Novel COL2A1 mutations causing spondyloepiphyseal dysplasia congenita in three unrelated Chinese families

Author:

Liu Limin,Pang QianQian,Jiang Yan,Li Mei,Wang Ou,Xia Weibo

Publisher

Springer Science and Business Media LLC

Subject

Orthopedics and Sports Medicine,Surgery

Reference21 articles.

1. Spranger JW, Wiedemann HR (1966) Dysplasia spondyloepiphysaria congenita. Helv Paediatr Acta 21:598

2. Anderson IJ, Goldberg RB, Marion RW, Upholt WB, Tsipouras P (1990) Spondyloepiphyseal dysplasia congenita: genetic linkage to type II Collagen (COL2A1). Am J Hum Genet 46:896–901

3. Steplewski A, Ito H, Rucker E, Brittingham RJ, Alabyeva T, Gandhi M, Ko FK, Birk DE, Jimenez SA, Fertala A (2004) Position of single amino acid substitutions in the collagen triple helix determines their effect on structure of collagen fibrils. J Struct Biol 148:326–337

4. Freisinger P, Ala-Kokko L, LeGuellec D, Franc S, Bouvier R, Ritvaniemi P, Prockop DJ, Bonaventure J (1994) Mutation in the COL2A1 gene in a patient with hypochondrogenesis. Expression of mutated COL2A1 gene is accompanied by expression of genes for type I procollagen in chondrocytes. J Biol Chem 269:13663–13669

5. Xu LL, Qiu XS, Zhu ZZ, Yi L, Qiu Y (2014) A novel mutation in COL2A1 leading to spondyloepiphyseal dysplasia congenita in a three-generation family. Eur Spine J 23(Suppl 2):S271–S277

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