Skip to content
DraconiticResearch
Search Sources API
194,161 studies31 sourcesUpdated 41 min ago
Peer-reviewedCC BYFrontiers in genetics

Genetic prevalence of repeat expansion and other rare neurological disorders in the Quebec population

  • Annelie De Mori1
  • Marjorie Labrecque2
  • Valérie Triassi2
  • Sebastien Audet2
  • Justin Pelletier3
  • Abbe Lai4
  • Roberta La Piana4
  • Antoine Duquette2
  • Claude Bhérer3
  • Martine Tetreault2
4 affiliations
  1. 1Department of Biochemistry and Molecular Medicine, Université de Montréal , , ,
  2. 2Centre de recherche du Centre Hospitalier de l’Université de Montréal (CRCHUM), Université de Montréal , , ,
  3. 3Department of Human Genetics, McGill CERC Program in Genomic Medicine, Victor Phillip Dahdaleh Institute of Genomic Medicine at McGill University , , ,
  4. 4Department of Neurology and Neurosurgery, Montreal Neurological Institute-Hospital, McGill University , , ,
Read full textPDFDOICite

Abstract

Background: Repeat expansion disorders (REDs) are a class of genetic disease, most of which cause neurological or neurodevelopmental phenotypes. Recent improvements in repetitive sequence detection suggest that REDs are collectively more common than previous estimates. Several REDs occur in Quebec at exceptional frequencies, due to founder effects which have shaped the province’s genetic landscape. Because these disorders are clinically heterogeneous and difficult to diagnose, their true prevalence in the province remains largely unknown.

Methods: By using whole-genome, exome, and RNA-sequencing data from CARTaGENE (CaG), a prospective Quebec population-based cohort, we characterized 13 RED loci as well as two genes associated to non-repeat neurological disorders, autosomal recessive cerebellar ataxia type 1 (ARCA1) and hereditary spastic paraplegia 11 (HSP11).

Results: We estimated carrier and expansion frequencies of premutation and full expansion alleles, finding that FXN, DMPK and FGF14 exhibited the highest values in Quebec. Assuming Hardy-Weinberg equilibrium, we calculated a genetic prevalence of 55.28 per 100,000 for SCA27B, a disorder for which prevalence estimates are lacking. Several additional REDs’ genetic prevalences were estimated up to 6.5 times higher than previously reported figures, indicating possible underdiagnosis or incomplete penetrance. Other RED genetic prevalences in CaG remained comparable to reported values, indicating that the founder effect acts on specific loci rather than across all repeat expansions. These findings highlight the REDs for which clinical resources should be prioritized in the province. Candidate founder variants associated with ARCA1 and HSP11 were identified by an enrichment analysis comparing CaG allele frequencies to the gnomAD Non-Finnish European cohort, and we report province-wide genetic prevalence estimates for both conditions.

Conclusion: Using CaG’s sequencing data, we established a genetic profile of rare neurological disorders in Quebec. These results provide valuable information for the development of genetic screening and diagnosis strategies for rare neurological diseases.

Related

  1. Simultaneous multi-task assessment of five neurological language disorders via cross-corpus multimodal learning
    Byounghwa Lee, Hwa Jeon Song, Byung Ok Kang
    Scientific ReportsPeer-reviewedCC BY-NC-ND 4.0Full textNeuroscienceCrossref
  2. Roles of endogenous retrovirus- and other LTR retrotransposon-derived proteins and peptides in neurological disorders, oncogenesis, and host defense
    Noi Saitoh, Ryo Yanagiya, Yi Cong +1
    Genes & Genetic SystemsPeer-reviewedCC BYFull textPlant biologyJ-STAGE
  3. A motor endurance assay for zebrafish larvae: proof of principle in chemical and genetic models of neurological disease
    N. A. S. Oliveira, L. Pereira Lima, M. Duque +3
    bioRxivPreprintAll rights reservedFull textNeurosciencebioRxiv
  4. When the Cytoskeleton Fails: Primary Structural Defects Underlying Disorders with Neurological Involvement
    Gerasimos Terzopoulos, Evangelos Axarloglou, Evangelie Sintou +6
    International Journal of Molecular SciencesPeer-reviewedCC BY 4.0Full textNeuroscienceCrossrefEurope PMC
  5. Glymphatic system impairment in neurological disorders: potential mechanisms and therapeutic targets
    Nannan Wang, Z.H. Liu, Yong Wang +2
    Molecular BiomedicinePeer-reviewedCC BYFull text5 citedNeuroscienceOpenAlex

Cite

BibTeXRIS
BibTeX
@article{mori2026genetic,
  title = {{Genetic prevalence of repeat expansion and other rare neurological disorders in the Quebec population}},
  author = {Annelie De Mori and Marjorie Labrecque and Valérie Triassi and Sebastien Audet and Justin Pelletier and Abbe Lai and Roberta La Piana and Antoine Duquette and Claude Bhérer and Martine Tetreault},
  journal = {Frontiers in genetics},
  year = {2026},
  month = oct,
  doi = {10.3389/fgene.2026.1964104},
  url = {https://europepmc.org/article/PMC/PMC13730467},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - Genetic prevalence of repeat expansion and other rare neurological disorders in the Quebec population
AU  - Annelie De Mori
AU  - Marjorie Labrecque
AU  - Valérie Triassi
AU  - Sebastien Audet
AU  - Justin Pelletier
AU  - Abbe Lai
AU  - Roberta La Piana
AU  - Antoine Duquette
AU  - Claude Bhérer
AU  - Martine Tetreault
PY  - 2026
DA  - 2026/10/21
JO  - Frontiers in genetics
DO  - 10.3389/fgene.2026.1964104
UR  - https://europepmc.org/article/PMC/PMC13730467
AB  - Background: Repeat expansion disorders (REDs) are a class of genetic disease, most of which cause neurological or neurodevelopmental phenotypes. Recent improvements in repetitive sequence detection suggest that REDs are collectively more common than previous estimates. Several REDs occur in Quebec at exceptional frequencies, due to founder effects which have shaped the province’s genetic landscape. Because these disorders are clinically heterogeneous and difficult to diagnose, their true prevalence in the province remains largely unknown.  Methods: By using whole-genome, exome, and RNA-sequencing data from CARTaGENE (CaG), a prospective Quebec population-based cohort, we characterized 13 RED loci as well as two genes associated to non-repeat neurological disorders, autosomal recessive cerebellar ataxia type 1 (ARCA1) and hereditary spastic paraplegia 11 (HSP11).  Results: We estimated carrier and expansion frequencies of premutation and full expansion alleles, finding that FXN, DMPK and FGF14 exhibited the highest values in Quebec. Assuming Hardy-Weinberg equilibrium, we calculated a genetic prevalence of 55.28 per 100,000 for SCA27B, a disorder for which prevalence estimates are lacking. Several additional REDs’ genetic prevalences were estimated up to 6.5 times higher than previously reported figures, indicating possible underdiagnosis or incomplete penetrance. Other RED genetic prevalences in CaG remained comparable to reported values, indicating that the founder effect acts on specific loci rather than across all repeat expansions. These findings highlight the REDs for which clinical resources should be prioritized in the province. Candidate founder variants associated with ARCA1 and HSP11 were identified by an enrichment analysis comparing CaG allele frequencies to the gnomAD Non-Finnish European cohort, and we report province-wide genetic prevalence estimates for both conditions.  Conclusion: Using CaG’s sequencing data, we established a genetic profile of rare neurological disorders in Quebec. These results provide valuable information for the development of genetic screening and diagnosis strategies for rare neurological diseases.
SN  - 1664-8021
ER  -