Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes
Copyright policy )Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes
AbstractWe 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, χ2 test), but mostly outside the functional domains (p = 0.004; χ2 test). Statistical analyses did not show a correlation between the MED12‐related phenotypes and the locations of the variants (p = 0.295; Pearson correlation), nor the protein domain involved (p = 0.422; Pearson correlation). In conclusion, establishing a genotype–phenotype correlation in MED12‐related diseases remains challenging. Therefore, we think that patients with a causative MED12 variant are currently underdiagnosed due to the broad patients' clinical presentations.
Male, Other subheadings::Other subheadings::Other subheadings::/genetics, phenotype, genotype, Mutation, Missense, Radboud University Medical Center, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación::mutación de sentido erróneo, Blepharophimosis, ENFERMEDADES::enfermedades del sistema nervioso::manifestaciones neurológicas::manifestaciones neuroconductuales::discapacidad intelectual, DISEASES::Nervous System Diseases::Neurologic Manifestations::Neurobehavioral Manifestations::Intellectual Disability, Otros calificadores::Otros calificadores::Otros calificadores::/genética, X-Linked Intellectual Disability, Intellectual Disability, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation::Mutation, Missense, Genetics, Humans, Genetics(clinical), Discapacitat intel·lectual - Aspectes genètics, Mediator Complex, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience, Original Articles, Syndrome, MED12, Anomalies cromosòmiques, Phenotype, intellectual disability
Male, Other subheadings::Other subheadings::Other subheadings::/genetics, phenotype, genotype, Mutation, Missense, Radboud University Medical Center, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación::mutación de sentido erróneo, Blepharophimosis, ENFERMEDADES::enfermedades del sistema nervioso::manifestaciones neurológicas::manifestaciones neuroconductuales::discapacidad intelectual, DISEASES::Nervous System Diseases::Neurologic Manifestations::Neurobehavioral Manifestations::Intellectual Disability, Otros calificadores::Otros calificadores::Otros calificadores::/genética, X-Linked Intellectual Disability, Intellectual Disability, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation::Mutation, Missense, Genetics, Humans, Genetics(clinical), Discapacitat intel·lectual - Aspectes genètics, Mediator Complex, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience, Original Articles, Syndrome, MED12, Anomalies cromosòmiques, Phenotype, intellectual disability
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