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Volume 16
Issue 2
10.3390/genes16020216
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Review

Mosaicism in Short Tandem Repeat Disorders: A Clinical Perspective

by
Rose M. Doss
1,
Susana Lopez-Ignacio
1,
Anna Dischler
1,
Laurel Hiatt
2,
Harriet Dashnow
3,
Martin W. Breuss
1,* and
Caroline M. Dias
1,4,*
1
Section of Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA
2
Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT 84132, USA
3
Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA
4
Section of Developmental Pediatrics, Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA
*
Authors to whom correspondence should be addressed.
Genes 2025, 16(2), 216; https://doi.org/10.3390/genes16020216
Submission received: 23 December 2024 / Revised: 6 February 2025 / Accepted: 10 February 2025 / Published: 13 February 2025
(This article belongs to the Special Issue Genomic Mosaicism in Human Development and Diseases)
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Abstract

Fragile X, Huntington disease, and myotonic dystrophy type 1 are prototypical examples of human disorders caused by short tandem repeat variation, repetitive nucleotide stretches that are highly mutable both in the germline and somatic tissue. As short tandem repeats are unstable, they can expand, contract, and acquire and lose epigenetic marks in somatic tissue. This means within an individual, the genotype and epigenetic state at these loci can vary considerably from cell to cell. This somatic mosaicism may play a key role in clinical pathogenesis, and yet, our understanding of mosaicism in driving clinical phenotypes in short tandem repeat disorders is only just emerging. This review focuses on these three relatively well-studied examples where, given the advent of new technologies and bioinformatic approaches, a critical role for mosaicism is coming into focus both with respect to cellular physiology and clinical phenotypes.
Keywords: genomic mosaicism; methylation mosaicism; short tandem repeats; FMR1; HTT; DMPK; fragile X; Huntington disease; myotonic dystrophy type 1 genomic mosaicism; methylation mosaicism; short tandem repeats; FMR1; HTT; DMPK; fragile X; Huntington disease; myotonic dystrophy type 1

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MDPI and ACS Style

Doss, R.M.; Lopez-Ignacio, S.; Dischler, A.; Hiatt, L.; Dashnow, H.; Breuss, M.W.; Dias, C.M. Mosaicism in Short Tandem Repeat Disorders: A Clinical Perspective. Genes 2025, 16, 216. https://doi.org/10.3390/genes16020216

AMA Style

Doss RM, Lopez-Ignacio S, Dischler A, Hiatt L, Dashnow H, Breuss MW, Dias CM. Mosaicism in Short Tandem Repeat Disorders: A Clinical Perspective. Genes. 2025; 16(2):216. https://doi.org/10.3390/genes16020216

Chicago/Turabian Style

Doss, Rose M., Susana Lopez-Ignacio, Anna Dischler, Laurel Hiatt, Harriet Dashnow, Martin W. Breuss, and Caroline M. Dias. 2025. "Mosaicism in Short Tandem Repeat Disorders: A Clinical Perspective" Genes 16, no. 2: 216. https://doi.org/10.3390/genes16020216

APA Style

Doss, R. M., Lopez-Ignacio, S., Dischler, A., Hiatt, L., Dashnow, H., Breuss, M. W., & Dias, C. M. (2025). Mosaicism in Short Tandem Repeat Disorders: A Clinical Perspective. Genes, 16(2), 216. https://doi.org/10.3390/genes16020216

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