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MED13L-related inte...
MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype
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- Smol, T. (author)
- CHU Lille, France; Univ Lille, France
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- Petit, F. (author)
- Univ Lille, France; CHU Lille, France
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- Piton, A. (author)
- Hop Univ Strasbourg, France
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- Keren, B. (author)
- Grp Hosp Pitie Salpetriere, France
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- Sanlaville, D. (author)
- Hosp Civils Lyon, France
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- Afenjar, A. (author)
- Hop Enfants Armand Trousseau, France
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- Baker, S. (author)
- Childrens Hosp Philadelphia, PA 19104 USA
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- Bedoukian, E. C. (author)
- Childrens Hosp Philadelphia, PA 19104 USA
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- Bhoj, E. J. (author)
- Childrens Hosp Philadelphia, PA 19104 USA
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- Bonneau, D. (author)
- CHU Angers, France
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- Boudry-Labis, E. (author)
- CHU Lille, France
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- Bouquillon, S. (author)
- CHU Lille, France
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- Boute-Benejean, O. (author)
- Univ Lille, France; CHU Lille, France
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- Caumes, R. (author)
- CHU Lille, France
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- Chatron, N. (author)
- Hosp Civils Lyon, France
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- Colson, C. (author)
- Univ Lille, France; CHU Lille, France
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- Coubes, C. (author)
- CHU Montpellier, France
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- Coutton, C. (author)
- CHU Grenoble Alpes, France
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- Devillard, F. (author)
- CHU Grenoble Alpes, France
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- Dieux-Coeslier, A. (author)
- Univ Lille, France; CHU Lille, France
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- Doco-Fenzy, M. (author)
- CHU Reims, France
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- Ewans, L. J. (author)
- Univ New South Wales, Australia
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- Faivre, L. (author)
- CHU Dijon, France; CHU Dijon, France; Univ Bourgogne, France
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- Fassi, E. (author)
- Washington Univ, MO 63110 USA
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- Field, M. (author)
- Genet Learning Disabil Serv, Australia
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- Fournier, C. (author)
- Hop Univ Strasbourg, France
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- Francannet, C. (author)
- CHU Clermont Fernand, France
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- Genevieve, D. (author)
- CHU Montpellier, France
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- Giurgea, I. (author)
- Hop Trousseau, France
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- Goldenberg, A. (author)
- CHU Rouen, France; CHU Rouen, France; Univ Rouen, France
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- Gréen, Anna, 1973- (author)
- Linköpings universitet,Avdelningen för cellbiologi,Medicinska fakulteten,Region Östergötland, Klinisk genetik
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- Guerrot, A. M. (author)
- CHU Rouen, France; Univ Rouen, France
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- Heron, D. (author)
- Grp Hosp Pitie Salpetriere, France
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- Isidor, B. (author)
- CHU Nantes, France
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- Keena, B. A. (author)
- Childrens Hosp Philadelphia, PA 19104 USA
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- Krock, B. L. (author)
- Childrens Hosp Philadelphia, PA 19104 USA
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- Kuentz, P. (author)
- Univ Bourgogne, France
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- Lapi, E. (author)
- Anna Meyer Childrens Univ Hosp, Italy
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- Le Meur, N. (author)
- CHU Rouen, France; Univ Rouen, France
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- Lesca, G. (author)
- Hosp Civils Lyon, France
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- Li, D. (author)
- Childrens Hosp Philadelphia, PA 19104 USA
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- Marey, I. (author)
- Grp Hosp Pitie Salpetriere, France
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- Mignot, C. (author)
- Grp Hosp Pitie Salpetriere, France
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- Nava, C. (author)
- Grp Hosp Pitie Salpetriere, France
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- Nesbitt, A. (author)
- Childrens Hosp Philadelphia, PA 19104 USA
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- Nicolas, G. (author)
- CHU Rouen, France; Univ Rouen, France
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- Roche-Lestienne, C. (author)
- CHU Lille, France
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- Roscioli, T. (author)
- Univ New South Wales, Australia
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- Satre, V. (author)
- CHU Grenoble Alpes, Grenoble, France
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- Santani, A. (author)
- Childrens Hosp Philadelphia, PA 19104 USA
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- Stefanova, Margarita (author)
- Linköpings universitet,Avdelningen för cellbiologi,Medicinska fakulteten,Region Östergötland, Klinisk genetik
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- Steinwall Larsen, S. (author)
- Region Östergötland, Klinisk genetik
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- Saugier-Veber, P. (author)
- CHU Rouen, France; Univ Rouen, France
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- Picker-Minh, S. (author)
- Charite Univ Med Berlin, Germany
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- Thuillier, C. (author)
- CHU Lille, France
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- Verloes, A. (author)
