MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects-Reference-Cited by-同舟云学术

MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects

Published:2021-11-08 Issue:1 Volume:141 Page:65-80
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Coursimault Juliette,Guerrot Anne-Marie,Morrow Michelle M.,Schramm Catherine,Zamora Francisca Millan,Shanmugham Anita,Liu Shuxi,Zou Fanggeng,Bilan Frédéric,Le Guyader Gwenaël,Bruel Ange-Line,Denommé-Pichon Anne-Sophie,Faivre Laurence,Tran Mau-Them Frédéric,Tessarech Marine,Colin Estelle,El Chehadeh Salima,Gérard Bénédicte,Schaefer Elise,Cogne Benjamin,Isidor Bertrand,Nizon Mathilde,Doummar Diane,Valence Stéphanie,Héron Delphine,Keren Boris,Mignot Cyril,Coutton Charles,Devillard Françoise,Alaix Anne-Sophie,Amiel Jeanne,Colleaux Laurence,Munnich Arnold,Poirier Karine,Rio Marlène,Rondeau Sophie,Barcia Giulia,Callewaert Bert,Dheedene Annelies,Kumps Candy,Vergult Sarah,Menten Björn,Chung Wendy K.,Hernan Rebecca,Larson Austin,Nori Kelly,Stewart Sarah,Wheless James,Kresge Christina,Pletcher Beth A.,Caumes Roseline,Smol Thomas,Sigaudy Sabine,Coubes Christine,Helm Margaret,Smith Rosemarie,Morrison Jennifer,Wheeler Patricia G.,Kritzer Amy,Jouret Guillaume,Afenjar Alexandra,Deleuze Jean-François,Olaso Robert,Boland Anne,Poitou Christine,Frebourg Thierry,Houdayer Claude,Saugier-Veber Pascale,Nicolas Gaël,Lecoquierre François^ORCID

Funder

RIN2018

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://link.springer.com/content/pdf/10.1007/s00439-021-02383-z.pdf

Reference37 articles.

1. Al Tuwaijri A, Alfadhel M (2019) MYT1L mutation in a patient causes intellectual disability and early onset of obesity: a case report and review of the literature. J Pediatr Endocrinol Metab 32:409–413. https://doi.org/10.1515/jpem-2018-0505

2. Becker K, Jaggard C, Horrocks S (2010) A novel presentation of a rare chromosome 2p25.2 deletion. Clin Dysmorphol 19:101–102. https://doi.org/10.1097/MCD.0b013e328337bb28

3. Blanchet P, Bebin M, Bruet S et al (2017) MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus. PLoS Genet 13:e1006957. https://doi.org/10.1371/journal.pgen.1006957