ArticleAmerican journal of medical genetics. Part A2023
Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.
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Article in American journal of medical genetics. Part A, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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5 citing papers in PubMed, 6 citations in OpenAlex.
- Unveiling the Prevalence and Surgical Burden of Neurocristopathies: A Scoping Review and Statistical Analysis.Research square · 2026Article
- Thorough evaluation of a novel splice variant in a female patient with MED12-related intellectual disability.Neurogenetics · 2026Article
- Med13 is involved in the radial migration and contralateral projection of cortical neurons via PlxnA4.Communications biology · 2026Article
- MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability.American journal of medical genetics. Part A · 2025Article
- Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.American journal of medical genetics. Part A · 2023Article
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Authors and funding
31 authors at 13 institutions in 9 countries.
Nuno MaiaUnidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUPorto); Unit for Multidisciplinary Research In Biomedicine (UMIB), Institute of Biomedical Sciences Abel Salazar (ICBAS), and ITR - Laboratory for Integrative and Translational Research in Population Health, University of Porto, Porto, Portugal.ORCID https://orcid.org/0000-0003-3274-2474
Nekane IbarluzeaBiocruces Bizkaia Health Research Institute, Barakaldo, Spain.
Mala Misra-IsrieDepartment of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
Daniel C KoboldtSteve and Cindy Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.
Isabel MarquesUnidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUPorto); Unit for Multidisciplinary Research In Biomedicine (UMIB), Institute of Biomedical Sciences Abel Salazar (ICBAS), and ITR - Laboratory for Integrative and Translational Research in Population Health, University of Porto, Porto, Portugal.
Gabriela SoaresUnidade de Genética Médica, Centro de Genética Médica Doutor Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUPorto), Porto, Portugal.
Rosário SantosUnidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUPorto); Unit for Multidisciplinary Research In Biomedicine (UMIB), Institute of Biomedical Sciences Abel Salazar (ICBAS), and ITR - Laboratory for Integrative and Translational Research in Population Health, University of Porto, Porto, Portugal.
Carlo L M MarcelisDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
Riikka Keski-FilppulaDepartment of Clinical Genetics, Oulu University Hospital, Medical Research Center Oulu and PEDEGO Research Unit, University of Oulu, Oulu, Finland.
Miriam GuitartPaediatric Unit, ParcTaulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí, I3PTUniversitat Autònoma de Barcelona, Sabadell, Spain.
Elisabeth Gabau VilaPaediatric Unit, ParcTaulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí, I3PTUniversitat Autònoma de Barcelona, Sabadell, Spain.
April LehmanDepartment of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio, USA.
Scott HickeyDepartment of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio, USA.
Mari MoriDivision of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.ORCID https://orcid.org/0000-0001-6425-7137
Paulien TerhalDivision Laboratories, Pharmacy and Biomedical Genetics, Wilhelmina Children's Hospital, Utrecht, The Netherlands.ORCID https://orcid.org/0000-0002-4417-4307
Irene ValenzuelaDepartment of Clinical and Molecular Genetics, Vall d'Hebron University Hospital and Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain.ORCID https://orcid.org/0000-0003-2350-6058
Amaia Lasa-AranzastiDepartment of Clinical and Molecular Genetics, Vall d'Hebron University Hospital and Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain.
Anna Maria Cueto-GonzálezDepartment of Clinical and Molecular Genetics, Vall d'Hebron University Hospital and Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain.
Brian H ChhoukDivision of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts, USA.
Rebecca C YehDivision of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts, USA.
Jennifer E NeilDivision of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts, USA.
Bassam Abu-LibdeMakassed Hospital, Jerusalem, Israel.
Tjitske KleefstraDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
Mariet W EltingDepartment of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
Andrea CsászárPaediatric Ward, Hospital of Zala County, Zalaegerszeg, Hungary.
Judit KártesziGenetic Counselling, Hospital of Zala County, Zalaegerszeg, Hungary.
Beáta BessenyeiDivision of Clinical Genetics, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
Hans van BokhovenDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.ORCID https://orcid.org/0000-0002-2153-9254
Paula JorgeUnidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUPorto); Unit for Multidisciplinary Research In Biomedicine (UMIB), Institute of Biomedical Sciences Abel Salazar (ICBAS), and ITR - Laboratory for Integrative and Translational Research in Population Health, University of Porto, Porto, Portugal.
Johanna M van HagenDepartment of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
Arjan P M de BrouwerDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.ORCID https://orcid.org/0000-0002-2131-0484
Universidade do Porto · PTNationwide Children's Hospital · USRadboud University Nijmegen · NLAmsterdam University Medical Centers · NLBoston Children's Hospital · USHebron University · PSCounty Hospital · GBUniversitat Autònoma de Barcelona · ESAl-Makassed Islamic Charitable Society Hospital · ILBioCruces Health research Institute · ESOulu University Hospital · FIUniversity of Debrecen · HUWilhelmina Children's Hospital · NL
Funding
Joint Center for Mendelian GenomicsUM1HG008900 · NHGRI · BROAD INSTITUTE, INC. · PI O'DONNELL-LURIA, ANNE, REHM, HEIDI L · 2016 to 2020
$16.5MA powerful web-based discovery platform for rare disease geneticsR01HG009141 · NHGRI · BROAD INSTITUTE, INC. · PI QUINLAN, AARON R, REHM, HEIDI L · 2017 to 2020
$2.9MBroad InstituteFoundation for Science and Technology (FCT) UIDB/00215/2020 UIDP/00215/2020 LA/P/0064/2020NEI NIH HHSNHGRI NIH HHS R01 HG009141NHGRI NIH HHS UM1 HG008900
Abstract
We describe the phenotype of 22 male patients (20 probands) carrying a hemizygous missense variant in MED12. The phenotypic spectrum is very broad ranging from nonspecific intellectual disability (ID) to the three well-known syndromes: Opitz-Kaveggia syndrome, Lujan-Fryns syndrome, or Ohdo syndrome. The identified variants were randomly distributed throughout the gene (p = 0.993, χ
Indexed as
BlepharophimosisIntellectual DisabilityX-Linked Intellectual DisabilityHumansMaleMediator ComplexMutation, MissensePhenotypeSyndromeMED12 protein, humanMediator Complexgenotypeintellectual disabilityMED12phenotype
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