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MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype
CHU Lille, France; Univ Lille, France.
Univ Lille, France; CHU Lille, France.
Hop Univ Strasbourg, France.
Grp Hosp Pitie Salpetriere, France.
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2018 (English)In: Neurogenetics, ISSN 1364-6745, E-ISSN 1364-6753, Vol. 19, no 2, p. 93-103Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
SPRINGER , 2018. Vol. 19, no 2, p. 93-103
Keywords [en]
MED13L; Intellectual disability; Mediator complex; Cardiopathy
National Category
Medical Genetics
Identifiers
URN: urn:nbn:se:liu:diva-148255DOI: 10.1007/s10048-018-0541-0ISI: 000432523600003PubMedID: 29511999OAI: oai:DiVA.org:liu-148255DiVA, id: diva2:1213380
Available from: 2018-06-04 Created: 2018-06-04 Last updated: 2019-05-02

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Gréen, Anna

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Gréen, AnnaStefanova, MargaritaSteinwall Larsen, S.
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CiteExportLink to record
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