Identification of a novel COL2A1 mutation (c.1744G>A) in a Japanese family: a case report

Journal of Medical Case Reports

Yasuyuki Ishibashi¹  Ken-Ichi Furukawa²  Hirotaka Ohishi¹  Yoshihide Nakamura¹  Masaki Kishiya¹ 

[1] Department of Orthopaedic Surgery, Hirosaki University Graduate School of Medicine, 5 Zaifu-cho, Hirosaki, Aomori 036-8562, Japan;Department of Pharmacology, Hirosaki University Graduate School of Medicine, 5 Zaifu-cho, Hirosaki, Aomori 036-8562, Japan

关键词: Skeletal dysplasia;    Avascular necrosis of the femoral head;    COL2A1 mutation;   

Others  :  1181076
DOI  :  10.1186/1752-1947-8-276

 received in 2013-12-11, accepted in 2014-04-28,  发布年份 2014

【 摘 要 】

Introduction

Mutations 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 presentation

A 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.

Conclusion

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

【 授权许可】

   
2014 Kishiya et al.; licensee BioMed Central Ltd.

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