Ataxia and hypogonadotropic hypogonadism with intrafamilial variability caused by RNF216 mutation

被引：27

作者：

Alqwaifly, Mohammed ^{[1
]}

Bohlega, Saeed ^{[1
]}

机构：

[1] King Faisal Specialist Hosp & Res Ctr, Dept Neurosci, POB 3354, Riyadh 11211, Saudi Arabia

来源：

NEUROLOGY INTERNATIONAL | 2016年 / 8卷 / 02期

关键词：

cerebellar ataxia; hypogonadotropic hypogonadism; RNF216; Gordon Holmes;

D O I：

10.4081/ni.2016.6444

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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 inter familial variability of phenotype supporting the previously reported RNF216 related cases.

引用

页码：1 / 3

页数：3

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