GIPC1 CGG Repeat Expansion Is Associated with Movement Disorders

Objective CGG/GGC repeat expansion in FMR1 and NOTCH2NLC is reportedly associated with movement disorders; therefore, we hypothesized that the CGG repeat expansion in LRP12, NUTM2B‐AS1, and GIPC1, which was previously identified in myopathy, might also be associated with movement‐disorder phenotypes...

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Published in:Annals of neurology 2022-05, Vol.91 (5), p.704-715
Main Authors: Fan, Yu, Shen, Si, Yang, Jing, Yao, Dabao, Li, Mengjie, Mao, Chengyuan, Wang, Yunchao, Hao, Xiaoyan, Ma, Dongrui, Li, Jiadi, Shi, Jingjing, Guo, Mengnan, Li, Shuangjie, Yuan, Yanpeng, Liu, Fen, Yang, Zhihua, Zhang, Shuo, Hu, Zhengwei, Fan, Liyuan, Liu, Han, Zhang, Chan, Wang, Yanlin, Wang, Qingzhi, Zheng, Hong, He, Ying, Song, Bo, Xu, Yuming, Shi, Changhe
Format: Article
Language:English
Subjects:
Adaptor Proteins, Signal Transducing - genetics
Biopsy
Cognitive ability
Cohort Studies
Disorders
FMR1 protein
Fragile X Mental Retardation Protein - genetics
Humans
Inclusion bodies
Inclusions
Intranuclear Inclusion Bodies - pathology
Movement disorders
Movement Disorders - genetics
Muscular Dystrophies - genetics
Myopathy
Patients
Phenotypes
Substantia alba
Trinucleotide Repeat Expansion - genetics
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Summary:Objective CGG/GGC repeat expansion in FMR1 and NOTCH2NLC is reportedly associated with movement disorders; therefore, we hypothesized that the CGG repeat expansion in LRP12, NUTM2B‐AS1, and GIPC1, which was previously identified in myopathy, might also be associated with movement‐disorder phenotypes. Here, we investigated whether CGG repeat expansion in LRP12, NUTM2B‐AS1, and GIPC1 presents in a cohort of patients with movement disorders. Methods We screened for the CGG repeat expansion in LRP12, NUTM2B‐AS1, and GIPC1 in 1,346 movement‐disorder patients and 1,451 matched healthy controls. Results No patients or controls harbored expanded CGG repeats in LRP12 or NUTM2B‐AS1, whereas 16 patients harbored >40 CGG repeats in GIPC1, with 11 of these patients harboring >60 CGG repeats. One control individual harbored an expanded GIPC1 allele (83 CGG units), suggesting that approximately 1% of patients affected by movement disorders in our population might harbor GIPC1 CGG repeat expansion, with this likely extremely rare in healthy controls (
ISSN:0364-5134
1531-8249
DOI:10.1002/ana.26325