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 ).