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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Cough is a common symptom of many respiratory diseases. Many medical literatures underline that a system for the automatic, objective, and reliable detection of cough events is important and very promising to detect pathology severity in chronic cough disease. In order to track the development status of an audio-based cough monitoring system, we briefly described the history of objective cough detection and then illustrated the cough sound generating principle. The probable endpoints of cough clinical studies, including cough frequency, intensity of coughing, and acoustic properties of cough sound, were analyzed in this paper. Finally, we introduce some successful cough monitoring equipment and their recognition algorithm in detail. It can be obtained that, firstly, acoustic variability of cough sounds within and between individuals makes it difficult to assess the intensity of coughing. Furthermore, now great progress in audio-based cough detection is being made. Moreover, accurate portable objective monitoring systems will be available and widely used in home care and clinical trials in the near future.

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The original version of this Article contained an error in the spelling of the author Laurence Faivre, which was incorrectly given as Laurence Faive. This has now been corrected in both the PDF and HTML versions of the Article.