Two novel COL2A1 mutations associated with a Legg-Calvé-Perthes disease-like presentation

Clinical Orthopaedics and Related Research

Volumn 469, Issue 6, 2011, Pages 1785-1790

  Kannu, Peter ^a,b   Irving, Melita ^c   Aftimos, Salim ^d   Savarirayan, Ravi ^b  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c ROYAL CHILDREN'S HOSPITAL   (Australia)

^d Northern Regional Genetics Service   (New Zealand)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 2;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CATARACT; CHILD; CLINICAL EXAMINATION; COL2A1 GENE; COLLAGEN DEFECT; DIFFERENTIAL DIAGNOSIS; DNA HELIX; FEMALE; FLATFOOT; GENE; GENETIC RISK; HIP DYSPLASIA; HUMAN; JOINT HYPERMOBILITY; LORDOSIS; MALE; MISSENSE MUTATION; MIXED HEARING LOSS; MUTATIONAL ANALYSIS; MYOPIA; NUCLEOTIDE SEQUENCE; OSTEOARTHRITIS; PELVIS RADIOGRAPHY; PERTHES DISEASE; PHENOTYPE; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGNOSIS; RANGE OF MOTION; VITREOUS DISEASE;

EID: 79959539807     PISSN: 0009921X     EISSN: 15281132     Source Type: Journal    
DOI: 10.1007/s11999-011-1850-x     Document Type: Article

References (19)

1. Ala-Kokko L, Baldwin CT, Moskowitz RW, Prockop DJ. Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia. Proc Natl Acad Sci USA. 1990;87:6565-6568.
2. Carlson KM, Yamaga KM, Reinker KA, Hsia YE, Carpenter C, Abe LM, Perry AK, Person DA, Marchuk DA, Raney EM. Precocious osteoarthritis in a family with recurrent COL2A1 mutation. J Rheumatol. 2006;33:1133-1136. (Pubitemid 43825465)
3. Freddi S, Savarirayan R, Bateman JF. Molecular diagnosis of Stickler syndrome: a COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instability. Am J Med Genet. 2000;90:398-406. (Pubitemid 30080639)
4. Giedion A, Prader A, Fliegel C, Krasikov N, Langer L, Poznanski A. Angel-shaped phalango-epiphyseal dysplasia (ASPED): identification of a new genetic bone marker. Am J Med Genet. 1993; 47:765-771. (Pubitemid 23291998)
5. Hoornaert KP, Marik I, Kozlowski K, Cole T, Le Merrer M, Leroy JG, Coucke PJ, Sillence D, Mortier GR. Czech dysplasia metatarsal type: another type II collagen disorder. Eur J Hum Genet. 2007;15:1269-1275. (Pubitemid 350143184)
6. Hoornaert KP, Vereecke I, Dewinter C, Rosenberg T, Beemer FA, Leroy JG, Bendix L, Bjorck E, Bonduelle M, Boute O, Cormier-Daire V, De Die-Smulders C, Dieux-Coeslier A, Dollfus H, Elting M, Green A, Guerci VI, Hennekam RC, Hilhorts-Hofstee Y, Holder M, Hoyng C, Jones KJ, Josifova D, Kaitila I, Kjaergaard S, Kroes YH, Lagerstedt K, Lees M, Lemerrer M, Magnani C, Marcelis C, Martorell L, Mathieu M, McEntagart M, Mendicino A, Morton J, Orazio G, Paquis V, Reish O, Simola KO, Smithson SF, Temple KI, Van Aken E, Van Bever Y, van den Ende J, Van Hagen JM, Zelante L, Zordania R, De Paepe A, Leroy BP, De Buyzere M, Coucke PJ, Mortier GR. Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. Eur J Hum Genet. 2010;18:872-880.
7. Kannu P, Bateman JF, Belluoccio D, Fosang AJ, Savarirayan R. Employing molecular genetics of chondrodysplasias to inform the study of osteoarthritis. Arthritis Rheum. 2009;60:325-334.
8. Kannu P, Bateman JF, Randle S, Cowie S, du Sart D, McGrath S, Edwards M, Savarirayan R. Premature arthritis is a distinct type II collagen phenotype. Arthritis Rheum. 2010;62:1421-1430.
9. Kannu P, Oei P, Slater HR, Khammy O, Aftimos S. Epiphyseal dysplasia and other skeletal anomalies in a patient with the 6p25 microdeletion syndrome. Am J Med Genet A. 2006;140:1955-1959. (Pubitemid 44380085)
10. Kenet G, Ezra E, Wientroub S, Steinberg DM, Rosenberg N, Waldman D, Hayek S. Perthes' disease and the search for genetic associations: collagen mutations, Gaucher's disease and thrombophilia. J Bone Joint Surg Br. 2008;90:1507-1511.
11. Kozlowski K, Marik I, Marikova O, Zemkova D, Kuklik M. Czech dysplasia metatarsal type. Am J Med Genet A. 2004; 129A:87-91.
12. 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 CS, Hwang HW, Chen YT, Tsai SF. Type II collagen gene variants and inherited osteonecrosis of the femoral head. N Engl J Med. 2005;352:2294-2301. (Pubitemid 40740553)
13. Miyamoto Y, Matsuda T, Kitoh H, Haga N, Ohashi H, Nishimura G, Ikegawa S. A recurrent mutation in type II collagen gene causes Legg-Calve-Perthes disease in a Japanese family. Hum Genet. 2007;121:625-629. (Pubitemid 46706073)
14. Rozen S, Skaletsky HJ. Primer3 on the WWW for general users and for biologist programmers. In: Krawetz S, Misener S, eds. Bioinformatics Methods and Protocols: Methods in Molecular Biology. Totowa, NJ: Humana Press; 2000:365-386. Source code available at: http://fokker.wi.mit.edu/primer3/. Accessed February 17, 2011.
15. Stenson PD, Mort M, Ball EV, Howells K, Phillips AD, Thomas NS, Cooper DN. The Human Gene Mutation Database: 2008 update. Genome Med. 2009;1:13.
16. Su P, Li R, Liu S, Zhou Y, Wang X, Patil N, Mow CS, Mason JC, Huang D, Wang Y. Age at onset-dependent presentations of premature hip osteoarthritis, avascular necrosis of the femoral head, or Legg-Calve-Perthes disease in a single family, consequent upon a p.Gly1170Ser mutation of COL2A1. Arthritis Rheum. 2008;58:1701-1706. (Pubitemid 351847523)
17. Su P, Zhang L, Peng Y, Liang A, Du K, Huang D. A histological and ultrastructural study of femoral head cartilage in a new type II collagenopathy. Int Orthop. 2010;34:1333-1339.
18. The Human Gene Mutation Database at the Institute of Medical Genetics in Cardiff. Available at: www.hgmd.org. Accessed February 17, 2011.
19. Tzschach A, Tinschert S, Kaminsky E, Lusga E, Mundlos S, Graul-Neumann LM. Czech dysplasia: report of a large family and further delineation of the phenotype. Am J Med Genet A. 2008;146A:1859-1864. (Pubitemid 352000727)