Liu Xiaoliang, Zhao Yanyan, Wang Hua, Li-Ling Jesse, Wu Lingqian, Lu Yanping, Chang Qingxian
Department of Clinical Genetics, Shengjing Hospital of China Medical University, Shenyang, Liaoning 110004, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Jun 10;41(6):651-660. doi: 10.3760/cma.j.cn511374-20240122-00062.
Dystrophinopathies caused by variants of DMD gene are a group of muscular diseases including Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy. With the advancement of genetic testing techniques and wider implementation of genetic screening, especially the expanded carrier screening, more and more individuals carrying DMD gene variants have been identified, whereas the genetic counseling capacity is relatively insufficient. Currently there is still a lack of professional norms for genetic counseling on dystrophinopathies. In this consensus, the main points to be covered in the pre- and post-test consultation have been discussed, with an aim to provide genetic counseling guidance for the disease diagnosis, treatment, and family reproduction.
由DMD基因变异引起的肌营养不良症是一组肌肉疾病,包括杜氏肌营养不良症、贝克肌营养不良症和DMD相关的扩张型心肌病。随着基因检测技术的进步和基因筛查的更广泛应用,尤其是扩大携带者筛查,越来越多携带DMD基因变异的个体被识别出来,而遗传咨询能力相对不足。目前,对于肌营养不良症的遗传咨询仍缺乏专业规范。在本共识中,讨论了检测前和检测后咨询应涵盖的要点,旨在为疾病的诊断、治疗和家庭生育提供遗传咨询指导。