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.

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.

MeSH terms

  • Acid Anhydride Hydrolases / genetics
  • DNA Repair Enzymes / genetics
  • DNA Repair Enzymes / metabolism
  • DNA-Binding Proteins / genetics
  • Exons*
  • Female
  • Humans
  • Introns*
  • Male
  • Mutation*
  • RNA Splicing

Substances

  • Acid Anhydride Hydrolases
  • DNA Repair Enzymes
  • DNA-Binding Proteins
  • RAD50 protein, human