Functional characterization of the MED12 p.Arg1138Trp variant in females: implications for neural development and disease mechanism

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. The functional consequence of this genetic variant in disease is undetermined, and insight into disease mechanism is required.

Citation:
Shaw NC, Harrison S, Chen K, Forbes CA, Kuzminski E, Hedges M, Farley KO, Ward M, Loughman L, Poulton C, Baynam G, Lassmann T, Fear VS. Functional characterization of the MED12 p.Arg1138Trp variant in females: implications for neural development and disease mechanism. Molecular Medicine. 2025;31(1).

Keywords:
Functional genomics; Human neural disease model; MED12; Mediator complex; Patient-derived iPSCs; Rare disease; Ribogenesis.

Abstract:
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. The functional consequence of this genetic variant in disease is undetermined, and insight into disease mechanism is required.