The Role of COL11A2 in Pathogenesis and Diagnosis of Scoliosis: Case Report
Global Spine Congress 2026, İstanbul, Türkiye, 27 - 30 Mayıs 2026, cilt.16, sa.163, ss.562-563, (Tam Metin Bildiri)
- Yayın Türü: Bildiri / Tam Metin Bildiri
- Cilt numarası: 16
- Doi Numarası: 10.1177/219256822614358
- Basıldığı Şehir: İstanbul
- Basıldığı Ülke: Türkiye
- Sayfa Sayıları: ss.562-563
- Gazi Üniversitesi Adresli: Evet
Özet
Introduction: Scoliosis is a complex spinal deformity with multifactorial etiology involving genetic, environmental, and biomechanical factors. Increasing evidence highlights the role of collagen-related genes, particularly COL11A2, which encodes type XI collagen, crucial for extracellular matrix integrity. Mutations in COL11A2 have been implicated in skeletal dysplasias and may contribute to scoliosis pathogenesis. This study aimed to investigate potential genetic variants in two pairs of twins from different families who underwent different treatment strategies. Material and Methods: This retrospective study included two families, each consisting of twin sisters with scoliosis. Clinical diagnoses were established through physical and radiological examination. In Family 1, both twins underwent posterior instrumented spinal fusion. In Family 2, one twin underwent surgery, while the other was treated conservatively with a thoracolumbosacral orthosis (TLSO). All participants were subsequently referred for genetic evaluation. Genomic DNA was extracted from peripheral venous blood samples and sequenced using Twist Exome 2.0 (Twist Bioscience, USA) kits on a NextSeq1500 platform (Ilumina, USA). Reads were processed with Ilyome (Ilyome, Turkey), aligned to GRCh38, and variants called to VCF files. Variant classification followed ACMG and ACGS guidelines. Written informed consent was obtained from all participants. Results: In Family 1, both affected twin sisters were identified to carry a heterozygous COL11A2:c.4705C>G variant, classified as a variant of uncertain significance (VUS) with criteria PM2 and PP3. Both underwent posterior spinal fusion for scoliosis. In Family 2, two affected twin sisters carried a heterozygous COL11A2:c.2464A>T variant, also classified as a VUS (PM2). One twin underwent surgery, while the other was managed conservatively. No other pathogenic or likely pathogenic variants relevant to scoliosis were detected. In both families, the variants were consistently present in affected individuals. Conclusion: COL11A2 is a gene associated with the extracellular matrix and plays a physiological role in spine formation. Besides the multifactorial and polygenic background of scoliosis, previous studies have highlighted that musculoskeletal collagen genes, such as COL11A2, occupy a critical place within this polygenic framework. In line with the literature reporting that rare variants in COL11A2 may be implicated in the etiology of scoliosis, our study identified rare variants in this gene in four affected individuals from two unrelated families. These results may suggest the potential value of larger-scale genetic studies to clarify the role of collagen-related genes in the complex molecular architecture of scoliosis. Integration of genetic screening into clinical practice may enable earlier diagnosis, risk stratification, and personalized management strategies for scoliosis patients.