title: Ataxia and Hypogonadotropic Hypogonadism with Intrafamilial Variability Caused by RNF216 Mutation.
abstract: Gordon Holmes syndrome (GHS) is a distinct phenotype of autosomal recessive cerebellar ataxia, characterized by ataxia, dementia, reproductive defects and hypogonadism; it has been recently found to be associated with RNF216 mutation. We performed whole-exome sequencing and filtered the resulting novel variants by the coordinates of the shared autozygome. We identified a novel splicing variant in RNF216 that is likely to abolish the canonical splice site at the junction of exon/intron 13 (NM_207111.3:c.2061G>A). We herein report two patients with GHS caused by a novel RNF216 mutation as the first follow up report on RNF216-related GHS, and show interfamilial variability of phenotype supporting the previously reported RNF216-related cases.
authors.affiliation: Department of Neurosciences, King Faisal Specialist Hospital and Research Center Riyadh , Saudi Arabia.
authors.forename: Mohammed
authors.initials: M
authors.lastname: Alqwaifly
authors.affiliation: Department of Neurosciences, King Faisal Specialist Hospital and Research Center Riyadh , Saudi Arabia.
authors.forename: Saeed
authors.initials: S
authors.lastname: Bohlega
keywords: Gordon Holmes; RNF216; cerebellar ataxia; hypogonadotropic hypogonadism