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  MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype

Smol, T., Petit, F., Piton, A., Keren, B., Sanlaville, D., Afenjar, A., et al. (2018). MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype. Neurogenetics, 1-11. doi:10.1007/s10048-018-0541-0.

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Item Permalink: http://hdl.handle.net/21.11116/0000-0000-CE26-E Version Permalink: http://hdl.handle.net/21.11116/0000-0000-CE27-D
Genre: Journal Article

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Smol, T., Author
Petit, F., Author
Piton, A., Author
Keren, B., Author
Sanlaville, D., Author
Afenjar, A., Author
Baker, S., Author
Bedoukian, E. C., Author
Bhoj, E. J., Author
Bonneau, D., Author
Boudry-Labis, E., Author
Bouquillon, S., Author
Boute-Benejean, O., Author
Caumes, R., Author
Chatron, N., Author
Colson, C., Author
Coubes, C., Author
Coutton, C., Author
Devillard, F., Author
Dieux-Coeslier, A., Author
Doco-Fenzy, M., AuthorEwans, L. J., AuthorFaivre, L., AuthorFassi, E., AuthorField, M., AuthorFournier, C., AuthorFrancannet, C., AuthorGenevieve, D., AuthorGiurgea, I., AuthorGoldenberg, A., AuthorGreen, A. K., AuthorGuerrot, A. M., AuthorHeron, D., AuthorIsidor, B., AuthorKeena, B. A., AuthorKrock, B. L., AuthorKuentz, P., AuthorLapi, E., AuthorLe Meur, N., AuthorLesca, G., AuthorLi, D., AuthorMarey, I., AuthorMignot, C., AuthorNava, C., AuthorNesbitt, A., AuthorNicolas, G., AuthorRoche-Lestienne, C., AuthorRoscioli, T., AuthorSatre, V., AuthorSantani, A., AuthorStefanova, M., AuthorSteinwall Larsen, S., AuthorSaugier-Veber, P., AuthorPicker-Minh, S., AuthorThuillier, C., AuthorVerloes, A., AuthorVieville, G., AuthorWenzel, M., AuthorWillems, M., AuthorWhalen, S., AuthorZarate, Y. A., AuthorZiegler, A., AuthorManouvrier-Hanu, S., AuthorKalscheuer, V. M.1, Author              Gerard, B., AuthorGhoumid, J., Author more..
Affiliations:
1Chromosome 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: Cardiopathy; Intellectual disability; MED13L; Mediator complex
 Abstract: Molecular anomalies in MED13L, leading to haploinsufficiency, have been reported in patients with moderate to severe intellectual disability (ID) and distinct facial features, with or without congenital heart defects. Phenotype of the patients was referred to "MED13L haploinsufficiency syndrome." Missense variants in MED13L were already previously described to cause the MED13L-related syndrome, but only in a limited number of patients. Here we report 36 patients with MED13L molecular anomaly, recruited through an international collaboration between centers of expertise for developmental anomalies. All patients presented with intellectual disability and severe language impairment. Hypotonia, ataxia, and recognizable facial gestalt were frequent findings, but not congenital heart defects. We identified seven de novo missense variations, in addition to protein-truncating variants and intragenic deletions. Missense variants clustered in two mutation hot-spots, i.e., exons 15-17 and 25-31. We found that patients carrying missense mutations had more frequently epilepsy and showed a more severe phenotype. This study ascertains missense variations in MED13L as a cause for MED13L-related intellectual disability and improves the clinical delineation of the condition.

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Language(s): eng - English
 Dates: 2018-03-06
 Publication Status: Published online
 Pages: -
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 Table of Contents: -
 Rev. Method: -
 Identifiers: DOI: 10.1007/s10048-018-0541-0
ISSN: 1364-6753 (Electronic)1364-6745 (Print)
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Title: Neurogenetics
  Other : Neurogenetics
Source Genre: Journal
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Publ. Info: Oxford, UK : Oxford University Press
Pages: - Volume / Issue: - Sequence Number: - Start / End Page: 1 - 11 Identifier: ISSN: 1364-6745
CoNE: /journals/resource/954927741865