Correlation Engine 2.0
Clear Search sequence regions

  • ataxia (2)
  • cerebellar ataxia (1)
  • dementia (1)
  • exon (1)
  • intron (1)
  • patients (1)
  • RNF216 (6)
  • Sizes of these terms reflect their relevance to your search.

    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.


    Mohammed Alqwaifly, Saeed Bohlega. Ataxia and Hypogonadotropic Hypogonadism with Intrafamilial Variability Caused by RNF216 Mutation. Neurology international. 2016 Jun 15;8(2):6444

    PMID: 27441066

    View Full Text