Rediscovering ADSLD, Recording 4, Dr. Marie Zikánová

https://www.youtube.com/watch?v=t9Hfj88cC88

Dr. Zikánová presents a case report on a new nonsense variant in the ADSL gene that led to a severe prenatal form of ADSL deficiency in a non-viable fetus. Despite normal initial genetic tests, functional studies revealed that the mother's seemingly benign synonymous variant was, in fact, pathogenic. This discovery, which was uploaded to a public variant database, allows for potential prenatal and preimplantation genetic diagnosis in families with this variant, demonstrating the importance of functional studies for variants of uncertain significance (VUS).