- Hop Robert Debre, France
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- Vieville, G. (author)
- CHU Grenoble Alpes, France
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- Wenzel, M. (author)
- Clinical Genetics, Children’s Hospital of Philadelphia, Philadelphia, PA, USA
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- Willems, M. (author)
- CHU Montpellier, France
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- Whalen, S. (author)
- Grp Hosp Pitie Salpetriere, France
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- Zarate, Y. A. (author)
- Univ Arkansas Med Sci, AR 72205 USA
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- Ziegler, A. (author)
- CHU Angers, France
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- Manouvrier-Hanu, S. (author)
- Univ Lille, France; CHU Lille, France
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- Kalscheuer, V. M. (author)
- Max Planck Inst Mol Genet, Germany
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- Gerard, B. (author)
- Hop Univ Strasbourg, France
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- Ghoumid, Jamal (author)
- Univ Lille, France; CHU Lille, France
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(creator_code:org_t)
- 2018-03-06
- 2018
- English.
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In: Neurogenetics. - : SPRINGER. - 1364-6745 .- 1364-6753. ; 19:2, s. 93-103
- Related links:
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https://pure.mpg.de/...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Subject headings
Close
- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- MED13L; Intellectual disability; Mediator complex; Cardiopathy
Publication and Content Type
- ref (subject category)
- art (subject category)
Find in a library
To the university's database
- By the author/editor
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Smol, T.
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Petit, F.
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Piton, A.
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Keren, B.
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Sanlaville, D.
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Afenjar, A.
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show more...
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Baker, S.
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Bedoukian, E. C.
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Bhoj, E. J.
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Bonneau, D.
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Boudry-Labis, E.
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Bouquillon, S.
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Boute-Benejean, ...
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Caumes, R.
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Chatron, N.
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Colson, C.
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Coubes, C.
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Coutton, C.
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Devillard, F.
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Dieux-Coeslier, ...
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Doco-Fenzy, M.
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Ewans, L. J.
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Faivre, L.
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Fassi, E.
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Field, M.
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Fournier, C.
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Francannet, C.
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Genevieve, D.
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Giurgea, I.
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Goldenberg, A.
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Gréen, Anna, 197 ...
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Guerrot, A. M.
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Heron, D.
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Isidor, B.
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Keena, B. A.
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Krock, B. L.
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Kuentz, P.
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Lapi, E.
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Le Meur, N.
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Lesca, G.
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Li, D.
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Marey, I.
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Mignot, C.
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Nava, C.
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Nesbitt, A.
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Nicolas, G.
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Roche-Lestienne, ...
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Roscioli, T.
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Satre, V.
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Santani, A.
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Stefanova, Marga ...
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Steinwall Larsen ...
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Saugier-Veber, P ...
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Picker-Minh, S.
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Thuillier, C.
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Verloes, A.
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Vieville, G.
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Wenzel, M.
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Willems, M.
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Whalen, S.
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Zarate, Y. A.
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Ziegler, A.
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Manouvrier-Hanu, ...
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Kalscheuer, V. M ...
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Gerard, B.
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Ghoumid, Jamal
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Neurogenetics
- By the university
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Linköping University