FBN1 gene
The clinical diagnosis of patient R47 with mutation c.8286_8289delCATC in FBN1 gene is Marfan syndrome. c.8286_8289delCATC is a novel mutation, which is the first report in FBN1 gene. FBN1 is a susceptibility gene for Marfan syndrome, which is an autosomal dominant disease. The downstream truncation variation of this frameshift mutation in FBN1 gene in the individual has been reported as disease-causing mutation in many literatures (Jensen et al., 2014 ; Baudhuin et al., 2014 ; Aalberts et al., 2014 ). Mutations in the FBN1 gene, encoding fibrillin-1, lead to a series of severe cardiovascular inherited complications and connective tissue disorders, such as Marfan syndrome (MFS), whose major features include tall stature and arachnodactyly, ectopia lentis, and thoracic aortic aneurysm and dissection (Aalberts et al., 2014 ; Zeng et al., 2018 ; Faivre et al., 2007 ; Sakai et al., 2016 ). Since more than one thousand individual mutations in FBN1 are associated with Marfan syndrome and mutations in specific regions ofFBN1 can cause the opposite features, it is difficult to identify genotype-phenotype correlations (Sakai et al., 2016 ). Dr. Baudhuin and her co-workers observed that a higher frequency of truncating or splicing FBN1 variants in Ghent criteria-positive patients, and found that missense mutations are the most common type ofFBN1 mutation, by investigating FBN1 genotype-phenotype correlations with aortic dissection and prophylactic aortic surgery in patients with Marfan syndrome. They also concluded that FBN1mutations have been shown to occur with limited genotype-phenotype correlations across the gene in their study (Baudhuin et al., 2014 ). In Aalberts et al., the data show that in those patients without an FBN1 mutation, the prevalence of left ventricle (LV) dilatation was significantly higher than in those patients with such a mutation (Aalberts et al., 2014 ).