SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype

Chantal Stoepker, Karolina Hain, Beatrice Schuster, Yvonne Hilhorst-Hofstee, Martin A. Rooimans, Jurgen Steltenpool, Anneke B. Oostra, Katharina Eirich, Elisabeth T. Korthof, Aggie W. M. Nieuwint, Nicolaas G. J. Jaspers, Thomas Bettecken, Hans Joenje, Detlev Schindler (Lead / Corresponding author), John Rouse (Lead / Corresponding author), Johan P. de Winter (Lead / Corresponding author)

    Research output: Contribution to journalArticlepeer-review

    218 Citations (Scopus)


    DNA interstrand crosslink repair requires several classes of proteins, including structure-specific endonucleases and Fanconi anemia proteins. SLX4, which coordinates three separate endonucleases, was recently recognized as an important regulator of DNA repair. Here we report the first human individuals found to have biallelic mutations in SLX4. These individuals, who were previously diagnosed as having Fanconi anemia, add SLX4 as an essential component to the FA-BRCA genome maintenance pathway.

    Original languageEnglish
    Pages (from-to)138-U85
    Number of pages6
    JournalNature Genetics
    Issue number2
    Publication statusPublished - Feb 2011

    Cite this