 3-hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell 2006;127:291-304. (Pubitemid 44604299)
7. Barnes AM, Chang W, Morello R, et al. Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta. N Engl J Med 2006;355:2757-2764. (Pubitemid 46021513)
8. van Dijk FS, Nesbitt IM, Zwikstra EH, et al. PPIB mutations cause severe osteogenesis imperfecta. Am J Hum Genet 2010;85:521-527.
9. Pyott SM, Schwarze U, Christiansen HE, et al. Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes. Hum Mol Gen. 2011;20:1595-1609.
10. Barnes AM, Carter EM, Cabral WA, et al. Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding. N Engl J Med 2010;362:521-528.
11. Ishikawa Y, Wirz J, Vranka JA, et al. Biochemical characterization of the prolyl 3-hydroxylase 1, cartilage associated protein, cyclophilin B complex. J Biol Chem 2009;284:17641-17647.
12. van Dijk FS, Nesbitt IM, Nikkels PGJ, et al. CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis. Eur J Hum Genet 2009;17:1560-1569.
13. Karlsson C, Thomemo M, Henriksson HB, Lindahl A. Identification of a stem cell niche in the zone of Ranvier within the knee joint. J Anat 2009;215:355-363.
14. Sillence D, Barlow K, Garber A, Hall J, Rimoin D. Osteogenesis imperfecta type II delineation of the phenotype with reference to genetic heterogeneity. Am J Med Genet 1984;17:407-423. (Pubitemid 14189142)
15. Chang W, Barnes AM, Cabral WA, Bodurtha JN, Marini JC. Prolyl 3-hydroxase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex. Hum Mol Genet 2010;19:223-234.