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

ABSTRACT:

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 de novo MED12 p.Arg1138Trp variant in a female patient and compared disease phenotypes with six female individuals identified in the literature. To investigate affected biological pathways, we derived two induced pluripotent stem cell (iPSC) lines from the patient: one expressing wildtype MED12 and the other expressing the MED12 p.Arg1138Trp variant. We performed neur

SUBMITTER: Shaw NC 

PROVIDER: S-EPMC12482371 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature