Clinical and genetic analysis of Korean patients with Marfan syndrome: possible ethnic differences in clinical manifestation

Abstract

Marfan syndrome (MFS) is an autosomal dominant disorder of the fibrous connective tissue caused by mutations in the fibrillin-1 (FBN1) gene. Although clinical and genetic analyses have been performed in various populations, there have been few studies in Korea. The aim of this study was to investigate the clinical characteristics and genetic background of Korean patients with MFS. In 39 Korean patients with MFS who met the Ghent criteria, the most common clinical finding was aortic dilatation and/or dissection (94.9%), whereas only 35.9% of patients had ectopia lentis. The majority of MFS patients had fewer than four of the skeletal findings required to fulfill the major skeletal Ghent criterion for MFS. Only 21% of Korean patients had major skeletal abnormalities and most cases showed only minor skeletal involvement. FBN1 gene mutations were detected in 35 out of 39 patients (89.7%), which is similar to rates presented in the previous reports. These results suggest that some clinical features in Korean patients with MFS differed from those reported in Western MFS patients.

Clinical Characteristics of Marfan Syndrome in Korea

“…In earlier studies, Asian patients with MFS had a lower occurrence of ectopia lentis (25-36%) as compared with Western patients (54%) 5)13)14)15). However, the results of previous studies might have shown selection bias because of the small numbers of patients involved.…”

“…Possible ethnic differences in the clinical manifestations of patients with MFS have been suggested 5). However, there are limited data available on the clinical features of Korean patients with MFS, and the available reports are based on only small numbers of patients 5)6).…”

Clinical Features Differ Substantially Between Caucasian and Asian Populations of Marfan Syndrome

“…Furthermore, our study confirmed that Asian populations have a lower prevalence of ectopia lentis and less pectus deformities. 21, 22 The second factor in the under diagnosis of MFS in the present study may be that genetic testing for a FBN1 mutation is not routine practice in Singapore, because of insurance regulations. MFS is a progressive disease, so genetic testing is important in patients who do not yet meet the Ghent criteria, such as mildly affected and young patients, 36 who may develop MFS and cardiovascular complications over time.…”

A novel FBN1 gene mutation associated with earlyonset pneumothorax in Marfan syndrome

“…There have been many attempts to clarify the relationship between the genotype and phenotype in Korean patients with MFS. Oh et al [18] reported six novel mutations in the FBN1 gene in Korean patients and Yoo et al [19] identified 27 novel mutations in Korean patients to verify the clinical phenotypes and mutation spectrum of the FBN1gene; however, no clear correlations have been found. Therefore, further analysis is needed to identify the role of FBN1 mutations.…”