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

Kishiya M, Nakamura Y, Ohishi H, Furukawa K, Ishibashi Y - J Med Case Rep (2014)

Bottom Line: Mutations in the gene encoding the type II collagen gene (COL2A1) have been found to affect the entire skeletal system.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.A novel COL2A1 mutation (c.1744G>A) was identified within one Japanese family.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Orthopaedic Surgery, Hirosaki University Graduate School of Medicine, 5 Zaifu-cho, Hirosaki, Aomori 036-8562, Japan. kishiya@isis.ocn.ne.jp.

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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Related in: MedlinePlus

Plain radiographic findings of the lumbar spine, shoulder and hand. AP and lateral radiographs of the spine (A) show the third lumbar anterior goniodialysis (white arrow and circle) while AP radiographs of the shoulder (B) and hand (C) reveal almost normal findings.
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Figure 5: Plain radiographic findings of the lumbar spine, shoulder and hand. AP and lateral radiographs of the spine (A) show the third lumbar anterior goniodialysis (white arrow and circle) while AP radiographs of the shoulder (B) and hand (C) reveal almost normal findings.

Mentions: A 27-year-old Japanese woman was admitted to a local hospital for treatment of a painful bilateral hip joint. Based on assessment of the radiological findings, she was diagnosed with AVN and referred to the study site for surgical management of her condition. The patient had no history of disease (for example, systemic lupus erythematosus (SLE) or human immunodeficiency virus (HIV)), alcohol abuse, steroid use, trauma or diving (causing dysbarism), and her laboratory findings were normal. However, as shown in her family pedigree, and her family clinical findings, more than three generations of her family have hip joint lesions: the proband (IV-1), her father (III-20) and her grandmother (II-9), II-1, 3, 5, III-3, 6, 11, 15 (Figure 1, Table 1). These findings suggest the presence of autosomal dominant inheritance with a high level of penetrance within this family (not shown).Although our patient’s radiological findings indicated osteonecrosis-like lesions of both femoral heads, the plain radiographic (Figure 2), magnetic resonance imaging (MRI) (Figure 3), and computed tomography (CT) (Figure 4) findings were negative for AVN induced by steroids and alcohol. Our patient’s anteroposterior (AP) radiographs of the other sites (knees, ankles, spine, hands, elbows) revealed almost normal findings (Figures 5 and6).


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

Kishiya M, Nakamura Y, Ohishi H, Furukawa K, Ishibashi Y - J Med Case Rep (2014)

Plain radiographic findings of the lumbar spine, shoulder and hand. AP and lateral radiographs of the spine (A) show the third lumbar anterior goniodialysis (white arrow and circle) while AP radiographs of the shoulder (B) and hand (C) reveal almost normal findings.
© Copyright Policy - open-access
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC4150419&req=5

Figure 5: Plain radiographic findings of the lumbar spine, shoulder and hand. AP and lateral radiographs of the spine (A) show the third lumbar anterior goniodialysis (white arrow and circle) while AP radiographs of the shoulder (B) and hand (C) reveal almost normal findings.
Mentions: A 27-year-old Japanese woman was admitted to a local hospital for treatment of a painful bilateral hip joint. Based on assessment of the radiological findings, she was diagnosed with AVN and referred to the study site for surgical management of her condition. The patient had no history of disease (for example, systemic lupus erythematosus (SLE) or human immunodeficiency virus (HIV)), alcohol abuse, steroid use, trauma or diving (causing dysbarism), and her laboratory findings were normal. However, as shown in her family pedigree, and her family clinical findings, more than three generations of her family have hip joint lesions: the proband (IV-1), her father (III-20) and her grandmother (II-9), II-1, 3, 5, III-3, 6, 11, 15 (Figure 1, Table 1). These findings suggest the presence of autosomal dominant inheritance with a high level of penetrance within this family (not shown).Although our patient’s radiological findings indicated osteonecrosis-like lesions of both femoral heads, the plain radiographic (Figure 2), magnetic resonance imaging (MRI) (Figure 3), and computed tomography (CT) (Figure 4) findings were negative for AVN induced by steroids and alcohol. Our patient’s anteroposterior (AP) radiographs of the other sites (knees, ankles, spine, hands, elbows) revealed almost normal findings (Figures 5 and6).

Bottom Line: Mutations in the gene encoding the type II collagen gene (COL2A1) have been found to affect the entire skeletal system.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.A novel COL2A1 mutation (c.1744G>A) was identified within one Japanese family.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Orthopaedic Surgery, Hirosaki University Graduate School of Medicine, 5 Zaifu-cho, Hirosaki, Aomori 036-8562, Japan. kishiya@isis.ocn.ne.jp.

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.

Show MeSH
Related in: MedlinePlus