A deep intronic mutation causes RAD50 deficiency through an unusual mechanism of distant exon activation

J Clin Invest. 2024 Dec 12;135(3):e178528. doi: 10.1172/JCI178528.

¹ Gynecology Research Unit, Hannover Medical School, Hannover, Germany.
² International Centre for Genetic Engineering and Biotechnology, Trieste, Italy, and Intramural Research Program of National Institute on Aging, NIH, Baltimore, Maryland, USA.
³ UMC Cancer Center, Amsterdam, Netherlands.
⁴ Institute of Human Genetics, University of Würzburg, Würzburg, Germany.
⁵ Department of Clinical Genetics, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, Netherlands.

Abstract

This study identifies and characterizes a novel type of splicing mutation in RAD50 deficiency, a rare genetic disorder.

Keywords: Cell biology; DNA repair; Genetic diseases; Genetics; RNA processing.