Genotype-first analysis in an unselected health system-based population reveals variable phenotypic severity of COL4A5 variants.
McKenzie ZellersKaushal SolankiKyle RettererKaryn M MurphyMelissa A KellyH Les KirchnerIon Dan BucaloiuTooraj MirshahiBryn MooreAlexander R ChangPublished in: medRxiv : the preprint server for health sciences (2024)
In an unselected cohort, we show increased risks of AS-related phenotypes in men and women compared to matched controls, while showing a wider spectrum of severity than has been described previously and variability by genotype. Future studies are needed to determine whether early genetic diagnosis can improve outcomes in Alport Syndrome.