Apr 07, 2022
zinc finger and BTB domain containing 40
The function of this gene is not well characterized; however, it is expressed in the bone and associated with both hip bone and spine bone mineral density (Styrkarsdottir et al. 2008).
NCBI Gene: 9923
Changes in this gene were 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 was found to carry the following genetic changes in the ZBTB40 gene:
Research is underway to see if these changes are causing symptoms in this participant.
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) was found to carry the following genetic change in the ZBTB40 gene:
Research is underway to see if this change is causing symptoms in this participant.
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