Clinical and genetic profiles of 985 Chinese families with skeletal dysplasia

作者：Shanshan Li, Shanshan Lyu, Wen‐Zhen Fu, Yun-qiu Hu, Hua Yue, Lin Chen, Zhenlin Zhang · 发表于：Chinese Medical Journal · 年份：2023 · DOI：10.1097/cm9.0000000000002654 · 被引用次数：8 · 研究领域：Connective tissue disorders research、Genomics and Rare Diseases、Genetic factors in colorectal cancer

To the Editor:Skeletal dysplasia is a group of clinical and genetic heterogeneous disorders with primary involvement of the musculoskeletal system, including bone, cartilage, tendons, ligaments, and muscles, and is usually characterized by short stature, motion limitation, or fragility fractures, sometimes complicated with extra-skeletal phenotypes.[1] Due to the usually heterogeneous and nonspecific clinical manifestations of the disorder, identification of the pathogenic genes is crucial for patients to obtain an accurate molecular diagnosis, which not only provides explanations for patient phenotypes and ends lengthy diagnostic odysseys but also offers information concerning natural courses, specific therapies, genetic counseling for family members and prenatal diagnoses for at-risk fetuses. Genetic services have emerged in developing countries in the last decade of the twentieth century, and advances in studies concerning genetic disorders are changing the health care setting in China and the way clinicians think about the causes, diagnosis, and treatment of skeletal dysplasia.[2] However, a lack of comprehensive understanding of the clinical and genetic architecture of skeletal dysplasia in Chinese patients constrains further implementation of relevant genetic services into the health care system to a better position.[3] Additionally, there is currently no medical insurance coverage for genetic testing in China, and the tests are generally paid for by the patients themse...