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A novel mutation of COL2A1 in a large Chinese family with avascular necrosis of the femoral head.

ABSTRACT: Avascular necrosis of the femoral head (ANFH) is a debilitating bone disease, characterized by collapse of the femoral head and subsequent loss of hip joint function. Heterozygous mutations in COL2A1 have been identified to cause familial ANFH. Here we report on a large Chinese family with ANFH and a novel heterozygous mutation (c.3517 G > A, p.Gly1173Ser) in exon 50 of COL2A1 in the Gly-X-Y domain. Previously, only five different COL2A1 mutations have been described in patients with familial ANFH. Therefore, our findings provide significant clues to the phenotype-genotype relationships in familial ANFH and may be helpful in clinical diagnosis. Furthermore, these results should assist further studies of the mechanisms underlying collagen diseases.

SUBMITTER: Zhang Z

PROVIDER: S-EPMC8178877 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature

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A novel mutation of COL2A1 in a large Chinese family with avascular necrosis of the femoral head.

Zhang Zeng Z Zhu Kechao K Dai Huiyong H Wang Qi Q Zhang Changqing C Zhang Zhenlin Z

BMC medical genomics 20210604 1

Avascular necrosis of the femoral head (ANFH) is a debilitating bone disease, characterized by collapse of the femoral head and subsequent loss of hip joint function. Heterozygous mutations in COL2A1 have been identified to cause familial ANFH. Here we report on a large Chinese family with ANFH and a novel heterozygous mutation (c.3517 G > A, p.Gly1173Ser) in exon 50 of COL2A1 in the Gly-X-Y domain. Previously, only five different COL2A1 mutations have been described in patients with familial AN ...[more]

PMID: 34088323

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Project description:This study aimed to evaluate the relevant factors of postoperative avascular necrosis of the femoral head (AVN) in children with femoral neck fracture. This study retrospectively analyzed the clinical data of 28 children with femoral neck fractures treated at our center between July 2016 and January 2019. The average age was 9.3 (range, 4.4-14) years with 75% male participants. Fracture classification was based on the Delbet classification: there were four, seven, 15, and two cases of type I, II, III, and IV fractures, respectively. Displacement degree was based on the Garden classification. Sixteen cases had insignificant displacement (Garden types I and II), six had medium displacement (Garden type III), and six had significant displacement (Garden type IV). There were six early (≤24 hours) and 22 delayed (>24 hours) surgeries. Twenty-three patients had satisfactory reduction, and five had unsatisfactory reduction. The mean postoperative follow-up period was 15.7 (range, 12-36) months. Follow-up was evaluated using the Ratliff scoring standards. The correlation between age, fracture classification, displacement degree, surgery timing, reduction quality, and other factors and AVN occurrence was statistically analyzed. Among 28 children, AVN was found in six cases. There were statistically significant differences in displacement degree (P = 0.001) and reduction quality (P = 0.001), while the occurrence of AVN did not significantly differ with sex (P = 0.117), age distribution (P = 0.218), fracture classification (P = 0.438), surgery timing (P = 0.255), and mechanism of injury (P = 0.436). The results of logistic regression analysis showed that displacement degree was a relevant risk factor (P = 0.049, odds ratio [OR] = 8.391, 95% confidence interval [CI]: 1.004-70.117), while reduction quality was not (P = 0.075, OR = 14.536, 95% CI: 0.757-278.928). Although the development of AVN in children with femoral neck fractures may be related to many factors, the results of this research suggest that there is a significant correlation between displacement degree and AVN occurrence.

Project description:The current systematic review aimed to document published cases of femoral head avascular necrosis (FHAVN) post-COVID-19, to report the COVID-19 disease characteristics and management patients received, and to evaluate how the FHAVN were diagnosed and treated among various reports. A systematic literature review was performed per the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines through a comprehensive English literature search on January 2023 through four databases (Embase, PubMed, Cochrane Library, and Scopus), including studies reporting on FHAVN post-COVID-19. Fourteen articles were included, ten (71.4%) were case reports, and four (28.6%) case series reported on 104 patients having a mean age of 42.2 ± 11.7 (14:74) years, in which 182 hip joints were affected. In 13 reports, corticosteroids were used during the COVID-19 management plan for a mean of 24.8 ± 11 (7:42) days, with a mean prednisolone equivalent dose of 1238.5 ± 492.8 (100:3520) mg. A mean of 142.1 ± 107.6 (7:459) days passed between COVID-19 diagnosis and FHAVN detection, and most of the hips were stage II (70.1%), and concomitant septic arthritis was present in eight (4.4%) hips. Most hips (147, 80.8%) were treated non-surgically, of which 143 (78.6%) hips received medical treatment, while 35 (19.2%) hips were surgically managed, 16 (8.8%) core decompression, 13 (7.1%) primary THA, five (2.7%) staged THA and three (1.6%) had first stage THA (debridement and application of antibiotic-loaded cement spacer). The outcomes were acceptable as regards hip function and pain relief. Femoral head avascular necrosis post-COVID-19 infection is a real concern, primarily attributed to corticosteroid usage, besides other factors. Early suspicion and detection are mandatory, as conservative management lines are effective during early stages with acceptable outcomes. However, surgical intervention was required for progressive collapse or patients presented in the late stage.

Dataset Information

A novel mutation of COL2A1 in a large Chinese family with avascular necrosis of the femoral head.

Publications

A novel mutation of COL2A1 in a large Chinese family with avascular necrosis of the femoral head.

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