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Neurology International
Volume 8
Issue 2
10.4081/ni.2016.6444
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Neurology International is published by MDPI from Volume 12 Issue 3 (2020). Previous articles were published by another publisher in Open Access under a CC-BY licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with PAGEPress.
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Case Report

Ataxia and Hypogonadotropic Hypogonadism with Intrafamilial Variability Caused by RNF216 Mutation

by
Mohammed Alqwaifly
* and
Saeed Bohlega
Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
*
Author to whom correspondence should be addressed.
Neurol. Int. 2016, 8(2), 6444; https://doi.org/10.4081/ni.2016.6444
Submission received: 2 February 2016 / Revised: 2 February 2016 / Accepted: 9 February 2016 / Published: 15 June 2016

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.
Keywords: cerebellar ataxia; hypogonadotropic hypogonadism; RNF216; Gordon Holmes cerebellar ataxia; hypogonadotropic hypogonadism; RNF216; Gordon Holmes

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MDPI and ACS Style

Alqwaifly, M.; Bohlega, S. Ataxia and Hypogonadotropic Hypogonadism with Intrafamilial Variability Caused by RNF216 Mutation. Neurol. Int. 2016, 8, 6444. https://doi.org/10.4081/ni.2016.6444

AMA Style

Alqwaifly M, Bohlega S. Ataxia and Hypogonadotropic Hypogonadism with Intrafamilial Variability Caused by RNF216 Mutation. Neurology International. 2016; 8(2):6444. https://doi.org/10.4081/ni.2016.6444

Chicago/Turabian Style

Alqwaifly, Mohammed, and Saeed Bohlega. 2016. "Ataxia and Hypogonadotropic Hypogonadism with Intrafamilial Variability Caused by RNF216 Mutation" Neurology International 8, no. 2: 6444. https://doi.org/10.4081/ni.2016.6444

APA Style

Alqwaifly, M., & Bohlega, S. (2016). Ataxia and Hypogonadotropic Hypogonadism with Intrafamilial Variability Caused by RNF216 Mutation. Neurology International, 8(2), 6444. https://doi.org/10.4081/ni.2016.6444

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