In their letter, Kossmann Ferraz et al
1
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.To read this article in full you will need to make a payment
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References
- 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
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.
Article info
Publication history
Published online: August 03, 2022
Accepted:
June 30,
2022
Received:
June 27,
2022
Identification
Copyright
© 2022 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.
ScienceDirect
Access this article on ScienceDirectLinked Article
- 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 alGenetics in MedicineVol. 24Issue 10
- PreviewWe read with great interest the article by Nizon et al,1 in which the authors have described a cohort of 7 unrelated individuals with intellectual disability/developmental delay and loss-of-function variants in MED12L gene. The phenotype was characterized by intellectual disability/developmental delay (7/7), speech and motor impairment (7/7), seizures (1/7), gastrointestinal anomalies (5/7), facial and hand dysmorphic signs (5/7), and callosal dysgenesis (2/4). All probands had a germline loss-of-function variant in MED12L gene, and the pathogenic variant was de novo in 4 of 4 patients.
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