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Article / Chapter 2024 CC BY 4.0

published

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

Bousset, Kristine ; Donega, Stefano; Ameziane, Najim ; Fleischhammer, Tabea ; Ramachandran, Dhanya ; Poley-Gil, Miriam ; Schindler, Detlev ; van de Laar, Ingrid ; Pagani, Franco ; Dörk, Thilo

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

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Published in:: The journal of clinical investigation
Vol. 135, No. 3 (2024)Art.-No.:e178528
Volume:: 135
No.:: 3
Date Issued:: 2024
DOI:: 10.1172/JCI178528
Other identifier (pubmed):: 39666384
Language:: English
Type of Resource:: Text
Publisher:: American Society for Clinical Investigation
Keywords:: Humans; DNA Repair Enzymes; Acid Anhydride Hydrolases; DNA-Binding Proteins; RNA Splicing; Mutation; Introns; Exons; Female; Male; Genetics; Cell biology; DNA repair; RNA processing; Genetic diseases
DDC subject of DNB:: 610 Medical sciences Medicine
URL:: https://europepmc.org/articles/PMC11785915
Hosting institution:: Hospitals and Institutes, Department of Gynecology and Obstetrics
publications:: Erschienen in: J Clin Invest 2024;135(3):e178528 https://doi.org/10.1172/JCI178528
funding:: Veröffentlichung gefördert aus dem Publikationsfonds der MHH 2025.

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10.1172/JCI178528
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