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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.
Keywords
INTELLECTUAL DISABILITY, COMPARATIVE GENOMIC HYBRIDIZATION, MEDIATOR COMPLEX, GREAT-ARTERIES, GENE, MUTATION, TRANSCRIPTION, TRANSPOSITION, STRATEGY, DEFECTS

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Chicago
Adegbola, Abidemi, Luciana Musante, Bert Callewaert, Patricia Maciel, Hao Hu, Bertrand Isidor, Sylvie Picker-Minh, et al. 2015. “Redefining the MED13L Syndrome.” European Journal of Human Genetics 23 (10): 1308–1317.
APA
Adegbola, A., Musante, L., Callewaert, B., Maciel, P., Hu, H., Isidor, B., Picker-Minh, S., et al. (2015). Redefining the MED13L syndrome. EUROPEAN JOURNAL OF HUMAN GENETICS, 23(10), 1308–1317.
Vancouver
1.
Adegbola A, Musante L, Callewaert B, Maciel P, Hu H, Isidor B, et al. Redefining the MED13L syndrome. EUROPEAN JOURNAL OF HUMAN GENETICS. 2015;23(10):1308–17.
MLA
Adegbola, Abidemi et al. “Redefining the MED13L Syndrome.” EUROPEAN JOURNAL OF HUMAN GENETICS 23.10 (2015): 1308–1317. Print.
@article{6967818,
  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       = {Adegbola, Abidemi and Musante, Luciana and Callewaert, Bert and Maciel, Patricia and Hu, Hao and Isidor, Bertrand and Picker-Minh, Sylvie and Le Caignec, Cedric and Delle Chiaie, Barbara and Vanakker, Olivier and Menten, Björn and Dheedene, Annelies and Bockaert, Nele and Roelens, Filip and Decaestecker, Karin and Silva, João and Soares, Gabriela and Lopes, Fátima and Najmabadi, Hossein and Kahrizi, Kimia and Cox, Gerald F and Angus, Steven P and Staropoli, John F and Fischer, Ute and Suckow, Vanessa and Bartsch, Oliver and Chess, Andrew and Ropers, Hans-Hilger and Wienker, Thomas F and Hübner, Christoph and Kaindl, Angela M and Kalscheuer, Vera M},
  issn         = {1018-4813},
  journal      = {EUROPEAN JOURNAL OF HUMAN GENETICS},
  keywords     = {INTELLECTUAL DISABILITY,COMPARATIVE GENOMIC HYBRIDIZATION,MEDIATOR COMPLEX,GREAT-ARTERIES,GENE,MUTATION,TRANSCRIPTION,TRANSPOSITION,STRATEGY,DEFECTS},
  language     = {eng},
  number       = {10},
  pages        = {1308--1317},
  title        = {Redefining the MED13L syndrome},
  url          = {http://dx.doi.org/10.1038/ejhg.2015.26},
  volume       = {23},
  year         = {2015},
}

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