Characteristics in phenotypic manifestations of genetically proved Marfan syndrome in a Japanese population

Diagnosis of Marfan syndrome (MS) is made according to the Ghent nosology, which is based on data from European and American populations. The validity of applying the Ghent nosology to other than Western populations is an ongoing discussion because there may be racial differences in basic physical features. The validity of applying the Ghent nosology to patients other than Westerners suspected of having MS was examined. One hundred thirteen Japanese patients who were suspected of having MS and underwent genetic analysis were examined to see whether they fulfilled the Ghent nosology. Of 113 patients, MS was diagnosed in 58 patients/51 probands. Of these 51 probands, 46 (90%) showed mutations in the Fibrillin-1 gene(FBN1) and were enrolled in this study. The frequency of each manifestation of Ghent nosology in the Japanese population was compared with those reported in the FBN1 Universal Mutation Database that was mainly obtained from the Western population (n = 1,013 probands). Frequencies were lower in the Japanese population than the Western population of the manifestations of arm span to height ratio >1.05 (20% vs 55%; p <0.01), scoliosis (40% vs 53%; p <0.05), reduced extension at elbows (2% vs 16%; p <0.05), and joint hypermobility (46% vs 63%; p <0.05). In conclusion, we found a lower frequency of skeletal manifestations of MS in Japanese patients than reported in the database for Western patients with MS. It was possible that the diagnosis of MS according to the Ghent nosology for Japanese patients was underestimated, especially for skeletal involvements.