A first familial G504S mutation of COL2A1 gene results in distinctive spondyloepiphyseal dysplasia congenita

Clinica Chimica Acta

Volumn 382, Issue 1-2, 2007, Pages 148-150

  Xia, Xinyi ^a   Cui, Yingxia ^a   Huang, Yufeng ^a   Pan, Lianjun ^a   Wu, Yongming ^a   Zhang, Pingping ^a   Jin, Baofang ^a  

^a JINLING HOSPITAL   (China)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 2;

ADOLESCENT; ADULT; AUTOSOMAL DOMINANT INHERITANCE; BONE MALFORMATION; CHROMOSOME MARKER; CLINICAL ARTICLE; COLLAGEN TYPE 2 ALPHA 1 GENE; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; FAMILIAL DISEASE; FEMALE; GENE; GENE MAPPING; GENOTYPE; HAPLOTYPE; HETEROZYGOTE; HUMAN; INFANT; LETTER; MALE; MOLECULAR MECHANICS; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; SPONDYLOEPIPHYSEAL DYSPLASIA;

ADOLESCENT; ADULT; COLLAGEN TYPE II; FEMALE; FEMUR HEAD; FEMUR NECK; HUMANS; INFANT; MALE; MIDDLE AGED; OSTEOCHONDRODYSPLASIAS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 34249101894     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2007.04.005     Document Type: Letter

References (17)

1. Mortier G.R., Weis M., Nuytinck L., et al. Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder. J Med Genet 37 (2000) 263-271
2. Korkko J., Cohn D.H., Ala-Kokko L., Krakow D., and Prockop D.J. Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis. Am J Med Genet 9 (2000) 95-100
3. Bonaventure J., Cohen-Solal L., Ritvaniemi P., et al. Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: analysis of genotype-phenotype relationships. Biochem J 307 (1995) 823-830
4. Nishimura G., Haga N., Kitoh H., et al. The phenotypic spectrum of COL2A1 mutations. Hum Mutat 26 (2005) 36-43
5. Ritvaniemi P., Sokolov B.P., Williams C.J., et al. A single base mutation in the type II procollagen gene (COL2A1) that converts glycine alpha 1-247 to serine in a family with late-onset spondyloepiphyseal dysplasia. Hum Mutat 3 (1994) 261-267
6. Winterpacht A., Hilbert K., Schwarze U., and Zabel B. Non-radioactive multiplex-SSCP analysis: detection of a new type II procollagen gene (COL2A1) mutation. Hum Genet 95 (1995) 437-439
7. Walter K., Tansek M., Tobias E.S., et al. COL2A1-related skeletal dysplasias with predominant metaphyseal involvement. Am J Med Genet A 143 (2007) 161-167
8. Amirfeyz R., Taylor A., Smithson S.F., and Gargan M.F. Orthopaedic manifestations and management of spondyloepimetaphyseal dysplasia Strudwick type. J Pediatr Orthop B 15 (2006) 41-44
9. Miyamoto Y., Nakashima E., Hiraoka H., Ohashi H., and Ikegawa S. A type II collagen mutation also results in oto-spondylo-megaepiphyseal dysplasia. Hum Genet 118 (2005) 175-178
10. Tysoe C., Saunders J., White L., et al. A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasia. QJM 96 (2003) 663-671
11. Williams C.J., Rock M., Considine E., et al. Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519 Cys base substitution using conformation sensitive gel electrophoresis. Hum Mol Genet 4 (1995) 309-312
12. Liu Y.F., Chen W.M., Lin Y.F., et al. Type II collagen gene variants and inherited osteonecrosis of the femoral head. N Engl J Med 352 (2005) 2294-2301
13. Brautigam S., Kujat A., Kirst P., Seidel J., Luleyap H.U., and Froster U.G. DHPLC mutation analysis of phenylketonuria. Mol Genet Metab 78 (2003) 205-210
14. Horton W.A., Machado M.A., Ellard J., et al. Characterization of a type II collagen gene (COL2A1) mutation identified in cultured chondrocytes from human hypochondrogenesis. Proc Natl Acad Sci U S A 89 (1992) 4583-4587
15. Cole W.G., Hall R.K., and Rogers J.G. The clinical features of spondyloepiphyseal dysplasia congenita resulting from the substitution of glycine 997 by serine in the alpha 1(II) chain of type II collagen. J Med Genet 30 (1993) 27-35
16. Chan D., Cole W.G., Chow C.W., Mundlos S., and Bateman J.F. 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 270 (1995) 1747-1753
17. Murphy B.C., Scriver C.R., and Singh S.M. CpG methylation accounts for a recurrent mutation (c.1222C > T) in the human PAH gene. Hum Mutat 27 (2006) 975