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

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

Abstract read

In one paragraph

Article in Frontiers in medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

Authors and funding

8 authors.

Wenyan ZhangBeijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, Beijing, China.

Ziming YaoDepartment of Orthopedics, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China.

Ruolan GuoBeijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, Beijing, China.

Haichong LiDepartment of Orthopedics, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China.

Shuang ZhaoBeijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, Beijing, China.

Wei LiBeijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, Beijing, China.

Xuejun ZhangDepartment of Orthopedics, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China.

Chanjuan HaoBeijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, Beijing, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Congenital scoliosis (CS) is characterized by vertebral malformations. The precise etiology of CS is not fully defined. A compound inheritance of Methods: To investigate the variants and risk haplotype of Results: Eight patients (6.6%) were molecularly diagnosed with TACS and carried the previously defined pathogenic 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 with prognosis for patients with TACS. This could provide valuable information for CS individuals with compound heterozygosity in

Indexed as

congenital scoliosis (CS)prognosisrare diseasesurgical treatmentT-box transcription factor 6 (TBX6)

Identifiers

PMID36035411

DOI10.3389/fmed.2022.941468

PMCPMC9403053

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