SCA THAP11

Anticip.Len. → OnsetLen. → Sev.Mot. → OnsetMot. → Sev.New
Disease ID
SCA
Gene ID
THAP11
Clinical Links
GARD
10748
MedGen
431598
Bioinformatical Links
TR-Atlas
TR142069
WebSTR hg38
8140025973136
WebSTR hg19
STR_540982

Disease

SCA
Name
Spinocerebellar ataxia
Inheritance
Autosomal dominant
Description
THAP11-caused SCA involves symptoms including gait ataxia, dysarthia, dysphagia, slow saccades, ptosis, and/or nystagmus1 .
Prevalence
Has been observed in Chinese families1,2 . Interruptions predisposing to expansion/disease appear to vary by ancestry3 .
Age of OnsetYears4  51
Age of Onset Details
Typical: 8-40 (small sample size); Range: 4-511 .

Locus

hg19
chr16:67876766-67876853
hg38
chr16:67842863-67842950
t2t
chr16:73638637-73638724
Details
Expansion (45-100 repeats) found in affected individuals from 2 families and not in 500 controls (benign range: 20-38 repeats)1 . Longer alleles were associated with earlier age of onset. For example, an individual with 100 repeats had age of onset at 4 years. CAA interruptions can reduce toxicity1 .
Mechanism
GoF
Polyglutamine expansion leading to gain of function toxicity1,4 .
Year
20231
Location in Gene
Exon 1
Gene Strand

Alleles

Ref. Motif
CAG
Pathogenic (ref.)
CAG
Pathogenic (gene)
AGC
BenignPathogenicUnits20  3845  100

References

Direct supporting references for info on this page.

1
CAG Repeat Expansion in THAP11 Is Associated with a Novel Spinocerebellar Ataxia.
Dandan,Tan, Cuijie,Wei, Zhao,Chen, Yu,Huang, Jianwen,Deng, Jingjing,Li, Yidan,Liu, Xinhua,Bao, Jin,Xu, Zhengmao,Hu, Suxia,Wang, Yanbin,Fan, Yizheng,Jiang, Ye,Wu, Yuan,Wu, Shuang,Wang, Panyan,Liu, Yuehua,Zhang, Zhixian,Yang, Yuwu,Jiang, Hong,Zhang, Daojun,Hong, Nanbert,Zhong, Hong,Jiang, Hui,Xiong
Movement disorders : official journal of the Movement Disorder Society · 2023-05-06
pmid:37148549
2
Expansion of the polyQ repeats in THAP11 forms intranuclear aggregation and causes cell G0/G1 arrest.
Rong-Hua,Yin, Yang,Li, Fan,Yang, Yi-Qun,Zhan, Miao,Yu, Chang-Hui,Ge, Wang-Xiang,Xu, Liu-Jun,Tang, Xiao-Hui,Wang, Biao,Chen, Yang,Yang, Jian-Jie,Li, Chang-Yan,Li, Xiao-Ming,Yang
Cell biology international · 2014-02-20
pmid:24677642
3
A Population-Wide Exploration of the THAP11 CAG Repeat Size and Structure in the 100,000 Genomes Project and UK Biobank.
Chris,Clarkson, Zhongbo,Chen, Clarissa,Rocca, Bharati,Jadhav, Kristina,Ibañez, Mina,Ryten, Andrew J,Sharp, Henry,Houlden, Arianna,Tucci
Movement disorders : official journal of the Movement Disorder Society · 2024-12-09
pmid:39651830
4
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)

SMARCA2 and THAP11: potential candidates for polyglutamine disorders as evidenced from polymorphism and protein-folding simulation studies.
Neeraj,Pandey, Uma,Mittal, Achal K,Srivastava, Mitali,Mukerji
Journal of human genetics · 2004-09-10
pmid:15368101