Familial thrombocytopenia: The long and short of it

In this issue, Wahlster, Verboon, and colleagues (2021. J. Exp. Med. https://doi.org/10.1084/jem.20210444) describe a multigenerational family with inherited thrombocytopenia where the causal variant was not identified using conventional genome sequencing approaches. Long-read sequencing and RNA sequencing revealed a complex structural variant, causing overexpression of a pathogenic gain-of-function WAC-ANKRD26 fusion transcript.

Automated summary

In this study, researchers identified a complex structural variant causing inherited thrombocytopenia in a multigenerational family using long-read sequencing and RNA sequencing techniques. The variant resulted in overexpression of a pathogenic gain-of-function WAC-ANKRD26 fusion transcript.