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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 07411naa a2201093 4500 | |
| 001 | oai:DiVA.org:liu-148255 | |
| 003 | SwePub | |
| 008 | 180604s2018 | |||||||||||000 ||eng| | |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-1482552 URI |
| 024 | 7 | a https://doi.org/10.1007/s10048-018-0541-02 DOI |
| 040 | a (SwePub)liu | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Smol, T.u CHU Lille, France; Univ Lille, France4 aut |
| 245 | 1 0 | a MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype |
| 264 | c 2018-03-06 | |
| 264 | 1 | b SPRINGER,c 2018 |
| 338 | a print2 rdacarrier | |
| 520 | a 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. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
| 653 | a MED13L; Intellectual disability; Mediator complex; Cardiopathy | |
| 700 | 1 | a Petit, F.u Univ Lille, France; CHU Lille, France4 aut |
| 700 | 1 | a Piton, A.u Hop Univ Strasbourg, France4 aut |
| 700 | 1 | a Keren, B.u Grp Hosp Pitie Salpetriere, France4 aut |
| 700 | 1 | a Sanlaville, D.u Hosp Civils Lyon, France4 aut |
| 700 | 1 | a Afenjar, A.u Hop Enfants Armand Trousseau, France4 aut |
| 700 | 1 | a Baker, S.u Childrens Hosp Philadelphia, PA 19104 USA4 aut |
| 700 | 1 | a Bedoukian, E. C.u Childrens Hosp Philadelphia, PA 19104 USA4 aut |
| 700 | 1 | a Bhoj, E. J.u Childrens Hosp Philadelphia, PA 19104 USA4 aut |
| 700 | 1 | a Bonneau, D.u CHU Angers, France4 aut |
| 700 | 1 | a Boudry-Labis, E.u CHU Lille, France4 aut |
| 700 | 1 | a Bouquillon, S.u CHU Lille, France4 aut |
| 700 | 1 | a Boute-Benejean, O.u Univ Lille, France; CHU Lille, France4 aut |
| 700 | 1 | a Caumes, R.u CHU Lille, France4 aut |
| 700 | 1 | a Chatron, N.u Hosp Civils Lyon, France4 aut |
| 700 | 1 | a Colson, C.u Univ Lille, France; CHU Lille, France4 aut |
| 700 | 1 | a Coubes, C.u CHU Montpellier, France4 aut |
| 700 | 1 | a Coutton, C.u CHU Grenoble Alpes, France4 aut |
| 700 | 1 | a Devillard, F.u CHU Grenoble Alpes, France4 aut |
| 700 | 1 | a Dieux-Coeslier, A.u Univ Lille, France; CHU Lille, France4 aut |
| 700 | 1 | a Doco-Fenzy, M.u CHU Reims, France4 aut |
| 700 | 1 | a Ewans, L. J.u Univ New South Wales, Australia4 aut |
| 700 | 1 | a Faivre, L.u CHU Dijon, France; CHU Dijon, France; Univ Bourgogne, France4 aut |
| 700 | 1 | a Fassi, E.u Washington Univ, MO 63110 USA4 aut |
| 700 | 1 | a Field, M.u Genet Learning Disabil Serv, Australia4 aut |
| 700 | 1 | a Fournier, C.u Hop Univ Strasbourg, France4 aut |
| 700 | 1 | a Francannet, C.u CHU Clermont Fernand, France4 aut |
| 700 | 1 | a Genevieve, D.u CHU Montpellier, France4 aut |
| 700 | 1 | a Giurgea, I.u Hop Trousseau, France4 aut |
| 700 | 1 | a Goldenberg, A.u CHU Rouen, France; CHU Rouen, France; Univ Rouen, France4 aut |
| 700 | 1 | a Gréen, Anna,d 1973-u Linköpings universitet,Avdelningen för cellbiologi,Medicinska fakulteten,Region Östergötland, Klinisk genetik4 aut0 (Swepub:liu)anner70 |
