2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review-Reference-Cited by-同舟云学术

2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review

Published:2023-05-15 Issue:8 Volume:31 Page:895-904
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Bouassida Malek^ORCID,Egloff Matthieu,Levy Jonathan,Chatron Nicolas^ORCID,Bernardini Laura^ORCID,Le Guyader Gwenaël^ORCID,Tabet Anne-Claude,Schluth-Bolard Caroline,Brancati Francesco^ORCID,Giuffrida Maria Grazia,Dard Rodolphe,Clorennec Juliette,Coursimault Juliette,Vialard François^ORCID,Hervé Bérénice

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/s41431-023-01379-9.pdf

Reference30 articles.

1. Coursimault J, Guerrot AM, Morrow MM, Schramm C, Zamora FM, Shanmugham A, et al. MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects. Hum Genet. 2022;141:65–80.

2. Windheuser IC, Becker J, Cremer K, Hundertmark H, Yates LM, Mangold E, et al. Nine newly identified individuals refine the phenotype associated with MYT1L mutations. Am J Med Genet A. 2020;182:1021–31.

3. Chen J, Lambo ME, Ge X, Dearborn JT, Liu Y, McCullough KB, et al. A MYT1L syndrome mouse model recapitulates patient phenotypes and reveals altered brain development due to disrupted neuronal maturation. Neuron. 2021;109:3775–3792.e14.

4. De Rocker N, Vergult S, Koolen D, Jacobs E, Hoischen A, Zeesman S, et al. Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity. Genet Med Off J Am Coll Med Genet. 2015;17:460–6.

5. Manukyan A, Kowalczyk I, Melhuish TA, Lemiesz A, Wotton D. Analysis of transcriptional activity by the Myt1 and Myt1l transcription factors. J Cell Biochem. 2018;119:4644–55.

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