Katsuhiko Naruse

Abstract Marfan syndrome is caused by pathogenic variants in FBN1. We identified a novel heterozygous frameshift variant in FBN1 (NM_000138.5: c.6784_6787del, NP_000129.3:p.(Gln2262TrpfsTer28)) in an adult male with severe cardiovascular manifestations. The variant was absent from population databases and fulfilled PVS1 and PM2 criteria.

CONFLICT OF INTEREST STATEMENT Authors declare no conflict of interest for this article. Dr. Naruse Katsuhiko and Tanaka Hiroaki are an Editorial Board members of the JOGR Journal and co-authors of this article. To minimize bias, they were excluded from all editorial decision-making related to the acceptance of this article for publication.

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