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• W2108764350 abstract "Intellectual disability (ID) is a heterogeneous condition arising from a variety of environmental and genetic factors. Among these causes are defects in transcriptional regulators. Herein, we report on two brothers in a nonconsanguineous family with novel compound heterozygous, disease-segregating mutations (NM_015979.3: [3656A > G];[4006C > T], NP_057063.2: [H1219R];[R1336X]) in MED23. This gene encodes a subunit of the Mediator complex that modulates the expression of RNA polymerase II-dependent genes. These brothers, who had profound ID, spasticity, congenital heart disease, brain abnormalities, and atypical electroencephalography, represent the first case of MED23-associated ID in a non-consanguineous family. They also expand upon the clinical features previously reported for mutations in this gene. © 2015 Wiley Periodicals, Inc." @default.
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• W2108764350 date "2015-04-02" @default.
• W2108764350 modified "2023-09-25" @default.
• W2108764350 title "<i>MED23</i>-associated intellectual disability in a non-consanguineous family" @default.
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• W2108764350 doi "https://doi.org/10.1002/ajmg.a.37047" @default.
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