Genotype-phenotypic association of heterozygous deletion of the TBX-6 gene in patients with congenital scoliosis
Introduction Congenital scoliosis is a multifactorial disease caused by abnormalities in vertebral development during embryogenesis. The TBX6 gene, located at locus 16p11.2, plays a key role in somitogenesis, and the heterozygous deletion is associated with the development of specific phenotypes o...
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| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Russian Ilizarov Scientific Center for Restorative Traumatology and Orthopaedics
2025-06-01
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| Series: | Гений oртопедии |
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| Summary: | Introduction Congenital scoliosis is a multifactorial disease caused by abnormalities in vertebral development
during embryogenesis. The TBX6 gene, located at locus 16p11.2, plays a key role in somitogenesis,
and the heterozygous deletion is associated with the development of specific phenotypes of congenital
scoliosis (TBX6-associated congenital scoliosis, TACS). Despite numerous studies on the role of TBX6
in the pathogenesis of congenital scoliosis, there is a paucity of data on the phenotypic manifestations
of heterozygous 16p11.2 deletion.
The objective was to identify and confirm the TACS phenotype being associated with 16p11.2 deletions
in the Russian patients.
Material and methods A single-center retrospective cohort study included 187 patients diagnosed
with congenital scoliosis treated at the Turner National Medical Research Center for Pediatric Orthopedics
and Traumatology between 2012 and 2021. Heterozygous deletion (16p11.2 region) were verified using
MQRT‑PCR. The deletion group consisted of 42 patients, and the control group included 145 probands. Clinical
and radiological findings were reviewed to identify localization, type and multiplicity of vertebral anomalies
and associated malformations. Descriptive statistics and Pearson's correlation coefficient were used for data
processing.
Results Heterozygous deletion of TBX6 was detected in 22.4 % of patients. The thoracic and lumbar spine
were common localizations, while involvement of the cervical spine was not identified in the deletion group.
Vertebral malformations were the most common anomaly in both study groups, but their prevalence was
higher among patients with TBX6 deletion (50 % vs. 43.4 %). Multiple spinal malformations were more
common in the deletion group (50 % vs. 35 %). Associated internal organ defects were less common in patients
with deletion (31 % vs. 43.4 %), while rib synostoses and Sprengel's disease were more common.
Discussion TACS is characterized by specific manifestations including multiple vertebral malformations
in the thoracic and lumbar spine, rib synostoses and Sprengel's disease, which is consistent with the scientific
literature.
Conclusion The findings indicate the need to include genetic testing for TBX6 deletion in the diagnostic
algorithm for congenital scoliosis to facilitate early detection and a personalized approach to treatment
of this cohort of patients. |
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| ISSN: | 1028-4427 2542-131X |