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Missense variants in 22 males with intellectual disability : From nonspecific symptoms to complete syndromes / Maia, Nuno (University of Porto) ; Ibarluzea, Nekane (Instituto de Investigación Sanitaria Biocruces Bizkaia) ; Misra-Isrie, Mala (Vrije Universiteit Amsterdam) ; Koboldt, Daniel C. (The Ohio State University College of Medicine) ; Marques, Isabel (University of Porto) ; Soares, Gabriela (Centro Hospitalar de Trás-os-Montes e Alto douro) ; Santos, Rosário (University of Porto) ; Marcelis, Carlo L. M. (Radboud University Medical Center) ; Keski-Filppula, Riikka (Oulu University Hospital (Finlàndia)) ; Guitart, Míriam (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Gabau, Elisabeth (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Lehman, April (Nationwide Children's Hospital) ; Hickey, Scott (Nationwide Children's Hospital) ; Mori, Mari (Nationwide Children's Hospital) ; Terhal, Paulien (Wilhelmina Children's Hospital) ; Valenzuela, Irene (Hospital Universitari Vall d'Hebron) ; Lasa-Aranzasti, Amaia (Hospital Universitari Vall d'Hebron) ; Cueto-González, Anna Mª (Hospital Universitari Vall d'Hebron) ; Chhouk, Brian H. (Boston Children's Hospital (Boston, Estats Units d'Amèrica)) ; Yeh, Rebecca C. (Boston Children's Hospital (Boston, Estats Units d'Amèrica)) ; Neil, Jennifer E. (Boston Children's Hospital (Boston, Estats Units d'Amèrica)) ; Abu-Libde, Bassam (Makassed Hospital) ; Kleefstra, Tjitske (Radboud University Medical Center) ; Elting, Mariet W. (Vrije Universiteit Amsterdam) ; Császár, Andrea (Hospital of Zala County) ; Kárteszi, Judit (Hospital of Zala County) ; Bessenyei, Beáta (University of Debrecen) ; van Bokhoven, Hans (Radboud University Medical Center) ; Jorge, Paula (University of Porto) ; van Hagen, Johanna M. (Vrije Universiteit Amsterdam) ; de Brouwer, Arjan P. M. (Radboud University Medical Center) ; Universitat Autònoma de Barcelona
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. [...]
2022 - DOI (Digital Object Identifier)

10.1002/ajmg.a.63004
American Journal of Medical Genetics. Part a, Vol. 191 (october 2022) , p. 135-143

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