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Response to Kossmann Ferraz et al

  • Mathilde Nizon
    Correspondence
    Correspondence and requests for materials should be addressed to Mathilde Nizon, Service de Génétique Médicale, CHU Nantes, Nantes Université, CNRS, INSERM, l’institut du thorax, F-44000 Nantes, France.
    Affiliations
    Service de Génétique Médicale and L’institut du Thorax, CHU Nantes, Nantes Université, CNRS, INSERM, Nantes, France
    Search for articles by this author
  • Bertrand Isidor
    Affiliations
    Service de Génétique Médicale and L’institut du Thorax, CHU Nantes, Nantes Université, CNRS, INSERM, Nantes, France
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Published:August 03, 2022DOI:https://doi.org/10.1016/j.gim.2022.06.012
      In their letter, Kossmann Ferraz et al
      • Kossmann Ferraz M.
      • Esposito A.C.
      • Schmidt C.
      • Lima F.D.
      • MA Vargas R.
      Correspondence on “Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect” by Nizon et al.
      reported a patient affected by a neurodevelopmental disorder and carrying a germline de novo loss-of-function variant (c.971del;p.(pro324Glnfs∗18)) in MED12L. This boy also carries 2 de novo chromosomal balanced reciprocal translocations: 46,XY,t(1;2)(p33;p22),t(5;9)(p15;q21). This lead them to ask if a loss-of-function MED12L variant could induce chromosomal instability and be responsible for a de novo rearrangement.
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      References

        • Kossmann Ferraz M.
        • Esposito A.C.
        • Schmidt C.
        • Lima F.D.
        • MA Vargas R.
        Correspondence on “Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect” by Nizon et al.
        Genet Med. 2022; 24: 2204-2205
      1. Nizon M, Laugel V, Flanigan KM, et al. Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. Genet Med. 2019;21(12):2713-2722. Published correction appears in Genet Med. 2019;21(11):2663. https://doi.org/10.1038/s41436-019-0557-3.

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