Avascular Necrosis of the Femoral Head Due to a Novel C Propeptide Mutation in COL2A1

被引：28

作者：

Kannu, Peter ^{[1
,2
,3
]}

O'Rielly, D. D. ^{[2
]}

Hyland, J. C. ^{[4
]}

Kokko, L. Ala ^{[4
]}

机构：

[1] Queens Univ, Dept Paediat, Kingston, ON, Canada

[2] Queens Univ, Dept Pathol & Mol Med, Kingston, ON, Canada

[3] Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia

[4] Connect Tissue Gene Tests, Allentown, PA USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2011年 / 155A卷 / 07期

关键词：

EPIPHYSEAL DYSPLASIA; PHENOTYPIC SPECTRUM; GENE; GENOTYPE;

D O I：

10.1002/ajmg.a.34056

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：1759 / 1762

页数：4

共 13 条

[1] Sequence dependence of the folding of collagen-like peptides - Single amino acids affect the rate of triple-helix nucleation [J].

Ackerman, MS ;

Bhate, M ;

Shenoy, N ;

Beck, K ;

Ramshaw, JAM ;

Brodsky, B .

JOURNAL OF BIOLOGICAL CHEMISTRY, 1999, 274 (12) :7668-7673

[2] The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene [J].

Hoornaert, KP ;

Dewinter, C ;

Vereecke, I ;

Beemer, FA ;

Courtens, W ;

Fryer, A ;

Fryssira, H ;

Lees, M ;

Müllner-Eidenböck, A ;

Rimoin, DL ;

Siderius, L ;

Superti-Furga, A ;

Temple, K ;

Willems, PJ ;

Zankl, A ;

Zweier, C ;

De Paepe, A ;

Coucke, P ;

Mortier, GR .

JOURNAL OF MEDICAL GENETICS, 2006, 43 (05) :406-413

[3] Premature Arthritis Is a Distinct Type II Collagen Phenotype [J].

Kannu, Peter ;

Bateman, John F. ;

Randle, Susan ;

Cowie, Shannon ;

du Sart, Desiree ;

McGrath, Shaun ;

Edwards, Matthew ;

Savarirayan, Ravi .

ARTHRITIS AND RHEUMATISM, 2010, 62 (05) :1421-1430

[4] Employing Molecular Genetics of Chondrodysplasias to Inform the Study of Osteoarthritis [J].

Kannu, Peter ;

Bateman, John F. ;

Belluoccio, Daniele ;

Fosang, Amanda J. ;

Savarirayan, Ravi .

ARTHRITIS AND RHEUMATISM, 2009, 60 (02) :325-334

[5] Type II collagen gene variants and inherited osteonecrosis of the femoral head [J].

Liu, YF ;

Chen, WM ;

Lin, YF ;

Yang, RC ;

Lin, MW ;

Li, LH ;

Chang, YH ;

Jou, YS ;

Lin, PY ;

Su, JS ;

Huang, SF ;

Hsiao, KJ ;

Fann, CSJ ;

Hwang, HW ;

Chen, YT ;

Tsai, SF .

NEW ENGLAND JOURNAL OF MEDICINE, 2005, 352 (22) :2294-2301

[6] A recurrent mutation in type II collagen gene causes Legg-Calve-Perthes disease in a Japanese family [J].

Miyamoto, Yoshinari ;

Matsuda, Tatsuo ;

Kitoh, Hiroshi ;

Haga, Nobuhiko ;

Ohashi, Hirofumi ;

Nishimura, Gen ;

Ikegawa, Shiro .

HUMAN GENETICS, 2007, 121 (05) :625-629

[7] 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].

Mortier, GR ;

Weis, M ;

Nuytinck, L ;

King, LM ;

Wilkin, DJ ;

De Paepe, A ;

Lachman, RS ;

Rimoin, D ;

Eyre, DR ;

Cohn, DH .

JOURNAL OF MEDICAL GENETICS, 2000, 37 (04) :263-271

[8] The phenotypic spectrum of COL2A1 mutations [J].

Nishimura, G ;

Haga, N ;

Kitoh, H ;

Tanakal, Y ;

Sonoda, T ;

Kitamura, M ;

Shirahama, S ;

Roh, T ;

Nakashima, E ;

Ohashi, H ;

Ikegawa, S .

HUMAN MUTATION, 2005, 26 (01) :36-43

[9] Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule [J].

Richards, AJ ;

Morgan, J ;

Bearcroft, PWP ;

Pickering, E ;

Owen, MJ ;

Holmans, P ;

Williams, N ;

Tysoe, C ;

Pope, FM ;

Snead, MP ;

Hughes, H .

JOURNAL OF MEDICAL GENETICS, 2002, 39 (09) :661-665

[10] Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita [J].

Unger, S ;

Korkko, J ;

Krakow, D ;

Lachman, RS ;

Rimoin, DL ;

Cohn, DH .

AMERICAN JOURNAL OF MEDICAL GENETICS, 2001, 104 (02) :140-146

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