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  Redefining the MED13L syndrome

Adegbola, A., Musante, L., Callewaert, B., Maciel, P., Hu, H., Isidor, B., et al. (2015). Redefining the MED13L syndrome. European journal of human genetics, 23(10), 1308-1317. doi:10.1038/ejhg.2015.26.

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Item Permalink: http://hdl.handle.net/21.11116/0000-0000-BFA7-D Version Permalink: http://hdl.handle.net/21.11116/0000-0000-BFA8-C
Genre: Journal Article

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 Creators:
Adegbola, A., Author
Musante, L.1, Author              
Callewaert, B., Author
Maciel, P., Author
Hu, H.1, Author
Isidor, B., Author
Picker-Minh, S., Author
Le Caignec, C., Author
Delle Chiaie, B., Author
Vanakker, O., Author
Menten, B., Author
Dheedene, A., Author
Bockaert, N., Author
Roelens, F., Author
Decaestecker, K., Author
Silva, J., Author
Soares, G., Author
Lopes, F., Author
Najmabadi, H., Author
Kahrizi, K., Author
Cox, G. F., AuthorAngus, S. P., AuthorStaropoli, J. F., AuthorFischer, U.2, Author              Suckow, V.2, Author              Bartsch, O., AuthorChess, A., AuthorRopers, H. H.1, Author              Wienker, T. F.3, Author              Hübner, C., AuthorKaindl, A. M., AuthorKalscheuer, V. M.4, Author               more..
Affiliations:
1Emeritus Group of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_2385695              
2Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              
3Clinical Genetics (Thomas F. Wienker), Emeritus Group of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_2385696              
4Chromosome Rearrangements and Disease (Vera Kalscheuer), Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_2385702              

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Free keywords: Abnormalities, Multiple/*genetics Adolescent Child Child, Preschool Female Humans Intellectual Disability/genetics Male Mediator Complex/*genetics Muscle Hypotonia/genetics Mutation/genetics Phenotype Syndrome Transposition of Great Vessels/genetics
 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.

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Language(s): eng - English
 Dates: 2015-03-152015-10
 Publication Status: Published in print
 Pages: 10
 Publishing info: -
 Table of Contents: -
 Rev. Method: -
 Identifiers: DOI: 10.1038/ejhg.2015.26
ISSN: 1476-5438 (Electronic)1018-4813 (Print)
 Degree: -

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Title: European journal of human genetics
  Other : Eur. J. Hum. Genet.
Source Genre: Journal
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Publ. Info: Nature Publishing Group
Pages: - Volume / Issue: 23 (10) Sequence Number: - Start / End Page: 1308 - 1317 Identifier: ISSN: 1018-4813
CoNE: /journals/resource/954925585277_1