Rare missense variants in <i>FNDC1</i> are associated with severe adolescent idiopathic scoliosis
We broadened the phenotype associated with <i>RAF1</i> and <i>FBN1</i> variants and identified <i>FNDC1</i> as a novel gene associated with severe AIS. Mechanistic alterations of bone mineral density or joint hypermobility may explain the association of <i>FNDC1</i> missense variants with AIS.
Authors
- Mark A. Seeley (ORCID: https://orcid.org/0000-0002-9158-0674)
- Philip F. Giampietro (ORCID: https://orcid.org/0000-0003-2874-8064)
- Julia Whittle (ORCID: https://orcid.org/0000-0003-3559-9298)
- Gabe Haller (ORCID: https://orcid.org/0000-0002-3884-5776)
- Wu‐Lin Charng (ORCID: https://orcid.org/0000-0003-0661-4081)
- Momchil Nikolov
- Addison Avery
- Natasha T. Strande (ORCID: https://orcid.org/0000-0001-5148-9772)
- Anne E. Justice (ORCID: https://orcid.org/0000-0002-8903-8712)
- Carol A. Wise (ORCID: https://orcid.org/0000-0002-6790-2194)
- Cathy Raggio
- Matthew B. Dobbs (ORCID: https://orcid.org/0000-0002-1506-9962)
- Diane S. Sepich (ORCID: https://orcid.org/0000-0002-1269-9387)
- José A. Morcuende (ORCID: https://orcid.org/0000-0002-0688-085X)
- Dale L. Bodian
- Nancy H. Miller (ORCID: https://orcid.org/0000-0002-8107-3943)
- Christina A. Gurnett (ORCID: https://orcid.org/0000-0001-9129-315X)
Institutions
- University of Iowa (US)
- Hospital for Special Surgery (US)
- Washington University in St. Louis (US)
- University of Illinois Chicago (US)
- Scottish Rite Hospital (US)
- Geisinger Neuroscience Institute (US)
- University of Colorado Anschutz Medical Campus (US)
- Geisinger Health System (US)
Publication Details
- Journal
- Journal of Medical Genetics
- Published
- 2025-04-29
- DOI
- https://doi.org/10.1136/jmg-2024-110586
- Citations
- 1
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 1.82
Funders
- National Institute of Mental Health
- NIH Office of the Director
- National Institute of Arthritis and Musculoskeletal and Skin Diseases
- National Institute of Child Health and Human Development
- National Center for Research Resources
- National Center for Advancing Translational Sciences
- Eunice Kennedy Shriver National Institute of Child Health and Human Development