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Repeat Expansion Disease

MedGen UID:
1789040
•Concept ID:
C5447383
•
Disease or Syndrome
Synonyms: Expansion Repeat Disease; Expansion Repeat Disorder; Repeat Expansion Disorder

Definition

A class of genetic diseases that occur when microsatellite repeats expand beyond a threshold length. [from NCI]

Professional guidelines

PubMed

Genetic counseling and testing for Huntington's disease: A historical review.
Nance MA
Am J Med Genet B Neuropsychiatr Genet 2017 Jan;174(1):75-92. Epub 2016 May 13 doi: 10.1002/ajmg.b.32453. PMID: 27174011
EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders.
Biancalana V, Glaeser D, McQuaid S, Steinbach P
Eur J Hum Genet 2015 Apr;23(4):417-25. Epub 2014 Sep 17 doi: 10.1038/ejhg.2014.185. PMID: 25227148Free PMC Article
Clinical utility gene card for: Huntington's disease.
Saft C, Leavitt BR, Epplen JT
Eur J Hum Genet 2014 May;22(5) Epub 2013 Oct 9 doi: 10.1038/ejhg.2013.206. PMID: 24105375Free PMC Article

Recent clinical studies

Etiology

C9orf72 intermediate repeats are associated with corticobasal degeneration, increased C9orf72 expression and disruption of autophagy.
Cali CP, Patino M, Tai YK, Ho WY, McLean CA, Morris CM, Seeley WW, Miller BL, Gaig C, Vonsattel JPG, White CL 3rd, Roeber S, Kretzschmar H, Troncoso JC, Troakes C, Gearing M, Ghetti B, Van Deerlin VM, Lee VM, Trojanowski JQ, Mok KY, Ling H, Dickson DW, Schellenberg GD, Ling SC, Lee EB
Acta Neuropathol 2019 Nov;138(5):795-811. Epub 2019 Jul 20 doi: 10.1007/s00401-019-02045-5. PMID: 31327044Free PMC Article
Repeat Expansion Disease Models.
Ueyama M, Nagai Y
Adv Exp Med Biol 2018;1076:63-78. doi: 10.1007/978-981-13-0529-0_5. PMID: 29951815
Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing.
Ardui S, Race V, Zablotskaya A, Hestand MS, Van Esch H, Devriendt K, Matthijs G, Vermeesch JR
Hum Mutat 2017 Mar;38(3):324-331. Epub 2017 Jan 17 doi: 10.1002/humu.23150. PMID: 27883256
Selection pressure on human STR loci and its relevance in repeat expansion disease.
Shimada MK, Sanbonmatsu R, Yamaguchi-Kabata Y, Yamasaki C, Suzuki Y, Chakraborty R, Gojobori T, Imanishi T
Mol Genet Genomics 2016 Oct;291(5):1851-69. Epub 2016 Jun 11 doi: 10.1007/s00438-016-1219-7. PMID: 27290643
Evidence for chromosome fragility at the frataxin locus in Friedreich ataxia.
Kumari D, Hayward B, Nakamura AJ, Bonner WM, Usdin K
Mutat Res 2015 Nov;781:14-21. Epub 2015 Aug 30 doi: 10.1016/j.mrfmmm.2015.08.007. PMID: 26379101Free PMC Article

Diagnosis

DRED: A Comprehensive Database of Genes Related to Repeat Expansion Diseases.
Shi Q, Dai M, Ma Y, Liu J, Liu X, Wang XJ
Genomics Proteomics Bioinformatics 2024 Dec 3;22(5) doi: 10.1093/gpbjnl/qzae068. PMID: 39348154Free PMC Article
Mosaicism in Fragile X syndrome: A family case series.
Saldarriaga W, González-Teshima LY, Forero-Forero JV, Tang HT, Tassone F
J Intellect Disabil 2022 Sep;26(3):800-807. Epub 2021 May 17 doi: 10.1177/1744629521995346. PMID: 33998336
ATXN10 Microsatellite Distribution in a Peruvian Amerindian Population.
Véliz-Otani D, Inca-Martinez M, Bampi GB, Ortega O, Jardim LB, Saraiva-Pereira ML, Mazzetti P, Cornejo-Olivas M
Cerebellum 2019 Oct;18(5):841-848. doi: 10.1007/s12311-019-01057-x. PMID: 31342269
Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing.
Ardui S, Race V, Zablotskaya A, Hestand MS, Van Esch H, Devriendt K, Matthijs G, Vermeesch JR
Hum Mutat 2017 Mar;38(3):324-331. Epub 2017 Jan 17 doi: 10.1002/humu.23150. PMID: 27883256
Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum.
Cruts M, Gijselinck I, Van Langenhove T, van der Zee J, Van Broeckhoven C
Trends Neurosci 2013 Aug;36(8):450-9. Epub 2013 Jun 7 doi: 10.1016/j.tins.2013.04.010. PMID: 23746459

Prognosis

DRED: A Comprehensive Database of Genes Related to Repeat Expansion Diseases.
Shi Q, Dai M, Ma Y, Liu J, Liu X, Wang XJ
Genomics Proteomics Bioinformatics 2024 Dec 3;22(5) doi: 10.1093/gpbjnl/qzae068. PMID: 39348154Free PMC Article

Clinical prediction guides

Repeat expansion in a fragile X model is independent of double strand break repair mediated by Pol θ, RAD52, RAD54 or RAD54B.
Hayward BE, Kim GY, Miller CJ, McCann C, Lowery MG, Wood RD, Usdin K
Sci Rep 2025 Feb 11;15(1):5033. doi: 10.1038/s41598-025-87541-3. PMID: 39934227Free PMC Article
DRED: A Comprehensive Database of Genes Related to Repeat Expansion Diseases.
Shi Q, Dai M, Ma Y, Liu J, Liu X, Wang XJ
Genomics Proteomics Bioinformatics 2024 Dec 3;22(5) doi: 10.1093/gpbjnl/qzae068. PMID: 39348154Free PMC Article

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