Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1

American Journal of Medical Genetics

Volumn 129, Issue 2, 2004, Pages 144-148

  Zankl, Andreas ^a,c   Zabel, Bernhard ^b   Hilbert, Katja ^b   Wildhardt, Gabi ^b   Cuenot, Segoleine ^a   Xavier, Belinda ^a   Ha Vinh, Russia ^a   Bonafé, Luisa ^a   Spranger, Jürgen ^b   Superti Furga, Andrea ^a  

^a UNIVERSITY OF LAUSANNE   (Switzerland)

^b JOHANNES GUTENBERG UNIVERSITY   (Germany)

^c LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

Author keywords

Chondrodysplasia; Collagen; Collagenopathy

Indexed keywords

COLLAGEN TYPE 2; PROCOLLAGEN;

ARTICLE; BONE RADIOGRAPHY; BRACHYDACTYLY; CALCIFICATION; CASE REPORT; DYSPLASIA; FRAMESHIFT MUTATION; GENE; GENE COL2A1; GENE LOCATION; GENETIC CODE; GROWTH PLATE; HETEROZYGOSITY; HUMAN; METACARPAL BONE; MOLECULAR GENETICS; NEWBORN; PHALANX; PRIORITY JOURNAL; PROTEIN DOMAIN; SHORT STATURE; SPONDYLOPERIPHERAL DYSPLASIA;

GENETTA; OTHER SEQUENCES;

EID: 4344660043     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30222     Document Type: Article

References (18)

1. Ahmad NN, Dimascio J, Knowlton RG, Tasman WS. 1995. Stickler syndrome. A mutation in the nonhelical 3′ end of type II procollagen gene. Arch Ophthalmol 113(11):1454-1457.
2. Doyle SA, Smith BD. 1998. Role of the pro-alpha2(I) COOH-terminal region in assembly of type I collagen: Disruption of two intramolecular disulfide bonds in pro-alpha2(I) blocks assembly of type I collagen. J Cell Biochem 71(2):233-342.
3. Fernandes RJ, Seegmiller RE, Nelson WR, Eyre DR. 2003. Protein consequences of the Col2a1 C-propeptide mutation in the chondrodysplastic Dmm mouse. Matrix Biol 22(5):449-453.
4. Freddi S, Savarirayan R, Bateman JF. 2000. Molecular diagnosis of Stickler syndrome: A COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instability. Am J Med Genet 90(5):398-406.
5. Kelly TE, Lichtenstein JR, Dorst JP. 1977. An unusual familial spondyloepiphyseal dysplasia: "Spondyloperipheral dysplasia". Birth Defects Orig Artic Ser 13(3B):149-165.
6. Kielty CM, Grant ME. 2002. The collagen family: Structure, assembly, and organization in the extracellular matrix. In: Royce PM, Steinmann BU, editors. Connective tissue and its heritable disorders: Molecular, genetic, and medical aspects. New York: Wiley-Liss. pp 159-222.
7. Lees JF, Tasab M, Bulleid NJ. 1997. Identification of the molecular recognition sequence which determines the type-specific assembly of procollagen. Embo J 16(5):908-916.
8. Lim AL, Doyle SA, Balian G, Smith BD. 1998. Role of the pro- alpha2(I) COOH-terminal region in assembly of type I collagen: Truncation of the last 10 amino acid residues of pro-alpha2(I) chain prevents assembly of type I collagen heterotrimer. J Cell Biochem 71(2):216-232.
9. Pace JM, Li Y, Seegmiller RE, Teuscher C, Taylor BA, Olsen BR. 1997. Disproportionate micromelia (Dmm) in mice caused by a mutation in the C-propeptide coding region of Col2a1. Dev Dyn 208(1):25-33.
10. Poole AR, Rosenberg LC. 1986. Chondrocalcin and the calcification of cartilage. A review. Clin Orthop (208):114-118.
11. Schell T, Kulozik AE, Hentze MW. 2002. Integration of splicing, transport and translation to achieve mRNA quality control by the nonsense-mediated decay pathway. Genome Biol 3(3): REVIEWS 1006.
12. Sorge G, Ruggieri M, Lachman RS. 1995. Spondyloperipheral dysplasia. Am J Med Genet 59(2):139-142.
13. Spranger J, Winterpacht A, Zabel B. 1994. The type II collagenopathies: A spectrum of chondrodysplasias. Eur J Pediatr 153(2):56-65.
14. Sybert VP, Byers PH, Hall JG. 1979. Variable expression in a dominantly inherited skeletal dysplasia with similarities to brachydactyly E and spondyloepiphyseal-spondyloperipheral dysplasia. Clin Genet 15(2):160-166.
15. Van Der Hout AH, Verlind E, Beemer FA, Buys CH, Hofstra RM, Scheffer H. 2002. Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndrome. Hum Mutat 20(3):236.
16. Van der Rest M, Rosenberg LC, Olsen BR, Poole AR. 1986. Chondrocalcin is identical with the C-propeptide of type II procollagen. Biochem J 237(3):923-925.
17. Vanek J. 1983. Spondyloperipheral dysplasia. J Med Genet 20(2):117-121.
18. Zabel B, Hilbert K, Stoss H, Superti-Furga A, Spranger J, Winterpacht A. 1996. A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia. Am J Med Genet 63(1):123-128.