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Article: Genetic variants of TBX6 and TBXT identified in patients with congenital scoliosis in Southern China

TitleGenetic variants of TBX6 and TBXT identified in patients with congenital scoliosis in Southern China
Authors
Keywordscongenital scoliosis
congenital vertebral malformation (CVM)
hemivertebrae
TBX6
TBXT
Issue Date2020
PublisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)1554-527X
Citation
Journal of Orthopaedic Research, 2020, Epub 2020-07-16 How to Cite?
AbstractCongenital 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 in TBX6 has 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 the TBX6 variant 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 pathogenic TBX6 compound 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.
Persistent Identifierhttp://hdl.handle.net/10722/284513
ISSN
2023 Impact Factor: 2.1
2023 SCImago Journal Rankings: 0.886
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorFENG, X-
dc.contributor.authorCheung, JPY-
dc.contributor.authorJe, JSH-
dc.contributor.authorCheung, PWH-
dc.contributor.authorChen, S-
dc.contributor.authorYUE, M-
dc.contributor.authorWang, N-
dc.contributor.authorChoi, VNT-
dc.contributor.authorYang, X-
dc.contributor.authorSong, YQ-
dc.contributor.authorLuk, KDK-
dc.contributor.authorGao, B-
dc.date.accessioned2020-08-07T08:58:43Z-
dc.date.available2020-08-07T08:58:43Z-
dc.date.issued2020-
dc.identifier.citationJournal of Orthopaedic Research, 2020, Epub 2020-07-16-
dc.identifier.issn0736-0266-
dc.identifier.urihttp://hdl.handle.net/10722/284513-
dc.description.abstractCongenital 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 in TBX6 has 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 the TBX6 variant 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 pathogenic TBX6 compound 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.-
dc.languageeng-
dc.publisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)1554-527X-
dc.relation.ispartofJournal of Orthopaedic Research-
dc.rightsPreprint This is the pre-peer reviewed version of the following article: [FULL CITE], which has been published in final form at [Link to final article using the DOI]. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions. Postprint This is the peer reviewed version of the following article: [FULL CITE], which has been published in final form at [Link to final article using the DOI]. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions.-
dc.subjectcongenital scoliosis-
dc.subjectcongenital vertebral malformation (CVM)-
dc.subjecthemivertebrae-
dc.subjectTBX6-
dc.subjectTBXT-
dc.titleGenetic variants of TBX6 and TBXT identified in patients with congenital scoliosis in Southern China-
dc.typeArticle-
dc.identifier.emailCheung, JPY: cheungjp@hku.hk-
dc.identifier.emailCheung, PWH: gnuehcp6@hku.hk-
dc.identifier.emailWang, N: wangni@hku.hk-
dc.identifier.emailChoi, VNT: vntchoi@hku.hk-
dc.identifier.emailSong, YQ: songy@hku.hk-
dc.identifier.emailGao, B: gaobo@hku.hk-
dc.identifier.authorityCheung, JPY=rp01685-
dc.identifier.authoritySong, YQ=rp00488-
dc.identifier.authorityLuk, KDK=rp00333-
dc.identifier.authorityGao, B=rp02012-
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1002/jor.24805-
dc.identifier.pmid32672867-
dc.identifier.scopuseid_2-s2.0-85088390471-
dc.identifier.hkuros311508-
dc.identifier.volumeEpub 2020-07-16-
dc.identifier.isiWOS:000551546200001-
dc.publisher.placeUnited States-
dc.identifier.issnl0736-0266-

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