OPDM4 RILPL1

Benign alleles have been documented to have 6-16 repeats⁴, while pathogenic repeats range from 120 to 197 repeats; there is no apparent relationship between allele size and age of onset^4,2. Intermediate alleles amy be associated with incomplete penetrance, or milder phenotypes². AGG and TGG interruptions observed².

Mechanism

GoF

Polyglutamine expansion leading to RNA-mediated gain-of-function mechanism⁵.

Year

2022²

Location in Gene

5' UTR

Gene Strand

Alleles

Ref. Motif

GGC

Pathogenic (ref.)

GGC

Pathogenic (gene)

CCG

gnomAD

Pathogenic Genotype (%): % of individuals predicted to be affected based on their genotype

References

Direct supporting references for info on this page.

Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosis.

Elisa,Vegezzi, Hiroyuki,Ishiura, D Cristopher,Bragg, David,Pellerin, Francesca,Magrinelli, Riccardo,Currò, Stefano,Facchini, Arianna,Tucci, John,Hardy, Nutan,Sharma, Matt C,Danzi, Stephan,Zuchner, Bernard,Brais, Mary M,Reilly, Shoji,Tsuji, Henry,Houlden, Andrea,Cortese

The Lancet. Neurology · 2024-07-01

pmid:38876750

The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4.

Jiaxi,Yu, Jingli,Shan, Meng,Yu, Li,Di, Zhiying,Xie, Wei,Zhang, He,Lv, Lingchao,Meng, Yiming,Zheng, Yawen,Zhao, Qiang,Gang, Xueyu,Guo, Yang,Wang, Jianying,Xi, Wenhua,Zhu, Yuwei,Da, Daojun,Hong, Yun,Yuan, Chuanzhu,Yan, Zhaoxia,Wang, Jianwen,Deng

American journal of human genetics · 2022-02-10

pmid:35148830

GGC Repeat Expansion of RILPL1 is Associated with Oculopharyngodistal Myopathy.

Yi-Heng,Zeng, Kang,Yang, Gan-Qin,Du, Yi-Kun,Chen, Chun-Yan,Cao, Yu-Sen,Qiu, Jin,He, Hai-Dong,Lv, Qian-Qian,Qu, Jian-Nan,Chen, Guo-Rong,Xu, Long,Chen, Fu-Ze,Zheng, Miao,Zhao, Min-Ting,Lin, Wan-Jin,Chen, Jing,Hu, Zhi-Qiang,Wang, Ning,Wang

Annals of neurology · 2022-07-02

pmid:35700120

A large pedigree study confirmed the CGG repeat expansion of RILPL1 Is associated with oculopharyngodistal myopathy.

Xinzhuang,Yang, Dingding,Zhang, Si,Shen, Pidong,Li, Mengjie,Li, Jingwen,Niu, Dongrui,Ma, Dan,Xu, Shuangjie,Li, Xueyu,Guo, Zhen,Wang, Yanhuan,Zhao, Haitao,Ren, Chao,Ling, Yang,Wang, Yu,Fan, Jianxiong,Shen, Yicheng,Zhu, Depeng,Wang, Liying,Cui, Lin,Chen, Changhe,Shi, Yi,Dai

BMC medical genomics · 2023-10-20

pmid:37864208

Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications.

Indhu-Shree,Rajan-Babu, Egor,Dolzhenko, Michael A,Eberle, Jan M,Friedman

Nature reviews. Genetics · 2024-03-11

pmid:38467784

Additional Literature

Additional literature related to this locus.

Raw PubMed search results
(All PubMed results returned by searching for this gene, tandem repeats, and disease, in medline format)

CGG repeat expansions in Charcot-Marie-Tooth disease: insights from the 100 000 Genomes Project.

Alessandro,Bertini, Stefano,Facchini, Ilaria,Quartesan, Riccardo,Currò, Ricardo Parolin,Schnekenberg, Natalia,Dominik, Gustavo,Alves, Lucia,Ferullo, Arianna,Tucci, Henry,Houlden, Mary M,Reilly, Andrea,Cortese

Journal of neurology, neurosurgery, and psychiatry · 2025-07-11

pmid:40645757

A case report of oculopharyngodistal myopathy with 126 CGG repeat expansions in

Wenjing,Wang, Tielun,Yin, Xinyu,Zhang, Zhaoxia,Wang, Tianyun,Wang, Shuo,Zhang, Yingshuang,Zhang, Dongsheng,Fan

Frontiers in genetics · 2025-02-27

pmid:40084170

Clinical and pathological characteristics of OPDM4 patients in advanced disease.

Haixia,Tang, Ying,Xiong, Kaiyan,Jiang, Yu,Shen, Yanyan,Yu, Pengcheng,Huang, Min,Zhu, Xiaobing,Li, Yilei,Zheng, Meihong,Zhou, Jiaxi,Yu, Jianwen,Deng, Zhaoxia,Wang, Daojun,Hong, Yusen,Qiu, Dandan,Tan

Muscle & nerve · 2024-07-23

pmid:39044557

Linking LRP12 CGG repeat expansion to inherited peripheral neuropathy.

Takahiro,Hobara, Masahiro,Ando, Yujiro,Higuchi, Jun-Hui,Yuan, Akiko,Yoshimura, Fumikazu,Kojima, Yutaka,Noguchi, Jun,Takei, Yu,Hiramatsu, Satoshi,Nozuma, Tomonori,Nakamura, Tadashi,Adachi, Keiko,Toyooka, Toru,Yamashita, Yusuke,Sakiyama, Akihiro,Hashiguchi, Eiji,Matsuura, Yuji,Okamoto, Hiroshi,Takashima

Journal of neurology, neurosurgery, and psychiatry · 2025-01-16

pmid:39013564

Non-coding CGG repeat expansion in

Xinyu,Gu, Jiaxi,Yu, Kexin,Jiao, Jianwen,Deng, Xingyu,Xia, Kai,Qiao, Dongyue,Yue, Mingshi,Gao, Chongbo,Zhao, Jihong,Dong, Gongchun,Huang, Jingli,Shan, Chuanzhu,Yan, Li,Di, Yuwei,Da, Wenhua,Zhu, Jianying,Xi, Zhaoxia,Wang

Journal of medical genetics · 2024-03-21

pmid:37923380