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Compound heterozygous mutations in FBN1 in a large family with Marfan syndrome.

Molecular genetics & genomic medicine - 1 Mar 2020

McInerney-Leo Aideen M, West Jennifer, Wheeler Lawrie, Leo Paul J, Summers Kim M, Anderson Lisa, Brown Matthew A, West Malcolm, Duncan Emma L

Abstract excerpt

BACKGROUND: Marfan syndrome (MFS) is a dominant monogenic disorder caused by mutations in fibrillin 1 (FBN1). Rarely, compound heterozygosity for FBN1 mutations has been described. METHODS: A large kindred with MFS was assessed clinically over decades, and genetically using exome and/or Sanger sequencing. RESULTS: A previously identified FBN1 missense variant (p.Tyr754Cys) was confirmed in all subjects with MFS....

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PMID: 31950671
DOI: 10.1002/mgg3.1116
PMCID: PMC7057098

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