| 700 | 1 | a Guerrot, A. M.u CHU Rouen, France; Univ Rouen, France4 aut |
| 700 | 1 | a Heron, D.u Grp Hosp Pitie Salpetriere, France4 aut |
| 700 | 1 | a Isidor, B.u CHU Nantes, France4 aut |
| 700 | 1 | a Keena, B. A.u Childrens Hosp Philadelphia, PA 19104 USA4 aut |
| 700 | 1 | a Krock, B. L.u Childrens Hosp Philadelphia, PA 19104 USA4 aut |
| 700 | 1 | a Kuentz, P.u Univ Bourgogne, France4 aut |
| 700 | 1 | a Lapi, E.u Anna Meyer Childrens Univ Hosp, Italy4 aut |
| 700 | 1 | a Le Meur, N.u CHU Rouen, France; Univ Rouen, France4 aut |
| 700 | 1 | a Lesca, G.u Hosp Civils Lyon, France4 aut |
| 700 | 1 | a Li, D.u Childrens Hosp Philadelphia, PA 19104 USA4 aut |
| 700 | 1 | a Marey, I.u Grp Hosp Pitie Salpetriere, France4 aut |
| 700 | 1 | a Mignot, C.u Grp Hosp Pitie Salpetriere, France4 aut |
| 700 | 1 | a Nava, C.u Grp Hosp Pitie Salpetriere, France4 aut |
| 700 | 1 | a Nesbitt, A.u Childrens Hosp Philadelphia, PA 19104 USA4 aut |
| 700 | 1 | a Nicolas, G.u CHU Rouen, France; Univ Rouen, France4 aut |
| 700 | 1 | a Roche-Lestienne, C.u CHU Lille, France4 aut |
| 700 | 1 | a Roscioli, T.u Univ New South Wales, Australia4 aut |
| 700 | 1 | a Satre, V.u CHU Grenoble Alpes, Grenoble, France4 aut |
| 700 | 1 | a Santani, A.u Childrens Hosp Philadelphia, PA 19104 USA4 aut |
| 700 | 1 | a Stefanova, Margaritau Linköpings universitet,Avdelningen för cellbiologi,Medicinska fakulteten,Region Östergötland, Klinisk genetik4 aut0 (Swepub:liu)marst13 |
| 700 | 1 | a Steinwall Larsen, S.u Region Östergötland, Klinisk genetik4 aut0 (Swepub:liu)n/a |
| 700 | 1 | a Saugier-Veber, P.u CHU Rouen, France; Univ Rouen, France4 aut |
| 700 | 1 | a Picker-Minh, S.u Charite Univ Med Berlin, Germany4 aut |
| 700 | 1 | a Thuillier, C.u CHU Lille, France4 aut |
| 700 | 1 | a Verloes, A.u Hop Robert Debre, France4 aut |
| 700 | 1 | a Vieville, G.u CHU Grenoble Alpes, France4 aut |
| 700 | 1 | a Wenzel, M.u Clinical Genetics, Children’s Hospital of Philadelphia, Philadelphia, PA, USA4 aut |
| 700 | 1 | a Willems, M.u CHU Montpellier, France4 aut |
| 700 | 1 | a Whalen, S.u Grp Hosp Pitie Salpetriere, France4 aut |
| 700 | 1 | a Zarate, Y. A.u Univ Arkansas Med Sci, AR 72205 USA4 aut |
| 700 | 1 | a Ziegler, A.u CHU Angers, France4 aut |
| 700 | 1 | a Manouvrier-Hanu, S.u Univ Lille, France; CHU Lille, France4 aut |
| 700 | 1 | a Kalscheuer, V. M.u Max Planck Inst Mol Genet, Germany4 aut |
| 700 | 1 | a Gerard, B.u Hop Univ Strasbourg, France4 aut |
| 700 | 1 | a Ghoumid, Jamalu Univ Lille, France; CHU Lille, France4 aut |
| 710 | 2 | a CHU Lille, France; Univ Lille, Franceb Univ Lille, France; CHU Lille, France4 org |
| 773 | 0 | t Neurogeneticsd : SPRINGERg 19:2, s. 93-103q 19:2<93-103x 1364-6745x 1364-6753 |
| 856 | 4 | u https://pure.mpg.de/pubman/item/item_2556752_2/component/file_2558086/Smol.pdf |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-148255 |
| 856 | 4 8 | u https://doi.org/10.1007/s10048-018-0541-0 |
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