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Cited by 300

The DOI matches its Crossref record; 40 of the 40 references it cites were found in a registry or an index.

TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis

Open access
Wu, Nan, Ming, Xuan, Xiao, Jianqiu, Wu, Zhihong, Chen, Xiaoli, Shinawi, Marwan, Shen, Yiping, Yu, Guangju, Liu, Jiaqi, Xie, Hua, Gucev, Zoran S., Liu, Sen, Yang, Nan, Al-Kateb, Hussam, Chen, Jun, Zhang, Jian, Hauser, Natalie, Zhang, Ting, Tasic, Velibor, Liu, Pengfei, Su, Xinlin, Pan, Xuedong, Liu, Chunyu, Wang, Liwen, Shen, Joseph, Shen, Jianxiong, Chen, Yulin, Zhang, Ting, Zhang, Jianguo, Choy, Kwong Wai, Wang, Jun, Wang, Qiqi, Li, Shugang, Zhou, Weichen, Guo, Jin, Wang, Yipeng, Zhang, Cheng, Zhao, Hong, An, Yu, Zhao, Yu, Wang, Jiucun, Liu, Zhenlei, Zuo, Yuzhi, Tian, Ye, Weng, Xisheng, Sutton, V. Reid, Wang, Hongyan, Ming, Yue, Kulkarni, Shashikant, Zhong, Tao P., Giampietro, Philip F., Dunwoodie, Sally L., Cheung, Sau Wai, Zhang, Xue, Jin, Li, Lupski, James R., Qiu, Guixing, Zhang, Feng·2015·New England Journal of Medicine
DOI 10.1056/nejmoa1406829
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Abstract

BACKGROUND: Congenital scoliosis is a common type of vertebral malformation. Genetic susceptibility has been implicated in congenital scoliosis. METHODS: We evaluated 161 Han Chinese persons with sporadic congenital scoliosis, 166 Han Chinese controls, and 2 pedigrees, family members of which had a 16p11.2 deletion, using comparative genomic hybridization, quantitative polymerase-chain-reaction analysis, and DNA sequencing. We carried out tests of replication using an additional series of 76 Han Chinese persons with congenital scoliosis and a multicenter series of 42 persons with 16p11.2 deletions. RESULTS: We identified a total of 17 heterozygous TBX6 null mutations in the 161 persons with sporadic congenital scoliosis (11%); we did not observe any null mutations in TBX6 in 166 controls (P<3.8×10(-6)). These null alleles include copy-number variants (12 instances of a 16p11.2 deletion affecting TBX6) and single-nucleotide variants (1 nonsense and 4 frame-shift mutations). However, the discordant intrafamilial phenotypes of 16p11.2 deletion carriers suggest that heterozygous TBX6 null mutation is insufficient to cause congenital scoliosis. We went on to identify a common TBX6 haplotype as the second risk allele in all 17 carriers of TBX6 null mutations (P<1.1×10(-6)). Replication studies involving additional persons with congenital scoliosis who carried a deletion affecting TBX6 confirmed this compound inheritance model. In vitro functional assays suggested that the risk haplotype is a hypomorphic allele. Hemivertebrae are characteristic of TBX6-associated congenital scoliosis. CONCLUSIONS: Compound inheritance of a rare null mutation and a hypomorphic allele of TBX6 accounted for up to 11% of congenital scoliosis cases in the series that we analyzed. (Funded by the National Basic Research Program of China and others.).

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Authors
Wu, N., Ming, X., Xiao, J., Wu, Z., Chen, X., Shinawi, M., Shen, Y., Yu, G., Liu, J., Xie, H., Gucev, Z. S., Liu, S., Yang, N., Al-Kateb, H., Chen, J., Zhang, J., Hauser, N., Zhang, T., Tasic, V., Liu, P., Su, X., Pan, X., Liu, C., Wang, L., Shen, J., Shen, J., Chen, Y., Zhang, T., Zhang, J., Choy, K. W., Wang, J., Wang, Q., Li, S., Zhou, W., Guo, J., Wang, Y., Zhang, C., Zhao, H., An, Y., Zhao, Y., Wang, J., Liu, Z., Zuo, Y., Tian, Y., Weng, X., Sutton, V. R., Wang, H., Ming, Y., Kulkarni, S., Zhong, T. P., Giampietro, P. F., Dunwoodie, S. L., Cheung, S. W., Zhang, X., Jin, L., Lupski, J. R., Qiu, G., & Zhang, F.
Venue
New England Journal of Medicine
Publisher
Massachusetts Medical Society
Published
2015-01-22
Volume
372
Issue
4
Pages
341-350
ISSN
  • 0028-4793 (ISSN-L)
  • 1533-4406
DOI
10.1056/nejmoa1406829
OpenAlex
W2059707376
Cited by
300
References
40
FWCI
22.42
Type
journal article
Language
en
Open access
bronze

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CoChat. (2026). Citation check: TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis. https://app.cochat.ai/papers/10.1056/nejmoa1406829
The paper
Wu, N., Ming, X., Xiao, J., Wu, Z., Chen, X., Shinawi, M., Shen, Y., Yu, G., Liu, J., Xie, H., Gucev, Z. S., Liu, S., Yang, N., Al-Kateb, H., Chen, J., Zhang, J., Hauser, N., Zhang, T., Tasic, V., . . . Zhang, F. (2015). TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis. New England Journal of Medicine. https://doi.org/10.1056/nejmoa1406829

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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.