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

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

doi:10.1172/JCI178528

¹Gynecology Research Unit, Hannover Medical School, Hannover, Germany

²International Centre for Genetic Engineering and Biotechnology, Trieste, Italy

³Cancer Center, University Medical Center, Amsterdam, Netherlands

⁴Institute of Human Genetics, University of Würzburg, Würzburg, Germany

⁵Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

Find articles by Bousset, K. in: JCI | PubMed | Google Scholar

¹Gynecology Research Unit, Hannover Medical School, Hannover, Germany

²International Centre for Genetic Engineering and Biotechnology, Trieste, Italy

³Cancer Center, University Medical Center, Amsterdam, Netherlands

⁴Institute of Human Genetics, University of Würzburg, Würzburg, Germany

⁵Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

Find articles by Donega, S. in: JCI | PubMed | Google Scholar

¹Gynecology Research Unit, Hannover Medical School, Hannover, Germany

²International Centre for Genetic Engineering and Biotechnology, Trieste, Italy

³Cancer Center, University Medical Center, Amsterdam, Netherlands

⁴Institute of Human Genetics, University of Würzburg, Würzburg, Germany

⁵Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

Find articles by Ameziane, N. in: JCI | PubMed | Google Scholar

¹Gynecology Research Unit, Hannover Medical School, Hannover, Germany

²International Centre for Genetic Engineering and Biotechnology, Trieste, Italy

³Cancer Center, University Medical Center, Amsterdam, Netherlands

⁴Institute of Human Genetics, University of Würzburg, Würzburg, Germany

⁵Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

Find articles by Fleischhammer, T. in: JCI | PubMed | Google Scholar

¹Gynecology Research Unit, Hannover Medical School, Hannover, Germany

²International Centre for Genetic Engineering and Biotechnology, Trieste, Italy

³Cancer Center, University Medical Center, Amsterdam, Netherlands

⁴Institute of Human Genetics, University of Würzburg, Würzburg, Germany

⁵Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

Find articles by Ramachandran, D. in: JCI | PubMed | Google Scholar

¹Gynecology Research Unit, Hannover Medical School, Hannover, Germany

²International Centre for Genetic Engineering and Biotechnology, Trieste, Italy

³Cancer Center, University Medical Center, Amsterdam, Netherlands

⁴Institute of Human Genetics, University of Würzburg, Würzburg, Germany

⁵Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

Find articles by Poley-Gil, M. in: JCI | PubMed | Google Scholar

¹Gynecology Research Unit, Hannover Medical School, Hannover, Germany

²International Centre for Genetic Engineering and Biotechnology, Trieste, Italy

³Cancer Center, University Medical Center, Amsterdam, Netherlands

⁴Institute of Human Genetics, University of Würzburg, Würzburg, Germany

⁵Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

Find articles by Schindler, D. in: JCI | PubMed | Google Scholar

¹Gynecology Research Unit, Hannover Medical School, Hannover, Germany

²International Centre for Genetic Engineering and Biotechnology, Trieste, Italy

³Cancer Center, University Medical Center, Amsterdam, Netherlands

⁴Institute of Human Genetics, University of Würzburg, Würzburg, Germany

⁵Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

Find articles by van de Laar, I. in: JCI | PubMed | Google Scholar |

¹Gynecology Research Unit, Hannover Medical School, Hannover, Germany

²International Centre for Genetic Engineering and Biotechnology, Trieste, Italy

³Cancer Center, University Medical Center, Amsterdam, Netherlands

⁴Institute of Human Genetics, University of Würzburg, Würzburg, Germany

⁵Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

Find articles by Pagani, F. in: JCI | PubMed | Google Scholar

¹Gynecology Research Unit, Hannover Medical School, Hannover, Germany

²International Centre for Genetic Engineering and Biotechnology, Trieste, Italy

³Cancer Center, University Medical Center, Amsterdam, Netherlands

⁴Institute of Human Genetics, University of Würzburg, Würzburg, Germany

⁵Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

Find articles by Dörk, T. in: JCI | PubMed | Google Scholar

J Clin Invest. https://doi.org/10.1172/JCI178528.
Copyright © 2024, Bousset et al. This work is licensed under the Creative Commons Attribution 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

Published December 12, 2024 - Version history

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

Kristine Bousset,¹ Stefano Donega,² Najim Ameziane,³ Tabea Fleischhammer,¹ Dhanya Ramachandran,¹ Miriam Poley-Gil,¹ Detlev Schindler,⁴ Ingrid M. van de Laar,⁵ Franco Pagani,² and Thilo Dörk¹

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

Kristine Bousset,1 Stefano Donega,2 Najim Ameziane,3 Tabea Fleischhammer,1 Dhanya Ramachandran,1 Miriam Poley-Gil,1 Detlev Schindler,4 Ingrid M. van de Laar,5 Franco Pagani,2 and Thilo Dörk1

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Kristine Bousset,¹ Stefano Donega,² Najim Ameziane,³ Tabea Fleischhammer,¹ Dhanya Ramachandran,¹ Miriam Poley-Gil,¹ Detlev Schindler,⁴ Ingrid M. van de Laar,⁵ Franco Pagani,² and Thilo Dörk¹