A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolved
Holly C. Beale, Victor Tse, J.Y. Lee, Jon Akutagawa, Yusuph Mavura, Brandon Saint-John, Allison R. Cheney, Dennis Mulligan, Guillermo Chacaltana, Martin E Gutierrez, Jessica Tenney, Joseph T.C. Shieh, Pierre‐Marie Martin, Tiffany Yip, Uğur Hodoğlugil, , Anne Michele Slavotinek
The paper identifies a pathogenic splice site variant in DEGS1 causing aberrant splicing and loss of enzyme activity in individuals with HLD18.
Human Genetics · May 6, 2026Peer-reviewedGenetic & Genomic Medicine