Identification of a novel pathogenic variant in FBN1 associated with Marfan syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Cold Spring Harbor Molecular Case Studies"
DOI: 10.1101/mcs.a006215
Abstract: Aortic diseases arising in Marfan syndrome (MFS), such as in aneurysms and dissections of the thoracic aorta, are related to genetic alterations in the FBN1 gene. Databases, such as Universal Mutations-FBN1, ClinVar, and The Human… read more here.
Keywords: fbn1; fbn1 gene; marfan syndrome; variant ... See more keywords
Identification of gross deletions in FBN1 gene by MLPA
Sign Up to like & getrecommendations! Published in 2018 at "Human Genomics"
DOI: 10.1186/s40246-018-0178-y
Abstract: BackgroundMarfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by mutations in the FBN1 gene. Approximately 90% of classic MFS patients have a FBN1 mutation that can be identified by single-gene sequencing or… read more here.
Keywords: fbn1 gene; gross deletions; mfs; fbn1 deletions ... See more keywords
Microhomology-Mediated Break-Induced Replication: A Possible Molecular Mechanism of the Formation of a Large CNV in FBN1 Gene in a Patient with Marfan Syndrome.
Sign Up to like & getrecommendations! Published in 2022 at "Current molecular medicine"
DOI: 10.2174/1566524022666220428111943
Abstract: BACKGROUND Marfan syndrome (MFS) is an autosomal dominant multisystem disorder caused by mutations in the fibrillin-1 gene (FBN1). A small portion of them is copy number variations (CNVs), which can occur through recombination-based, replication-based mechanisms… read more here.
Keywords: replication; fbn1 gene; marfan syndrome; microhomology mediated ... See more keywords
Rare Variants and Polymorphisms of FBN1 Gene May Increase the Risk of Non-Syndromic Aortic Dissection
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.778806
Abstract: Aortic dissection (AD) is a cardiovascular disease characterized by high mortality and poor prognosis. Although FBN1 is associated with syndromic AD, its association with non-syndromic AD remains unclear. In this study, DNA samples from 90… read more here.
Keywords: stanford; non syndromic; aortic dissection; fbn1 gene ... See more keywords
Targeted Panel Sequencing Identifies an Intronic c.5225-3C>G Variant of the FBN1 Gene Causing Sporadic Marfan Syndrome with Annuloaortic Ectasia
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13112108
Abstract: Marfan syndrome (MFS) is a hereditary connective tissue disease whose clinical severity varies widely. Mutations of the FBN1 gene encoding fibrillin-1 are the most common genetic cause of Marfanoid habitus; however, about 10% of MFS… read more here.
Keywords: fbn1 gene; marfan syndrome; 5225 variant; gene ... See more keywords
Neonatal Marfan syndrome diagnosed prenatally.
Sign Up to like & getrecommendations! Published in 2017 at "Ginekologia polska"
DOI: 10.5603/gp.a2017.0009
Abstract: Neonatal Marfan syndrome (nMFS) is far less common than the classic type and is considered to be a separate clinical entity, with its unique symptoms, specific mutations in the FBN1 gene, and extremely poor prognosis.… read more here.
Keywords: diagnosed prenatally; marfan syndrome; fbn1 gene; neonatal marfan ... See more keywords