Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations
Our findings demonstrate that one in seven cases classified as idiopathic may have an underlying monogenic cause. This study underscores the polygenic and heterogeneous nature of IS and highlights the need for genetic testing by integrating WES and SNP array analyses into its diagnostic workflow. Our findings suggest that incorporating genetic testing into the diagnostic evaluation of severe IS patients may enable personalized genetic counseling and, consequently, improve clinical management.
Authors
- Marek Rocławski (ORCID: https://orcid.org/0000-0001-7348-7217)
- Piotr Madanecki (ORCID: https://orcid.org/0000-0003-1111-3695)
- Monika Horbacz (ORCID: https://orcid.org/0000-0003-1644-2957)
- Jakub Mieczkowski (ORCID: https://orcid.org/0000-0002-2091-012X)
- Rafał Pankowski (ORCID: https://orcid.org/0000-0002-6594-2643)
- Karolina Śledzińska (ORCID: https://orcid.org/0000-0001-6565-4572)
- Magdalena Koczkowska (ORCID: https://orcid.org/0000-0001-9451-8027)
- Jan Piotr Dumanski (ORCID: https://orcid.org/0000-0002-1489-1452)
- Marcin Ceynowa (ORCID: https://orcid.org/0000-0003-0850-6041)
- Daniil Sarkisyan (ORCID: https://orcid.org/0000-0002-2451-4386)
- Arkadiusz Piotrowski
Institutions
- Uppsala University (SE)
- Gdańsk Medical University (PL)
Publication Details
- Journal
- Frontiers in Medicine
- Published
- 2025-10-24
- DOI
- https://doi.org/10.3389/fmed.2025.1646415
- Primary Topic
- Scoliosis diagnosis and treatment
- Type
- article
- Field-Weighted Citation Impact
- 0.00