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Article

Whole-Exome Sequencing Identified a Novel Mutation in RNF216 in a Family with Gordon Holmes Syndrome.

Journal of molecular neuroscience : MN - 1 Apr 2022

Chen Ke-Liang, Wang He, Zhao Gui-Xian, Wei Lei, Huang Yu-Yuan, Chen Shi-Dong, Sun Jian, Dong Qiang, Cui Mei, Yu Jin-Tai

Abstract excerpt

Gordon Holmes syndrome (GHS) is a rare disease characterized by hypogonadotropic hypogonadism (HH), progressive cognitive decline and variable movement disorders. Mutations in RNF216 have been found to be associated with GHS. Here, we identify a novel homozygous RNF216 p.E650X mutation causing GHS. The proband presented with onset dysarthria and developed cerebellar ataxia and cognitive impairment, with a history...

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Identifiers

PMID: 35088240
DOI: 10.1007/s12031-021-01953-0

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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