Sakae Ito on Muck Rack

Sakae Ito

As seen in: Nature
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Articles

A novel truncating FBN1 variant in a family with Marfan syndrome

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By Yuka Ito, Hiroshi Suzumura, Yuko Tanaka, George Imataka, Shujiro Hayashi, Hiromi Yuasa, Takahiro Yamada, Katsuhiko Naruse, Yoshimasa Kawarai, Hiroko Susaka, Miyuki Muramatsu, Wakana Soeda, Sakae Ito, Takahiko Kogai
| Nature Verified
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.
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