Cerebellar Ataxia as a Common Clinical Presentation Associated with DNMT1 p.Y511H and a Review of the Literature

In this study, we report on the cases of a kindred carrying theDNMT1 variant NM_001130823.2:c.1531 T  >  C (p.Y511H) presenting with the ADCA-DN phenotype. The review of the literature further revealed that later ages at onset and the presence of cerebellar ataxia are the main characteristics of patients carrying the DNMT1 p.Y511H as compared with those carrying DNMT1 p.Y511C. Although HSAN1E and AD CA-DN are proposed to be called DNMT1-complex disorders owing to their overlapping symptoms, this finding suggests a distinct genotype–phenotype correlation regarding the DNMT1 p.Y511H and p.Y511C variants.
Source: Journal of Molecular Neuroscience - Category: Neuroscience Source Type: research