ArticleNeurogenetics2018
MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.
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Article in Neurogenetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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23citing papers in PubMed
3.3field-weighted citation impact, top 8% of its field
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Who cites it
23 citing papers in PubMed, 42 citations in OpenAlex.
- Unveiling ocular developmental disorders through short-read whole-genome sequencing.European journal of human genetics : EJHG · 2026Article
- Heterozygous Med13l mice recapitulate a developmental growth delay and craniofacial anomalies seen in MED13L syndrome.Developmental dynamics : an official publication of the American Association of Anatomists · 2026Article
- Expansion of the Phenotypic and Genotypic Spectrum of MED13L-Associated Neurodevelopmental Disorder: A Case Report and Literature Review.Molecular genetics & genomic medicine · 2026Review
- Genetic analysis in fetuses with isolated clubfoot: diagnostic insights and added value.European journal of human genetics : EJHG · 2026Article
- Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).European journal of human genetics : EJHG · 2025Article
- MED13L-related disorder characterized by severe motor speech impairment.Journal of neurodevelopmental disorders · 2025Article
- Contribution of families using the GenIDA database to the description of MED13L syndrome and literature review.Journal of neurodevelopmental disorders · 2025Review
- Case Report: Novel mutations in two patients withFrontiers in genetics · 2025Article
- Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.Brain : a journal of neurology · 2023Article
- Molecular and Functional Characterisation of a Novel Intragenic 12q24.21 Deletion Resulting inMedicina (Kaunas, Lithuania) · 2023Article
- Genome-Wide Sequencing Modalities for Children with Unexplained Global Developmental Delay and Intellectual Disabilities-A Narrative Review.Children (Basel, Switzerland) · 2023Review
- Genetic Aspects of Small for Gestational Age Infants Using Targeted-Exome Sequencing and Whole-Exome Sequencing: A Single Center Study.Journal of clinical medicine · 2022Article
- Article
- Transcription Pause and Escape in Neurodevelopmental Disorders.Frontiers in neuroscience · 2022Review
- TheJournal of mother and child · 2021Article
- Review
- Potential roles of mediator Complex Subunit 13 in Cardiac Diseases.International journal of biological sciences · 2021Review
- Somatic andFrontiers in cell and developmental biology · 2021Article
- Report of a de novo c.2605C > T (p.Pro869Ser) change in the MED13L gene and review of the literature for MED13L-related intellectual disability.Italian journal of pediatrics · 2020Review
- Preservation of neurons in an AD 79 vitrified human brain.PloS one · 2020Article
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Authors and funding
66 authors at 20 institutions in 6 countries.
T SmolInstitut de Génétique Médicale, Hôpital Jeanne de Flandre, CHU Lille, Lille, France.
F PetitUniversity of Lille, EA 7364-RADEME, Lille, France.
A PitonLaboratoire de diagnostic génétique, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
B KerenDépartement de Génétique, Groupe Hospitalier Pitié-Salpêtrière, AP-HP, Paris, France.
D SanlavilleService de Génétique, Hospices Civils de Lyon, Lyon, France.
A AfenjarService de Génétique, Hôpital d'Enfants Armand-Trousseau, AP-HP, Paris, France.
S BakerDepartment of Pathology Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
E C BedoukianRoberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
E J BhojDepartment of Pathology Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
D BonneauService de Génétique, CHU d'Angers, Angers, France.
E Boudry-LabisInstitut de Génétique Médicale, Hôpital Jeanne de Flandre, CHU Lille, Lille, France.
S BouquillonInstitut de Génétique Médicale, Hôpital Jeanne de Flandre, CHU Lille, Lille, France.
O Boute-BenejeanUniversity of Lille, EA 7364-RADEME, Lille, France.
R CaumesService de Génétique Clinique, Hôpital Jeanne de Flandre, CHU Lille, avenue Eugène Avinée, Lille, France.
N ChatronService de Génétique, Hospices Civils de Lyon, Lyon, France.
C ColsonUniversity of Lille, EA 7364-RADEME, Lille, France.
C CoubesDépartement de Génétique Médicale, CHU Montpellier, Montpellier, France.
C CouttonLaboratoire de Génétique Chromosomique, CHU Grenoble Alpes, Grenoble, France.
F DevillardLaboratoire de Génétique Chromosomique, CHU Grenoble Alpes, Grenoble, France.
A Dieux-CoeslierUniversity of Lille, EA 7364-RADEME, Lille, France.
M Doco-FenzyService de Génétique, EA3801, SFR-CAP Santé, CHU de Reims, Reims, France.
L J EwansSt Vincent's Clinical School, University of New South Wales, Darlinghurst, New South Wales, Australia.
L FaivreCentre de Génétique et Centre de Référence Maladies Rares 'Anomalies du Développement, CHU Dijon, Dijon, France.
E FassiDivision of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.
M FieldThe Genetics of Learning Disability Service, Waratah, New South Wales, Australia.
C FournierLaboratoire de diagnostic génétique, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
C FrancannetService de Génétique Médicale, CHU de Clermont-Ferrand, Clermont-Ferrand, France.
D GenevieveDépartement de Génétique Médicale, CHU Montpellier, Montpellier, France.
