AUTHOR=Zhang Wenyan , Yao Ziming , Guo Ruolan , Li Haichong , Zhao Shuang , Li Wei , Zhang Xuejun , Hao Chanjuan 

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

JOURNAL=Frontiers in Medicine

VOLUME=Volume 9 - 2022

YEAR=2022

URL=https://www.frontiersin.org/journals/medicine/articles/10.3389/fmed.2022.941468

DOI=10.3389/fmed.2022.941468

ISSN=2296-858X

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 CS patients 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 CS patients 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 eight TACS patients had the typical TACS clinical feature of hemivertebrae in the lower part of the spine. These patients received posterior hemivertebra resection combined with segmental fusion. Follow-ups revealed satisfactory correction without postoperative complications.
CONCLUSION We observed a 6.6% prevalence of TACS in our CS cohort. Follow-ups further highlighted that surgical treatment of hemivertebra resection combined with segmental fusion performed well prognosis for TACS patients. This could provide valuable information for CS individuals with compound heterozygosity in TBX6.