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首页> 外文期刊>Journal of orthopaedic research >Genetic variants of TBX6 and TBXT identified in patients with congenital scoliosis in Southern China
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Genetic variants of TBX6 and TBXT identified in patients with congenital scoliosis in Southern China

机译：中国先天脊柱病患者鉴定TBX6和TBXT的遗传变异

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摘要

Congenital scoliosis (CS) is a spinal deformity present at birth due to underlying congenital vertebral malformation (CVM) that occurs during embryonic development. Hemivertebrae is the most common anomaly that causes CS. Recently, compound heterozygosity inTBX6has been identified in Northern Chinese, Japanese, and European CS patient cohorts, which explains about 7%-10% of the affected population. In this report, we recruited 67 CS patients characterized with hemivertebrae in the Southern Chinese population and investigated theTBX6variant and risk haplotype. We found that two patients with hemivertebrae in the thoracic spine and one patient with hemivertebrae in the lumbar spine carry the previously defined pathogenicTBX6compound heterozygous variants. In addition, whole exome sequencing of patients with CS and their family members identified a de novo missense mutation (c.G47T: p.R16L) in another member of the T-box family,TBXT. This rare mutation compromised the binding of TBXT to its target sequence, leading to reduced transcriptional activity, and exhibited dominant-negative effect on wild-type TBXT. Our findings further highlight the importance of T-box family genes in the development of congenital scoliosis.
机译：先天性脊柱侧凸（CS）是一种先天性脊柱畸形（CVM），在胚胎发育过程中发生，在出生时出现。半椎体是最常见的导致CS的异常。最近，在中国北方、日本和欧洲CS患者队列中发现了复合杂合性INTBX6，这解释了约7%-10%的受影响人群。在本报告中，我们在中国南方人群中招募了67例以半椎体为特征的CS患者，并调查了TBX6变异体和风险单倍型。我们发现两名胸椎半椎体患者和一名腰椎半椎体患者携带先前定义的致病性BX6杂合变体。此外，对CS患者及其家庭成员进行的全外显子组测序发现，T-box家族的另一个成员TBXT中存在新发错义突变（c.G47T:p.R16L）。这种罕见的突变破坏了TBXT与其靶序列的结合，导致转录活性降低，并对野生型TBXT表现出显性负效应。我们的发现进一步强调了T-box家族基因在先天性脊柱侧凸发展中的重要性。

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