An intellectual disability‐associated missense variant in TRMT1 impairs tRNA modification and reconstitution of enzymatic activity

Abstract excerpt

The human TRMT1 gene encodes an RNA methyltransferase enzyme responsible for catalyzing dimethylguanosine (m2,2G) formation in transfer RNAs (tRNAs). Frameshift mutations in TRMT1 have been shown to cause autosomal-recessive intellectual disability (ID) in the human population but additional TRMT1 variants remain to be characterized. Here, we describe a homozygous TRMT1 missense variant in a patient displaying...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cardiac Structural Anomalies and Repair
• Share to Peptidase Inhibition and Analysis
• Share to RNA modifications and cancer