ArticleNature genetics2024
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus.
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Article in Nature genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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27citing papers in PubMed, 1 pooled it
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Spinocerebellar ataxia 27B (SCA27B)-a systematic review and a case report of a Polish family.Journal of applied genetics · 2025Pooled it
- Toward the clinical application of long-read sequencing in repeat-expansion disorders.Nature genetics · 2026Review
- Population-scale disease-associated tandem repeat analysis reveals locus and ancestry-specific insights.Nature communications · 2026Article
- Pathogenic CGG expansions in oculopharyngodistal myopathy exhibit distinct characteristics of each causative gene on the flanking sequences as well as methylation status.Genome medicine · 2026Article
- Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing.Brain : a journal of neurology · 2026Article
- Unrecognized high prevalence of expanded composite repeats in Friedreich ataxia.Human molecular genetics · 2026Article
- FGF14 repeat length and mosaic interruptions: modifiers of spinocerebellar ataxia 27B?Brain : a journal of neurology · 2025Article
- Unstable FGF14 GAA repeat expansions in Indian ataxia patients: a broader phenotype and involvement of modifier loci?Journal of human genetics · 2025Article
- Delineating the pathogenic threshold and phenotypic spectrum of SCA27B: findings from a large French-Canadian cohort.Journal of neurology · 2025Article
- Ocular Motor and Vestibular Profile in Spinocerebellar Ataxia Type 27B: Toward a Practical Bedside Diagnostic Framework.Cerebellum (London, England) · 2025Article
- Intronic FGF14 GAA repeat expansions impact progression and survival in multiple system atrophy.Brain : a journal of neurology · 2025Article
- Detection and characterization of rare variants in NOTCH2NLC causing false negative molecular diagnosis through long-read sequencing.European journal of human genetics : EJHG · 2025Article
- A haplotype-resolved view of human gene regulation.bioRxiv : the preprint server for biology · 2025Article
- Exploration of Neurodegenerative Diseases Using Long-Read Sequencing and Optical Genome Mapping Technologies.Movement disorders : official journal of the Movement Disorder Society · 2025Review
- FGF14 GAA Intronic Expansion in Unsolved Adult-Onset Ataxia in the Care4Rare Canada Consortium.Annals of clinical and translational neurology · 2025Article
- Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum.Brain : a journal of neurology · 2025Article
- High Prevalence of the Intronic GAA-Neurology. Genetics · 2025Article
- The ZFHX3 GGC Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral Founder.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- Detailed tandem repeat allele profiling in 1,027 long-read genomes reveals genome-wide patterns of pathogenicity.bioRxiv : the preprint server for biology · 2025Article
- Recent Advances in the Genetics of Ataxias: An Update on Novel Autosomal Dominant Repeat Expansions.Current neurology and neuroscience reports · 2025Review
Corrections and comments
- Update of
Authors and funding
42 authors.
David PellerinDepartment of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada.
Giulia F Del Gobbo *Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
Madeline Couse *Centre for Computational Medicine, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Egor Dolzhenko *Pacific Biosciences, Menlo Park, CA, USA.ORCID http://orcid.org/0000-0002-3296-0677
Sathiji K Nageshwaran *Department of Psychiatry, Department of Neuroscience and Department of Genetics and Genomic Sciences, Friedman Brain Institute Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0000-0003-3931-2573
Warren A Cheung *Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO, USA.ORCID http://orcid.org/0000-0003-0267-7464
Isaac R L Xu *Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Marie-Josée Dicaire *Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada.ORCID http://orcid.org/0009-0003-0938-1268
Guinevere SpurdensDr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Gabriel Matos-RodriguesLaboratory of Genome Integrity, National Cancer Institute, NIH, Bethesda, MD, USA.
Igor StevanovskiGenomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.ORCID http://orcid.org/0000-0002-7713-1979
Carolin K ScribaCentre for Medical Research University of Western Australia and Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia.ORCID http://orcid.org/0000-0001-9874-3846
Adriana RebeloDr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.ORCID http://orcid.org/0000-0001-5669-7415
Virginie RothLaboratoire de Génétique, CHRU de Nancy, Nancy, France.
Marion WandzelLaboratoire de Génétique, CHRU de Nancy, Nancy, France.
Céline BonnetLaboratoire de Génétique, CHRU de Nancy, Nancy, France.ORCID http://orcid.org/0000-0002-6799-0438
Catherine AshtonDepartment of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada.ORCID http://orcid.org/0000-0001-8042-6180
Aman AgarwalTisch Cancer Institute Bioinformatics for Next Generation Sequencing (BiNGS) Core, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0009-0005-5813-7047
Cyril PeterDepartment of Psychiatry, Department of Neuroscience and Department of Genetics and Genomic Sciences, Friedman Brain Institute Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0000-0001-9190-8724
Dan HassonTisch Cancer Institute Bioinformatics for Next Generation Sequencing (BiNGS) Core, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Nadejda M TsankovaDepartment of Pathology, Molecular and Cell-Based Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Ken DewarDepartment of Human Genetics, McGill University, Montreal, Quebec, Canada.
Phillipa J LamontDepartment of Neurology, Royal Perth Hospital, Perth, Western Australia, Australia.
Nigel G LaingCentre for Medical Research University of Western Australia and Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia.ORCID http://orcid.org/0000-0001-5111-3732
Mathilde RenaudLaboratoire de Génétique, CHRU de Nancy, Nancy, France.
Henry HouldenDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London, UK.ORCID http://orcid.org/0000-0002-2866-7777
Matthis SynofzikDivision of Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.ORCID http://orcid.org/0000-0002-2280-7273
Karen UsdinLaboratory of Cell and Molecular Biology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA.
