MED23-associated intellectual disability in a non-consanguineous family.

American journal of medical genetics. Part A 2015 Jun

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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.

Citation

Aditi Trehan, Jacqueline M Brady, Valerie Maduro, William P Bone, Yan Huang, Gretchen A Golas, Megan S Kane, Paul R Lee, Audrey Thurm, Andrea L Gropman, Scott M Paul, Gilbert Vezina, Thomas C Markello, William A Gahl, Cornelius F Boerkoel, Cynthia J Tifft. MED23-associated intellectual disability in a non-consanguineous family. American journal of medical genetics. Part A. 2015 Jun;167(6):1374-80