Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 167, Issue 6, Pages 1374-1380Publisher
WILEY-BLACKWELL
DOI: 10.1002/ajmg.a.37047
Keywords
intellectual disability (ID); MED23; mediator complex; whole exome sequencing (WES)
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Funding
- Intramural NIH HHS [ZIA HG000215-07] Funding Source: Medline
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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. (c) 2015 Wiley Periodicals, Inc.
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