A novel pathogenic variant located just upstream of the C ‐terminal Ser423‐X‐Ser425 phosphorylation motif in SMAD3 causing Loeys–Dietz syndrome

ConclusionsOur results revealed the presence of TGF- β paradox in this case with the novel loss-of-functionSMAD3 variant. The precise mechanism underlying the paradox is unknown, but further research is warranted to clarify the influence of theSMAD3 variant type and location on the LDS3 phenotype as well as the molecular mechanism leading to LDS3 aortopathy.

Source: Molecular Genetics & Genomic Medicine - October 21, 2023 Category: Genetics & Stem Cells Authors: Satoshi Ishii, Takayuki Fujiwara, Hiroki Yagi, Norifumi Takeda, Masahiko Ando, Haruo Yamauchi, Ryo Inuzuka, Yuki Taniguchi, Masaru Hatano, Issei Komuro Tags: CLINICAL REPORT Source Type: research