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On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.
Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.
A change in this gene was identified in a male, age 4 with involuntary movements (choreoathetosis), global developmental delay, epileptic encephalopathy, eye turning inward (alternating esotropia), episodic eye rolling, and low muscle tone in trunk (axial hypotonia) (read full description).
Jul 16, 2019
SPT6 homolog, histone chaperone and transcription elongation factor
The SUPT6H gene is a homologue to the SPT6 gene in yeast. It is assumed that it has similar functioning to the SPT6 gene, which regulates transcription and helps maintain chromatin structure (Chiang et al., 1996).
A change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.
Interested in learning more about this gene or sharing what you know? Contact us!