Update: Our manuscript describing a cryptic splice mutation in in the fumarate hydratase gene is now online!
In this study, we evaluated patients from two independent families with clinical manifestations of HLRCC, but for whom standard clinical genetic testing revealed no phenotypica variations. As part of our biochemical and molecular characterization, we performed Nanopore direct RNA sequencing, and identified a single intronic point mutaiton, which results in alternative splicing of the FH mRNA.