MED23-associated intellectual disability in a non-consanguineous family

作者：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^*

来源：American Journal of Medical Genetics, Part A, 2015, 167(6): 1374-1380.

DOI：10.1002/ajmg.a.37047

• intellectual disability (ID)
• MED23
• mediator complex
• whole exome sequencing (WES)

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.

• 出版日期2015-6