A Novel Mutation Of FBN1 Gene In Marfan Syndrome Family

Background of study:Marfan syndrome is an autosomal dominant hereditary disease with connective tissue as its basic defect.The lesions mainly involved the three major systems of skeletal,cardiovascular and the ocular.Aortic aneurysm and aortic dissection are the main causes of death in patients with Marfan’s syndrome.The current study found that approximately 90% of patients with Marfan syndrome are caused by mutations in the FBN1 gene.About 70%-75% of patients have a family history.The clinical manifestations of Marfan syndrome is complex and diverse,different patients in different families or even the same family may have different clinical manifestations.Genetic screening for Marfan Syndrome family to find pathogenic mutations,Can confirm the diagnosis and early detection of the patient,early prevention and treatment of cardiovascular complications,Improve patient quality of life and extend patient survival.And it is of great significance to guide the marriage and childbearing of patients and their families and to carry out prenatal diagnosis for their offspring.Objective: Analyzing the phenotypic characteristics of a Marfan’s syndrome family with autosomal dominant genetic characteristics,Mutation screening of FBN1 gene In this family and was looking forward to discovering the family’s morbific genes mutation.Methods: Collect clinical data of three MFS families,Drawing a family tree,Collect family members’ peripheral venous blood,Extraction of genomic DNA followed by exome sequencing,Sequencing results confirmed by sanger method to determine the causative gene and its mutation site.Result:The genetic pattern of NO.1601 family is autosomal dominant.Two patients in this family had a heterozygous base substitution of C>G in the 17 th exon of the FBN1 gene,The original codon TAC was changed to TAG,resulting in a new prematured termination codon(PTC).The mutation has not been reported previously,it is a new discovery.Conclusion: The newly discovered nonsense mutation in exon 17 of FBN1 gene(position 48503812)is a pathogenic gene mutation in Marfan syndrome family No.1601.