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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Metal block augmentation, which is used for the treatment of tibial bone defects in total knee arthroplasty, with high stiffness will cause significant alteration in stress distribution, and its solid structure is not suitable for osseointegration. This study aimed to design a porous block to reduce weight, promote bone ingrowth, and improve its biomechanical performance. The metal block augmentation technique was applied to finite element models of tibial bone defects. Minimum compliance topology optimization subject to volume fraction combined with the porous architecture was adopted to redesign the block. Biomechanical changes compared with the original block were analyzed by finite element analysis. The stress distribution of the block and proximal tibia was recorded. The strain energy density of the proximal tibia was obtained. The newly designed block realized 40% weight reduction. The maximum stress in the optimized block decreased by 11.6% when compared with the solid one. The maximum stress of the proximal tibia in the optimized group increased by 18.6%. The stress of the anterior, medial, and posterior parts of the proximal medial tibia in the optimized group was significantly greater than that in the original group (all p < 0.05). The optimized block could effectively improve the biomechanical performance between the block and the bone. The presented method might provide a reference for the design of customized three-dimensional printed prostheses.

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