Chinese Hans Marfan Syndrome Clinical Phenotye And Skeleral System Data And 5 New Mutation Gene Types

Objective: Now the internationally recognized Marfan syndrome diagnostic criteria which was build in 2010 called The Reviesd Ghent criteria.But the criteria was build by the western characteristic.This research was aimed to compare chinese Marfan patient to FBN1 Universal Mutation Database to see if the Ghent criteria is suit fou the chinese Marfan patient. By measuring the selected patients upper segment to lower segment and arm span to height diagnosed with Marfan syndrome to perfect the Ghent system score where there is no date from chinese,and ues the gene sequencing technology to see If there is a new mutation in FBN1.Method:Select 74 patient from anzhen hospital who was uncertain diagnosis Marfan syndrome. For everyone ask their patient history, family history, collection of previous examination and do detailed physical examination(involved manifestations from Ghent criteria),collect blood sample to genetic testing tosee if there is new mutation in FBN1.Select 45 patient who was suit for thestandard to compare to the date from FBN1 Universal Mutation Database.measure the 45 patient(without scoliosis) upper segment,lower segment,armspan and height.compare with the control group.Result:To compare chinese Marfan syndrome with the western Marfan syndrome.arm span to height>1.05(13%vs55%;P<0.01),scoliosis(29%vs53%;P<0.05), joint hypermobility(42%vs63%;P<0.05),So chinese Marfan syndrome morbidity in skeletal criteria is lower than western.But in the cardiovascular systen,the chinese Marfan syndrome mobidity is higher than western(probably result in patient who come to our hospital for the purpose of diagnosis and treatment of cardiovascular related major).Dilatation of ascending arota(96%vs77%;P<0.01),dissection of ascendingatota(26%vs14%;P<0.05).The result of chinese Marfan syndrome upper segment to lower segment is 0.85±0.05;arm span to height is 1.02±0.02.Through the genitic testing,we have found 5 new mutations in FBN1.Conclusion:Ghent criteria is not completely suit for chinese Marfan syndrome,e spscially in skeletal system.We need to collect a larger date to analysis to buli d a new standard which is more senstive and correctly to the chinese Marfan syndrome. The whole exon detection forthe Marfan syndrome patient can build the data foundationg for the Molecular diagnosis,and provide the date for the Marfan syndrome patient clinic management.