Article
Functional characterization of the MED12 p.Arg1138Trp variant in females: implications for neural development and disease mechanism.
Molecular medicine (Cambridge, Mass.) - 29 Sept 2025
Shaw Nicole C, Harrison Saraya, Chen Kevin, Forbes Catherine A, Kuzminski Emma, Hedges Mitchell, Farley Kathryn O, Ward Michelle, Loughman Lily, Poulton Cathryn, Baynam Gareth, Lassmann Timo, Fear Vanessa S
Abstract excerpt
BACKGROUND: Seven female individuals with multiple congenital anomalies, developmental delay and/or intellectual disability have been found to have a genetic variant of uncertain significance in the mediator complex subunit 12 gene (MED12 c.3412C>T, p.Arg1138Trp). The functional consequence of this genetic variant in disease is undetermined, and insight into disease mechanism is required. METHODS: We identified a...
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- Humans
- Mediator Complex
- Female
- Induced Pluripotent Stem Cells
- Intellectual Disability