Loeys et al., "Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1
mutations: an international study," The American Journal of Human Genetics, vol.
Nevertheless, exome sequencing identified the presence of de novo heterozygous FBN1
variants in both patients.
In our case a pathogenic variant has been identified in the FBN1
Ansaldi et al., "Identification of sixty-two novel and twelve known FBN1
mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies," Human Mutation, vol.
In conclusion, the c.3037G>A mutation in FBN1
has been previously reported as pathogenic, resulting in either severe or atypically severe or neonatal forms of MFS (6,7).
Guo et al., "Detection of SNCA and FBN1
methylation in the stool as a biomarker for colorectal cancer," Disease Markers, vol.
Marfan syndrome is caused by mutations in the FBN1
gene on chromosome 15, which encodes the protein fibrillin-1.
This list includes ADHFE1, ALX4, CNRIP1, EID3, ELMO1, ESR1, FBN1
, HLTF, LAMM, NEUROG1, NGFR, RARB, RXRG, RYR2, SDC2, SEPT9, SFRP2, SOCS3, SOX17, THBD, TMEFF2, UCHL1, and VIM genes.
UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity – Application to four genes: FBN1
, FBN2, TGFBR1, and TGFBR2.
BMP15 prevents cumulus cell apoptosis through CCL2 and FBN1
in porcine ovaries.