Andre NussenzweigLaboratory of Genome Integrity, National Cancer Institute, NIH, Bethesda, MD, USA.
Marek NapieralaDepartment of Neurology, O'Donnell Brain Institute, University of Texas Southwestern Medical Center, Dallas, TX, USA.
Zhao ChenDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Hong JiangDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Ira W DevesonGenomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.ORCID http://orcid.org/0000-0003-3861-0472
Gianina RavenscroftCentre for Medical Research University of Western Australia and Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia.
Schahram AkbarianDepartment of Psychiatry, Department of Neuroscience and Department of Genetics and Genomic Sciences, Friedman Brain Institute Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0000-0001-7700-0891
Michael A EberlePacific Biosciences, Menlo Park, CA, USA.
Kym M BoycottChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
Tomi PastinenGenomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO, USA.ORCID http://orcid.org/0000-0003-4016-5021
All of Us Research Program Long Read Working Group
Bernard BraisDepartment of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada.ORCID http://orcid.org/0000-0003-1394-3561
Stephan ZuchnerDr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.ORCID http://orcid.org/0000-0002-8498-5235
Matt C DanziDr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA. m.danzi@med.miami.edu.ORCID http://orcid.org/0000-0003-1568-5965
Funding
Conduits: Mount Sinai Health System Translational Science HubUL1TR004419 · NCATS · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI Rosalind J Wright · 2022 to 2026
$46.4MTHE TISCH CANCER INSTITUTE - CANCER CENTER SUPPORT GRANTP30CA196521 · NCI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI Ramon E Parsons · 2015 to 2026
$35.4MUnderstanding the mutational mechanism responsible for the Repeat Expansion DiseasesZIADK057808 · NIDDK · NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES · PI USDIN, KAREN P. · 2009 to 2025
$14.1MGENOME STUDIES IN HEREDITARY SPASTIC PARAPLEGIA - beyond the exomeR01NS072248 · NINDS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI Stephan Zuchner · 2011 to 2026
$9.2MSingle Chromatin Fiber Sequencing and Longitudinal Epigenomic Profiling in HIV+ Brain Cells Exposed to Narcotic and StimulantDP1DA056018 · NIDA · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI Schahram Akbarian · 2022 to 2026
$5.9MResolving SARS-Cov-2 tropism and COVID19 pathology in the brainR01NS106229 · NINDS · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI Nadejda Mincheva Tsankova · 2019 to 2026
$3.5MCOVID and Translational Science supercomputer (CATS)S10OD030463 · OD · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI KOVATCH, PATRICIA · 2021 to 2021
$2.0MBig Omics Data Engine 2 SupercomputerS10OD026880 · OD · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI KOVATCH, PATRICIA · 2019 to 2019
$2.0MChromatin Plasticity, Transcriptional Activity and Kinetics in Developing and Adult Human Astrocyte and Oligodendroglial LineagesRF1DA048810 · NIDA · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI TSANKOVA, NADEJDA MINCHEVA · 2019 to 2019
$1.8MCreating an advanced multi-ancestral resource and tools for short tandem repeat analysis in the AOURP researcher workbenchR21HG013397 · NHGRI · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI DANZI, MATTHEW CHRISTOPHER, ZUCHNER, STEPHAN · 2023 to 2023
$422kDeutsche Forschungsgemeinschaft (German Research Foundation) 441409627Gouvernement du Canada | Canadian Institutes of Health Research (Instituts de Recherche en Santé du Canada) 189963Gouvernement du Canada | Canadian Institutes of Health Research (Instituts de Recherche en Santé du Canada) GP1-155867NCATS NIH HHS UL1 TR004419NCI NIH HHS P30 CA196521NHGRI NIH HHS R21 HG013397NIDA NIH HHS DP1 DA056018NIDA NIH HHS RF1 DA048810NIH HHS S10 OD026880NIH HHS S10 OD030463NINDS NIH HHS R01 NS072248NINDS NIH HHS R01 NS106229Ontario Genomics Institute (OGI) OGI-147U.S. Department of Health & Human Services | National Institutes of Health (NIH) P30CA196521U.S. Department of Health & Human Services | National Institutes of Health (NIH) S10OD026880U.S. Department of Health & Human Services | National Institutes of Health (NIH) S10OD030463U.S. Department of Health & Human Services | NIH | National Cancer Institute (NCI) HHSN261201500003U.S. Department of Health & Human Services | NIH | National Center for Advancing Translational Sciences (NCATS) UL1TR004419U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI) R21HG013397U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke (NINDS) 2R01NS072248-11A1U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke (NINDS) R01NS106229U.S. Department of Health & Human Services | NIH | National Institute on Drug Abuse (NIDA) DP1DA056018U.S. Department of Health & Human Services | NIH | National Institute on Drug Abuse (NIDA) RF1DA048810Wellcome Trust
Abstract
The factors driving or preventing pathological expansion of tandem repeats remain largely unknown. Here, we assessed the FGF14 (GAA)·(TTC) repeat locus in 2,530 individuals by long-read and Sanger sequencing and identified a common 5'-flanking variant in 70.34% of alleles analyzed (3,463/4,923) that represents the phylogenetically ancestral allele and is present on all major haplotypes. This common sequence variation is present nearly exclusively on nonpathogenic alleles with fewer than 30 GAA-pure triplets and is associated with enhanced stability of the repeat locus upon intergenerational transmission and increased Fiber-seq chromatin accessibility.
Indexed as
AllelesFibroblast Growth FactorsGenetic LociGenetic VariationHaplotypesHumansfibroblast growth factor 14Fibroblast Growth Factors
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