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01.12.2014 | Case report | Ausgabe 1/2014 Open Access

Journal of Medical Case Reports 1/2014

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

Zeitschrift:
Journal of Medical Case Reports > Ausgabe 1/2014
Autoren:
Masaki Kishiya, Yoshihide Nakamura, Hirotaka Ohishi, Ken-Ichi Furukawa, Yasuyuki Ishibashi
Wichtige Hinweise

Electronic supplementary material

The online version of this article (doi:10.​1186/​1752-1947-8-276) contains supplementary material, which is available to authorized users.

Competing interests

The authors declare that they have no competing interests.

Authors’ contributions

MK analyzed and interpreted the patient data regarding the skeletal dysplasia. YN, HO and KF were involved in reviewing the literature and proofreading the manuscript, and were major contributors in writing the manuscript. YN performed the final revisions of the manuscript. YI is the senior author and was responsible for final proofreading of the article. All authors read and approved the final manuscript.

Abstract

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.

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Zusatzmaterial
Authors’ original file for figure 1
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Authors’ original file for figure 7
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Authors’ original file for figure 8
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Authors’ original file for figure 9
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Literatur
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