Single amino acid substitution in HYLS1 leads to hydroletalus syndrome, which is part of the Finnish Disease Heritage. The disease belongs to ciliopathies, and it causes serious defects during the development of fetus and leads to death before, or shortly after birth. In this study, we reveal the essential role of HYLS1 for the normal development of the fetus and its central nervous system, as well as its connection with metabolism. In addition, we investigate the tissue and cellular disease mechanisms caused by HYLS1 variants. This research increases our understanding of the molecular mechanisms important for fetal development and function.

2025

2029