RESUMEN
OBJECTIVE@#To explore the genetic basis for a patient with Dilated cardiomyopathy.@*METHODS@#A patient admitted to Beijing Anzhen Hospital Affiliated to Capital Medical University in April 2022 was selected as the study subject. Clinical data and family history of the patient was collected. Targeted exome sequencing was carried out. Candidate variant was verified by Sanger sequencing and bioinformatic analysis based on guidelines of the American College of Medical Genetics and Genomics (ACMG).@*RESULTS@#DNA sequencing revealed that the patient has harbored a heterozygous c.5044dupG frameshift variant of the FLNC gene. Based on the ACMG guidelines, the variant was predicted to be likely pathogenic (PVS1+PM2_Supporting+PP4).@*CONCLUSION@#The heterozygous c.5044dupG variant of the FLNC gene probably underlay the pathogenesis in this patient, which has provided a basis for the genetic counseling for his family.
Asunto(s)
Humanos , Cardiomiopatía Dilatada/genética , Pruebas Genéticas , Asesoramiento Genético , Biología Computacional , Mutación del Sistema de Lectura , Mutación , FilaminasRESUMEN
The proposal to promote the commercialization of new insect-resistant GM cotton,GM corn and other major products in 13th Five Year Plan on National Science and Technology Innovation ,has put forward a test to the government's ability to manage GM crops cultivation.Only a few species of GM crops,not including food crops,have been commercialized in China,we lack experience in GM crops cultivation management.Taking USA,where the farmers cultivate huge areas of GM crops,as a comparison object,the examination and approval procedures before cultivation,GM crop growers' obligation of the management,the methods to reduce mingling of GM crops and non-GM crops are compared.And concludes that the differences in legal status of GM crops,the intellectual property regime and labeling regulation,the ability of relative stakeholders to implement segregation measures and bear loss lead to different regulation on GM crops cultivation management in USA and China.The government combine the domestic current situation of the agricultural environment in our country,and focus on substantial risk in the safety management of GM crops in cultivation management is advised.The competent department of agriculture,researchers and seed traders should work together to help guide growers to avoid the economic disputes due to mingling and reduce the impact on the ecological environment.