FBN1 gene mutationgenotype-phenotype correlationOBJECTIVE: To analyze ocular involvement in patients diagnosed with Marfan syndrome (MFS), study their clinical findings and prognosis based on the type of FBN1 mutation, and evaluate possible genotype-phenotype correlations. DESIGN: Observational single-...
Marfan syndrome (MFS) is a connective tissue disorder comprising multiple organ manifestations caused by a mutation in the gene FBN1 that codes for the protein, fibrillin-1 [1]. Thoracoscopic Treatment of Pneumothorax in Marfan Syndrome: Hemostatic Patch to Support Lung Resection Recovery Marfan syn...
2、arfan syndrome ,MFS) 现已证实位于 15 号染色体长臂即 15q21.2 上编码微纤维蛋白的基因即FBN1( fibrillin-1 gene)基因的缺陷或突变是该病的主要病因 已确认此基因的 201 种突变可导致Marfan 综合征的发病 Marfan 综合征(Marfan syndrome ,MFS) FBN1 基因 cDNA 全长200kb, 65 个外显子, 编码序列为10...
§1,628 patients with suspected Marfan syndrome between 1977 and 2014 assessed using 2010 revised Ghent nosology §412 patients had Marfan syndrome §prevalence 6.5 per 100,000 persons in Denmark at end of 2014 §incidence and prevalence increased during study period ...
28 Marfan syndrome shows striking pleiotropism and clinical variability whereas the prognosis of the disease is often poor due to cardiovascular events. All cases of true Marfan syndrome appear to result from a mutation in the fibrillin-1 gene (OMIM 134797), which is located on chromosome 15. ...
with Marfan syndrome:A case report3.Genotype-phenotype analysis of a novel mutation of FBN1 gene in a Chinese Marfan syndrome family4.A novel TGFBR2 gene mutation of type 2 Marfan syndrome in a Chinese family5.Identification of a fibrillin-1 gene mutation in a Chinese Marfan syndrome family...
Marfan's syndrome is characterised by clinical signs of different systems: cardiovascular (aortic dilatation, risk of dissection, mitral valve prolapse), ophthalmological with risk of blindness, rheumatological, dermatological and neurological. It is a genetic disorder, usually related to a mutation of ...
acid change was gly241ser.Restrictive endonuclease site EagⅠwas eliminated.This mutation was not found in unaffected family members of this family.Conclusion A recurrent mutation g640a of FBN1 gene with glycine to serine change is responsible for the Marfan syndrome patients in a chinese family....
Marfan syndrome (MFS) is a highly variable genetic connective tissue disorder caused by mutations in the calcium binding extracellular matrix glycoprotein fibrillin-1. Patients with the most severe form of MFS (neonatal MFS; nMFS) tend to have mutations that cluster in an internal region of fibrill...
fibrillin‐1 (FBN1)heterozygous mutationMarfan syndrome (MFS)targeted next‐generation sequencing (NGS)BackgroundPrevious studies showed that the fibrillin‐1 gene (FBN1) is responsible for Marfan sydrome (MFS) pathogenesis. This study is conducted to screen for mutations in the FBN1 gene in ...