Ontology highlight
ABSTRACT:
SUBMITTER: Trehan A
PROVIDER: S-EPMC5671761 | biostudies-literature | 2015 Jun
REPOSITORIES: biostudies-literature
Trehan Aditi A Brady Jacqueline M JM Maduro Valerie V Bone William P WP Huang Yan Y Golas Gretchen A GA Kane Megan S MS Lee Paul R PR Thurm Audrey A Gropman Andrea L AL Paul Scott M SM Vezina Gilbert G Markello Thomas C TC Gahl William A WA Boerkoel Cornelius F CF Tifft Cynthia J CJ
American journal of medical genetics. Part A 20150402 6
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-depende ...[more]