@article{e1bd36aaf1bf4931a5d547220f2f530e,
title = "Redefining the MED13L syndrome",
abstract = "Congenital cardiac and neurodevelopmental deficits have been recently linked to the mediator complex subunit 13-like protein MED13L, a subunit of the CDK8-associated mediator complex that functions in transcriptional regulation through DNA-binding transcription factors and RNA polymerase II. Heterozygous MED13L variants cause transposition of the great arteries and intellectual disability (ID). Here, we report eight patients with predominantly novel MED13L variants who lack such complex congenital heart malformations. Rather, they depict a syndromic form of ID characterized by facial dysmorphism, ID, speech impairment, motor developmental delay with muscular hypotonia and behavioral difficulties. We thereby define a novel syndrome and significantly broaden the clinical spectrum associated with MED13L variants. A prominent feature of the MED13L neurocognitive presentation is profound language impairment, often in combination with articulatory deficits.",
author = "Abidemi Adegbola and Luciana Musante and Bert Callewaert and Patricia Maciel and Hao Hu and Bertrand Isidor and Sylvie Picker-Minh and {Le Caignec}, Cedric and Chiaie, {Barbara Delle} and Olivier Vanakker and Bj{\"o}rn Menten and Annelies Dheedene and Nele Bockaert and Filip Roelens and Karin Decaestecker and Jo{\~a}o Silva and Gabriela Soares and F{\'a}tima Lopes and Hossein Najmabadi and Kimia Kahrizi and Cox, {Gerald F.} and Angus, {Steven P.} and Staropoli, {John F.} and Ute Fischer and Vanessa Suckow and Oliver Bartsch and Andrew Chess and Ropers, {Hans Hilger} and Wienker, {Thomas F.} and Christoph H{\"u}bner and Kaindl, {Angela M.} and Kalscheuer, {Vera M.}",
note = "Funding Information: We thank all families for participation in this study, Bettina Lipkowitz and Susanne Freier for excellent technical assistance. This work was supported by the Deutsches Humangenom-Programm (DHGP, grant number 01KW9908), the Nationales Genomforschungsnetzwerk (NGFN, project number 01GR0105), the German Research Foundation (SFB665), the Brain and Behavior Foundation (AA), the Berlin Institute of Health (BIH), the Sonnenfeld Stiftung, the Senate of Berlin by funds to the Berlin Institute for Medical Systems Biology (BIMSB), the Iranian National Science foundation, FEDER funds through the COMPETE program, Portuguese national funds through FCT - Funda{\c c}{\~a}o para a Ci{\^e}ncia e Tecnologia (project PIC/IC/83026/2007, scholarship to FL SFRH/BD/ 84650/2010), the Max Planck Society and the EU FP 7 project GENCODYS (grant number 241995). Publisher Copyright: {\textcopyright} 2015 Macmillan Publishers Limited. All rights reserved.",
year = "2015",
month = oct,
day = "22",
doi = "10.1038/ejhg.2015.26",
language = "English",
volume = "23",
pages = "1308--1317",
journal = "European Journal of Human Genetics",
issn = "1018-4813",
publisher = "Nature Publishing Group",
number = "10",
}