A novel variant in the HX repeat motif of ATN1 in a Chinese patient with CHEDDA syndrome and literature review.

This is the first described case of CHEDDA from China. Together with the available literature data, we found that either disruption of HX motif or alteration of the HX repeat number would lead to ATN1-associated CHEDDA. We also noted that CHEDDA is a clinical heterogenous syndrome, and patients carrying the same or similar variant might have different clinical manifestations and prognosis.