MED23-associated intellectual disability in a non-consanguineous family

Aditi Trehan; Jacqueline M. Brady; Valerie Maduro; William P. Bone; Yan Huang; Gretchen A. Golas; Megan S. Kane; Paul R. Lee; Audrey Thurm; Andrea L. Gropman; Scott M. Paul; Gilbert Vezina; Thomas C. Markello; William A. Gahl; Cornelius F. Boerkoel; Cynthia J. Tifft

doi:10.1002/ajmg.a.37047

MED23-associated intellectual disability in a non-consanguineous family

Aditi Trehan, Jacqueline M. Brady, Valerie Maduro, William P. Bone, Yan Huang, Gretchen A. Golas, Megan S. Kane, Paul R. Lee, Audrey Thurm, Andrea L. Gropman, Scott M. Paul, Gilbert Vezina, Thomas C. Markello, William A. Gahl, Cornelius F. Boerkoel, Cynthia J. Tifft

School of Medicine

Research output: Contribution to journal › Article › peer-review

11 Scopus citations

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.

Original language	English (US)
Pages (from-to)	1374-1380
Number of pages	7
Journal	American Journal of Medical Genetics, Part A
Volume	167
Issue number	6
DOIs	https://doi.org/10.1002/ajmg.a.37047
State	Published - Jun 1 2015

Keywords

Intellectual disability (ID)
MED23
Mediator complex
Whole exome sequencing (WES)

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1002/ajmg.a.37047

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Trehan, A., Brady, J. M., Maduro, V., Bone, W. P., Huang, Y., Golas, G. A., Kane, M. S., Lee, P. R., Thurm, A., Gropman, A. L., Paul, S. M., Vezina, G., Markello, T. C., Gahl, W. A., Boerkoel, C. F., & Tifft, C. J. (2015). MED23-associated intellectual disability in a non-consanguineous family. American Journal of Medical Genetics, Part A, 167(6), 1374-1380. https://doi.org/10.1002/ajmg.a.37047

Trehan, A, Brady, JM, Maduro, V, Bone, WP, Huang, Y, Golas, GA, Kane, MS, Lee, PR, Thurm, A, Gropman, AL, Paul, SM, Vezina, G, Markello, TC, Gahl, WA, Boerkoel, CF & Tifft, CJ 2015, 'MED23-associated intellectual disability in a non-consanguineous family', American Journal of Medical Genetics, Part A, vol. 167, no. 6, pp. 1374-1380. https://doi.org/10.1002/ajmg.a.37047

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AU - Paul, Scott M.

AU - Vezina, Gilbert

AU - Markello, Thomas C.

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MED23-associated intellectual disability in a non-consanguineous family

Abstract

Keywords

ASJC Scopus subject areas

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