Ataxia and hypogonadotropic hypogonadism with intrafamilial variability caused by RNF216 mutation

Neurology International. 2016;8(2) DOI 10.4081/ni.2016.6444

 

Journal Homepage

Journal Title: Neurology International

ISSN: 2035-8385 (Print); 2035-8377 (Online)

Publisher: PAGEPress Publications

LCC Subject Category: Medicine: Internal medicine: Neurosciences. Biological psychiatry. Neuropsychiatry: Neurology. Diseases of the nervous system

Country of publisher: Italy

Language of fulltext: English

Full-text formats available: PDF, HTML

 

AUTHORS

Mohammed Alqwaifly (Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Riyadh)
Saeed Bohlega (Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Riyadh)

EDITORIAL INFORMATION

Blind peer review

Editorial Board

Instructions for authors

Time From Submission to Publication: 10 weeks

 

Abstract | Full Text

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 <em>RNF216</em> 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 <em>RNF216</em> that is likely to abolish the canonical splice site at the junction of exon/intron 13 (NM_207111.3:c.2061G&gt;A). We herein report two patients with GHS caused by a novel <em>RNF216</em> mutation as the first follow up report on <em>RNF216</em>-related GHS, and <em>show</em> interfamilial variability of phenotype supporting the previously reported RNF216-related cases.