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Fibrillin-1  ( FBN1 ) is responsible for haploinsufficient and autosomal dominant Marfan syndrome. Even in the same Marfan pedigree, penetrance and expressivity in heterozygous individuals can differ and result in variable disease onset and severity. Thus, other factors in addition to mutations in  FBN1  are likely to contribute to the disease. In this study, we examined the regulation of  FBN1  in porcine Marfan syndrome model, focusing on DNA methylation patterns distinguishable as wild-type (WT) and  FBN1  null (KO) alleles in heterozygous cells. Most importantly, the ratio of the transcriptionally active hypomethylated WT allele was altered during cellular passage and highly correlated with  FBN1  mRNA level compared with that in the KO allele. Transcribed  FBN1  RNA from the KO allele was abolished after splicing coupled with translational initiation, suggesting that the functional  FBN1  mRNA levels were affected by DNA methylation of the WT allele.

DNA methylation ambiguity in the Fibrillin-1 (FBN1) CpG island shore possibly involved in Marfan syndrome