I GiurgeaService de Génétique, Hôpital Trousseau, AP-HP, Paris, France.
A GoldenbergService de Génétique et Inserm U1079, Centre Normand de Génomique Médicale et Médecine Personnalisée, CHU de Rouen, Inserm et Université de Rouen, Rouen, France.
A K GreenDepartment of Clinical Genetics, University Hospital Linköping, Linköping, Sweden.
A M GuerrotService de Génétique et Inserm U1079, Centre Normand de Génomique Médicale et Médecine Personnalisée, CHU de Rouen, Inserm et Université de Rouen, Rouen, France.
D HeronDépartement de Génétique, Groupe Hospitalier Pitié-Salpêtrière, AP-HP, Paris, France.
B IsidorService de Génétique Médicale, Unité de Génétique Clinique, CHU de Nantes, Nantes, France.
B A KeenaClinical Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
B L KrockDepartment of Pathology Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
P KuentzEquipe GAD, UMR INSERM 1231, Université de Bourgogne, Dijon, France.
E LapiMedical Genetics Unit, Anna Meyer Children's University Hospital, Florence, Italy.
N Le MeurService de Génétique et Inserm U1079, Centre Normand de Génomique Médicale et Médecine Personnalisée, CHU de Rouen, Inserm et Université de Rouen, Rouen, France.
G LescaService de Génétique, Hospices Civils de Lyon, Lyon, France.
D LiDepartment of Pathology Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
I MareyDépartement de Génétique, Groupe Hospitalier Pitié-Salpêtrière, AP-HP, Paris, France.
C MignotDépartement de Génétique, Groupe Hospitalier Pitié-Salpêtrière, AP-HP, Paris, France.
C NavaDépartement de Génétique, Groupe Hospitalier Pitié-Salpêtrière, AP-HP, Paris, France.
A NesbittDepartment of Pathology Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
G NicolasService de Génétique et Inserm U1079, Centre Normand de Génomique Médicale et Médecine Personnalisée, CHU de Rouen, Inserm et Université de Rouen, Rouen, France.
C Roche-LestienneInstitut de Génétique Médicale, Hôpital Jeanne de Flandre, CHU Lille, Lille, France.
T RoscioliSt Vincent's Clinical School, University of New South Wales, Darlinghurst, New South Wales, Australia.
V SatreLaboratoire de Génétique Chromosomique, CHU Grenoble Alpes, Grenoble, France.
A SantaniDepartment of Pathology Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
M StefanovaDepartment of Clinical Genetics, University Hospital Linköping, Linköping, Sweden.
S Steinwall LarsenDepartment of Clinical Genetics, University Hospital Linköping, Linköping, Sweden.
P Saugier-VeberService de Génétique et Inserm U1079, Centre Normand de Génomique Médicale et Médecine Personnalisée, CHU de Rouen, Inserm et Université de Rouen, Rouen, France.
S Picker-MinhDepartment of Pediatric Neurology, Charité-Universitätsmedizin Berlin, Berlin, Germany.
C ThuillierInstitut de Génétique Médicale, Hôpital Jeanne de Flandre, CHU Lille, Lille, France.
A VerloesUnité Fonctionnelle de Génétique Clinique, Hôpital Robert Debré, AP-HP, Paris, France.
G VievilleLaboratoire de Génétique Chromosomique, CHU Grenoble Alpes, Grenoble, France.
M WenzelClinical Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
M WillemsDépartement de Génétique Médicale, CHU Montpellier, Montpellier, France.
S WhalenDépartement de Génétique, Groupe Hospitalier Pitié-Salpêtrière, AP-HP, Paris, France.
Y A ZarateSection of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
A ZieglerService de Génétique, CHU d'Angers, Angers, France.
S Manouvrier-HanuUniversity of Lille, EA 7364-RADEME, Lille, France.
V M KalscheuerResearch Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.
B GerardLaboratoire de diagnostic génétique, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Jamal GhoumidUniversity of Lille, EA 7364-RADEME, Lille, France. jamal.ghoumid@chru-lille.fr.
Children's Hospital of Philadelphia · USAssistance Publique – Hôpitaux de Paris · FRHôpital Jeanne de Flandre · FRCentre Hospitalier Universitaire de Grenoble · FRHôpitaux Universitaires de Strasbourg · FRHospices Civils de Lyon · FRInserm · FRLinköping University Hospital · SEUNSW Sydney · AUCentre Hospitalier Universitaire d'Angers · FRCentre Hospitalier Universitaire de Lille · FRCentre Hospitalier Universitaire de Rouen · FRInstitut de Biologie de Lille · FRSorbonne Université · FRUniversité de Lille · FRCentre de recherche Translationnelle en Médecine moléculaire · FRCentre Hospitalier Universitaire de Clermont-Ferrand · FRCentre Hospitalier Universitaire de Montpellier · FRCentre Hospitalier Universitaire de Nantes · FRCharité - Universitätsmedizin Berlin · DE
Funding
No grant is acknowledged in the PubMed record.
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.
Indexed as
ChildChild, PreschoolFemaleHumansIntellectual DisabilityMaleMediator ComplexMutation, MissensePhenotypeMED13L protein, humanMediator ComplexCardiopathyIntellectual disabilityMED13LMediator complex
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