Felix Richter, Kayleigh D Rutherford, Anisha J Cooke, Malorie Meshkati, Vanessa Eddy-Abrams, Daniel Greene, Jordana Kosowsky, Yeaji Park, Surabhi Aggarwal, Rebecca J Burke, Weili Chang, Jillian Connors, Peter J Giannone, Thomas Hays, Divya Khattar, Mark Polak, Liana Senaldi, Matthew Smith-Raska, Shanthy Sridhar, Laurie Steiner, Jonathan R Swanson, Kate A Tauber, Mafalda Barbosa, Katherine F Guttmann, Ernest Turro
The etiologies of newborn deaths in neonatal intensive care units usually remain unknown, even following genetic testing. Whole-genome sequencing, combined with artificial intelligence-based methods for predicting the effects of non-coding variants, provide an avenue for resolving these deaths. Using one such method, SpliceAI, we identified a maternally inherited deep intronic PKHD1 splice variant (chr6:52030169T>C), in trans with a pathogenic missense variant (p.Thr36Met), in a baby who died of autosomal recessive polycystic kidney disease at age two days...
January 9, 2024: American Journal of Kidney Diseases