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

@article{Trehan2015MED23associatedID,
  title={MED23-associated intellectual disability in a non-consanguineous family.},
  author={Aditi Trehan and Jacqueline M Brady and Valerie V. B. Maduro and William Bone and Yan Huang and Gretchen A. Golas and M. Steven Kane and Paul R Lee and Audrey Thurm and Andrea Gropman and Steven M. Paul and Gilbert Vezina and Thomas C Markello and William A Gahl and Cornelius F. Boerkoel and Cynthia J Tifft},
  journal={American journal of medical genetics. Part A},
  year={2015},
  volume={167 6},
  pages={
          1374-80
        }
}
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… CONTINUE READING
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