Identification of a novel COL2A1 mutation c.1744G>A in a Japanese family: a case reportReportar como inadecuado

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Journal of Medical Case Reports

, 8:276

First Online: 14 August 2014Received: 11 December 2013Accepted: 28 April 2014DOI: 10.1186-1752-1947-8-276

Cite this article as: Kishiya, M., Nakamura, Y., Ohishi, H. et al. J Med Case Reports 2014 8: 276. doi:10.1186-1752-1947-8-276


IntroductionMutations in the gene encoding the type II collagen gene COL2A1 have been found to affect the entire skeletal system. Recently, inheritable skeletal dysplasia caused by novel COL2A1 mutations has been linked to an inherited disease of the hip joint that neither involves the entire skeletal system nor is characterized by the presence of concomitant disorders, such as spinal or ocular abnormalities.

Case presentationA 27-year-old Japanese woman previously diagnosed with avasucular necrosis AVN of the femoral head on the basis of radiological findings was referred to the study site for surgical management of a painful hip joint. She had no history of disease but suffered from bilateral hip joint lesions. Analysis of her pedigree revealed that bilateral hip joint lesions affected more than three generations of her family. Based on these findings, haplotype analysis of her and her family members was performed by examining select candidate genes from the critical interval for epiphyseal dysplasia of the femoral head on 12q13 and sequencing the promoter and exonic regions of COL2A1.

ConclusionA novel COL2A1 mutation c.1744G>A was identified within one Japanese family.

KeywordsCOL2A1 mutation Avascular necrosis of the femoral head Skeletal dysplasia AbbreviationsACG2Achondrogenesis type 2

AVNAvascular necrosis

COL2A1Collagen, type II, alpha 1

HIVHuman lummunodeficiency virus

LCPLegg-Calvé-Perthes disease


SEDCSpondyloepiphyseal dysplasia congenita

SEMDSpondyloepimetaphyseal dysplasia

SLESystemic lupus erythematosus

SNPSingle nucleic acid polymorphism.

Electronic supplementary materialThe online version of this article doi:10.1186-1752-1947-8-276 contains supplementary material, which is available to authorized users.

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Autor: Masaki Kishiya - Yoshihide Nakamura - Hirotaka Ohishi - Ken-Ichi Furukawa - Yasuyuki Ishibashi


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