| Literature DB >> 25758992 |
Abidemi Adegbola1,2,3, Luciana Musante4, Bert Callewaert5, Patricia Maciel6,7, Hao Hu4, Bertrand Isidor8,9, Sylvie Picker-Minh10,11, Cedric Le Caignec8,9, Barbara Delle Chiaie5, Olivier Vanakker5, Björn Menten5, Annelies Dheedene5, Nele Bockaert12, Filip Roelens13, Karin Decaestecker14, João Silva15, Gabriela Soares16, Fátima Lopes6,7, Hossein Najmabadi17, Kimia Kahrizi17, Gerald F Cox18, Steven P Angus19, John F Staropoli20, Ute Fischer4, Vanessa Suckow4, Oliver Bartsch21, Andrew Chess1,2,3, Hans-Hilger Ropers4, Thomas F Wienker4, Christoph Hübner10, Angela M Kaindl10,11, Vera M Kalscheuer4.
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.Entities:
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Year: 2015 PMID： 25758992 PMCID： PMC4592099 DOI： 10.1038/ejhg.2015.26
Source DB: PubMed Journal: Eur J Hum Genet ISSN： 1018-4813 Impact factor: 4.246