Huntington-like disease caused by a novel RNF216/TRIAD3 pathogenic variant

Abstract

The main objective of this case report is the presentation of a novel homozygous pathogenic variant of the RNF216 gene in a male patient diagnosed with Gordon Holmes syndrome. The patient presented with dominant generalized chorea, ataxia, dysarthria, and less pronounced hypogonadism accompanied by cognitive decline and psychological disturbances, which is additionally accompanied by pronounced leukoencephalopathy and generalized brain atrophy. Whole exome sequencing showed a novel homozygous pathogenic variant RNF216 NM_207111.4:c .986 G>A, and the diagnosis of Gordon Holmes syndrome was established. The new pathogenic variant of the RNF216 gene discovered in our patient is one of the few in the world that leads to this clinical presentation of the disease.