Oct 26, 2023
Nuclear Receptor Subfamily 3, Group C, Member 2
This gene encodes a receptor for both mineralocorticoids, such as aldosterone, and glucocorticoids, such as corticosterone or cortisol, and binds to mineralocorticoid response elements to transactivate target genes (Arriza et al., 1987).
A change in this gene was identified in two related UDN participants.
Participant 197, a 7-year-old female with childhood-onset chronic constipation, loss of bladder and bowel control (urinary incontinence and encopresis), and mild global developmental delay
Participant 200, a 38-year-old female with severe dysfunction of the autonomic nervous system (dysautonomia), sudden drops in blood pressure (vasovagal syncope), and loss of bladder control (neurogenic bladder)
Both participants were found to carry the same mutation. Research is underway to see if this change is causing symptoms in these participants.
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