Article
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
Human genetics - 1 Jan 2022
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
Abstract excerpt
Pathogenic variants of the myelin transcription factor-1 like (MYT1L) gene include heterozygous missense, truncating variants and 2p25.3 microdeletions and cause a syndromic neurodevelopmental disorder (OMIM#616,521). Despite enrichment in de novo mutations in several developmental disorders and autism studies, the data on clinical characteristics and genotype-phenotype correlations are scarce, with only 22...
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