Molecular identification of T-box transcription factor 6 and prognostic assessment in patients with congenital scoliosis: A single-center study.

ABSTRACT:

Background

Congenital scoliosis (CS) is characterized by vertebral malformations. The precise etiology of CS is not fully defined. A compound inheritance of TBX6 was identified in 10% of patients with CS in Han Chinese and formed a distinguishable subtype named TBX6-associated congenital scoliosis (TACS).

Methods

To investigate the variants and risk haplotype of TBX6, we recruited 121 patients with CS at Beijing Children's Hospital. We collected the clinical characteristics and surgical treatment options and followed their postoperative prognoses.

Results

Eight patients (6.6%) were molecularly diagnosed with TACS and carried the previously defined pathogenic TBX6 compound heterozygous variants. All the eight patients with TACS had the typic

SUBMITTER: Zhang W 

PROVIDER: S-EPMC9403053 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature