A novel truncating FBN1 variant in a family with Marfan syndrome
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. This finding expands the mutational and phenotypic spectrum of FBN1 and highlights the clinical utility of genetic testing in family-based clinical management of Marfan syndrome.
Authors
- Yoshimasa Kawarai (ORCID: https://orcid.org/0000-0002-9886-6384)
- George Imataka (ORCID: https://orcid.org/0000-0002-7691-0460)
- Hiroshi Suzumura
- Takahiko Kogai (ORCID: https://orcid.org/0000-0002-2413-2564)
- Katsuhiko Naruse (ORCID: https://orcid.org/0000-0001-6129-5074)
- Sakae Ito
- Takahiro Yamada (ORCID: https://orcid.org/0000-0002-5370-7873)
- Miyuki Muramatsu
- Wakana Soeda
- Yuka Ito (ORCID: https://orcid.org/0009-0001-6327-5322)
- Yuko Tanaka (ORCID: https://orcid.org/0000-0001-5575-2291)
- Shujiro Hayashi
- Hiroko Susaka
- Hiromi Yuasa
Institutions
- Dokkyo University (JP)
- Hokkaido University Hospital (JP)
- Dokkyo Medical University (JP)
Publication Details
- Journal
- Human Genome Variation
- Published
- 2026-06-12
- DOI
- https://doi.org/10.1038/s41439-026-00355-1
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 0.00