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

Kishiya, Masaki; Nakamura, Yoshihide; Ohishi, Hirotaka; Furukawa, Ken‐Ichi; Ishibashi, Yasuyuki

doi:10.1186/1752-1947-8-276

Cited by 10 publications

(11 citation statements)

References 6 publications

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“…P.Gly1170Ser was subsequently found in two Chinese families in 2014 and 2018 . Moreover, p.Gly582Ser was identified in patients with ANFH …”

Section: Resultsmentioning

confidence: 97%

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Integrated analysis of COL2A1 variant data and classification of type II collagenopathies

Zhang

et al. 2019

Clinical Genetics

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The COL2A1 gene encodes the alpha‐1 chain of type II procollagen. Type II collagen, comprised of three identical alpha‐1 chains, is the major component of cartilage. COL2A1 gene variants are the etiologies of genetic diseases, termed type II collagenopathies, with a wide spectrum of clinical presentations. To date, at least 460 distinct COL2A1 mutations, identified in 663 independent probands, and 21 definite disorders have been reported. Nevertheless, a well‐defined genotype‐phenotype correlation has not been established, and few hot spots of mutation have been reported. In this study, we analyzed data of COL2A1 variants and clinical information of patients obtained from the Leiden Open Variation Database 3.0, as well as the currently available relevant literature. We determined the characteristics of the COL2A1 variants and distributions of the clinical manifestations in patients, and identified four likely genotype‐phenotype correlations. Moreover, we classified 21 COL2A1‐related disorders into five categories, which may assist clinicians in understanding the essence of these complex phenotypes and prompt genetic screening in clinical practice.

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“…P.Gly1170Ser was subsequently found in two Chinese families in 2014 and 2018 . Moreover, p.Gly582Ser was identified in patients with ANFH …”

Section: Resultsmentioning

confidence: 97%

“…47,95 Moreover, p.Gly582Ser was identified in patients with ANFH. 96 Legg-Calve-Perthes disease (LCPD; MIM #150600) is a form of ANFH in children; its peak incidence occurs between the ages of 4 and 8 years. The average age of five cases of LCPD was 6.15 years old.…”

Section: Types Mainly Involved In Long Bone and Joint Disordersmentioning

confidence: 99%

Integrated analysis of COL2A1 variant data and classification of type II collagenopathies

Zhang

et al. 2019

Clinical Genetics

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“…There is an interesting report on one family with hip disorders. 18 In this family, multiple family members including the proband had initially been diagnosed as idiopathic ONFH. However, careful observations for imaging findings led correct diagnosis of the proband as not idiopathic ONFH but epiphyseal dysplasia, and COL2A1 mutation was identified eventually.…”

Section: Discussionmentioning

confidence: 97%

“…Thus, if we encounter the family in which multiple members are affected by hip disorders, we should suspect the possibility of skeletal dysplasia first. There is an interesting report on one family with hip disorders . In this family, multiple family members including the proband had initially been diagnosed as idiopathic ONFH.…”

Section: Discussionmentioning

confidence: 99%

Screening of the COL2A1 mutation in idiopathic osteonecrosis of the femoral head

Sakamoto

Yamamoto

Miyake

et al. 2016

Journal Orthopaedic Research

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Idiopathic osteonecrosis of the femoral head (idiopathic ONFH) is an ischemic disorder resulting in necrosis of the subchondral bone of the femoral head. COL2A1 mutations, including c.3508G>A, have been reported to be involved in its etiology. However, the etiological role of COL2A1 mutations in idiopathic ONFH remains controversial, because the pathology of idiopathic ONFH is ischemic necrosis, not epiphyseal dysplasia usually seen in the diseases caused by COL2A1 mutations. The purpose of this study is to examine whether COL2A1 mutations have causal relation with idiopathic ONFH or not. We recruited 1,451 Japanese patients with idiopathic ONFH, including steroid-, alcohol-, and neither steroid nor alcohol-associated (neither-associated) ONFH. The diagnosis was based on the criteria of the Japanese Research Committee on idiopathic ONFH of the Ministry of Health, Labour and Welfare. By whole-exome sequencing, entire COL2A1 coding regions and flanking introns were analyzed in 49 neither-associated ONFH patients. In addition, the c.3508G>A mutation of COL2A1 was checked in all idiopathic ONFH patients using the invader assay. Whole-exome sequencing did not detect any COL2A1 mutations in the 49 patients. The c.3508G>A mutation was not found in any of the 1,451 patients. In conclusion, COL2A1 is unlikely to cause idiopathic ONFH. Epiphyseal dysplasia of the femoral head caused by COL2A1 mutations may radiographically mimic idiopathic ONFH. COL2A1 mutations should prompt clinical re-evaluation of the patient's phenotype. © 2016 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 35:768-774, 2017.

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“…However, in the present study, no similar mutations were detected in one of the family members (subject II-1), which strongly indicates that acquired factors may have an irreversible role in the pathogenesis of ANFH. Additionally, it was reported that a c.4148G>A ( 18 ) or c.1774G>A mutations ( 19 ) in the COL2A1 gene may also lead to familial ANFH. Notably, evidence from clinical studies has demonstrated that a single base substitution in the COL2A1 gene is also implicated in the development of LCPD ( 8 , 14 , 25 ) and premature hip OA, which are two other types of type II collagenopathies ( 16 , 27 ).…”

Section: Discussionmentioning

confidence: 99%

COL2A1 mutation (c.3508G>A) leads to avascular necrosis of the femoral head in a Chinese family: A case report

et al. 2018

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Avascular necrosis of the femoral head (ANFH) is a consequence of ischemia. Although the majority of cases of ANFH are sporadic, certain familial cases of ANFH have been reported to be associated with collagen type II α1 chain (COL2A1) mutations, which lead to COL2A1 gene dysfunction. The structure of secreted type II collagen contains a core area with a triple helical glycine (Gly)-X-Y domain, and the replacement of Gly in this region as a result of COL2A1 mutations may damage the structure of type II collagen. In the present study, a Chinese family with ANFH was recruited and genetic analysis was conducted to determine whether COL2A1 mutations were implicated in this familial ANFH. A three-generation family containing 31 members, as well as 20 patients with sporadic ANFH, were recruited for investigation. The diagnosis was performed by independent surgeons and radiologists according to internationally recognized criteria. In the present study, a heterozygous c.3508G>A mutation in exon 50 of the COL2A1 gene was identified, which results in the substitution of Gly with serine at codon 1,170. Furthermore, genetic pedigree analysis indicated that this mutation was inherited in an autosomal dominant manner. The present study revealed that a heterozygous c.3508G>A mutation in the COL2A1 gene was involved in ANFH development in one Chinese family. Therefore, it is proposed that individuals who carry this c.3508G>A mutation in the COL2A1 gene should receive genetic counseling and early intervention for ANFH.

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

Cited by 10 publications

References 6 publications

Integrated analysis of COL2A1 variant data and classification of type II collagenopathies

Integrated analysis of COL2A1 variant data and classification of type II collagenopathies

Screening of the COL2A1 mutation in idiopathic osteonecrosis of the femoral head

COL2A1 mutation (c.3508G>A) leads to avascular necrosis of the femoral head in a Chinese family: A case report

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