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MED23 ‐associated intellectual disability in a non‐consanguineous family
Author(s) -
Trehan Aditi,
Brady Jacqueline M.,
Maduro Valerie,
Bone William P.,
Huang Yan,
Golas Gretchen A.,
Kane Megan S.,
Lee Paul R.,
Thurm Audrey,
Gropman Andrea L.,
Paul Scott M.,
Vezina Gilbert,
Markello Thomas C.,
Gahl William A.,
Boerkoel Cornelius F.,
Tifft Cynthia J.
Publication year - 2015
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37047
Subject(s) - intellectual disability , genetics , gene , biology , disease , compound heterozygosity , spasticity , mutation , medicine , physical therapy
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.