| Literature DB >> 25845469 |
Aditi Trehan1,2, Jacqueline M Brady1,2, Valerie Maduro1,2, William P Bone1,2, Yan Huang1,2, Gretchen A Golas1,2, Megan S Kane2, Paul R Lee3, Audrey Thurm4, Andrea L Gropman1,5, Scott M Paul6, Gilbert Vezina5, Thomas C Markello2, William A Gahl1,2, Cornelius F Boerkoel2, Cynthia J Tifft1,2.
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.Entities:
Keywords: MED23; intellectual disability (ID); mediator complex; whole exome sequencing (WES)
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Year: 2015 PMID： 25845469 PMCID： PMC5671761 DOI： 10.1002/ajmg.a.37047
Source DB: PubMed Journal: Am J Med Genet A ISSN： 1552-4825 Impact factor: 2.802