Gordon Holmes Syndrome Caused by RNF216 Novel Mutation in 2 Argentinean Siblings

Abstract

Gordon Holmes syndrome (GHS) is the clinical association of ataxia and hypogonadism1 frequently encountered in patients with autosomal-recessive cerebellar ataxias. Mutations in genes, such as RNF216, OTUD4, STUB1, PNPLA6, and POL- R3A/3B/1C, are associated with ataxia and hypogonadism,2–6 but the patient’s observed phenotypes are generally wider than expected. Here, we report the case of 2 Argentinean siblings with GHS caused by a novel homozygous mutation in the RNF216 gene.