Ataxia and hypogonadotropic hypogonadism with intrafamilial variability caused by RNF216 mutation

  • Mohammed Alqwaifly | dr.qwaifly@hotmail.com Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Saeed Bohlega Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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.

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Published
2016-06-15
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Issue
Section
Case Reports
Keywords:
cerebellar ataxia, hypogonadotropic hypogonadism, RNF216, Gordon Holmes
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How to Cite
Alqwaifly, M., & Bohlega, S. (2016). Ataxia and hypogonadotropic hypogonadism with intrafamilial variability caused by RNF216 mutation. Neurology International, 8(2). https://doi.org/10.4081/ni.2016.6444