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Damaging RBM20 E-rich domain variants are not rescued by gene replacement

Bai Fang Kaiser Chua Daniel Y. Li A. Kirillova Sunil Yadav David W. Staudt Yuta Yamamoto H. D. De Jong Linda H. Müller Kai Fenzl Non Rungaramsin Yong Huang C. Reuter Steven Zhang Vikki A. Krysov Joyce N. Njoroge B. Floyd N. K. Lakdawala Cynthia A. James D. Cannie P. Elliott L. Mestroni A. Owens Marco Merlo Andrew D. Krahn Chad Y Mao D. Fatkin V. Vedantham Anwar Chahal Adam S. Helms Joseph C. Wu C. Macrae M. Gotthardt D. Roden Frederick P. Roth E. Ashley Benjamin Meder Brett M. Kroncke Daniel R. Tabet Atina G. Coté Lars M. Steinmetz A. Glazer Mark Mercola V. Parikh
Jul 2026 · bioRxiv · 0 citations · 7 references
Medicine Biology

TL;DR

The data indicate that pathogenic E-rich domain variants reduce RBM20 protein abundance, but that their mechanism is unlikely to be explained by haploinsufficiency alone.

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