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Article: Identification of Copy Number Variants in a Southern Chinese Cohort of Patients with Congenital Scoliosis

TitleIdentification of Copy Number Variants in a Southern Chinese Cohort of Patients with Congenital Scoliosis
Authors
Keywordscongenital scoliosis
congenital vertebral malformation
copy number variant
CNV
Issue Date2021
PublisherMDPI AG. The Journal's web site is located at http://www.mdpi.com/journal/genes
Citation
Genes, 2021, v. 12 n. 8, p. article no. 1213 How to Cite?
AbstractCongenital scoliosis (CS) is a lateral curvature of the spine resulting from congenital vertebral malformations (CVMs) and affects 0.5–1/1000 live births. The copy number variant (CNV) at chromosome 16p11.2 has been implicated in CVMs and recent studies identified a compound heterozygosity of 16p11.2 microdeletion and TBX6 variant/haplotype causing CS in multiple cohorts, which explains about 5–10% of the affected cases. Here, we studied the genetic etiology of CS by analyzing CNVs in a cohort of 67 patients with congenital hemivertebrae and 125 family controls. We employed both candidate gene and family-based approaches to filter CNVs called from whole exome sequencing data. This identified 12 CNVs in four scoliosis-associated genes (TBX6, NOTCH2, DSCAM, and SNTG1) as well as eight recessive and 64 novel rare CNVs in 15 additional genes. Some candidates, such as DHX40, NBPF20, RASA2, and MYSM1, have been found to be associated with syndromes with scoliosis or implicated in bone/spine development. In particular, the MYSM1 mutant mouse showed spinal deformities. Our findings suggest that, in addition to the 16p11.2 microdeletion, other CNVs are potentially important in predisposing to CS.
Persistent Identifierhttp://hdl.handle.net/10722/302021
ISSN
2023 Impact Factor: 2.8
2023 SCImago Journal Rankings: 0.817
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorLai, W-
dc.contributor.authorFENG, X-
dc.contributor.authorYUE, M-
dc.contributor.authorCheung, PWH-
dc.contributor.authorChoi, VNT-
dc.contributor.authorSong, YQ-
dc.contributor.authorLuk, KDK-
dc.contributor.authorCheung, JPY-
dc.contributor.authorGao, B-
dc.date.accessioned2021-08-21T03:30:25Z-
dc.date.available2021-08-21T03:30:25Z-
dc.date.issued2021-
dc.identifier.citationGenes, 2021, v. 12 n. 8, p. article no. 1213-
dc.identifier.issn2073-4425-
dc.identifier.urihttp://hdl.handle.net/10722/302021-
dc.description.abstractCongenital scoliosis (CS) is a lateral curvature of the spine resulting from congenital vertebral malformations (CVMs) and affects 0.5–1/1000 live births. The copy number variant (CNV) at chromosome 16p11.2 has been implicated in CVMs and recent studies identified a compound heterozygosity of 16p11.2 microdeletion and TBX6 variant/haplotype causing CS in multiple cohorts, which explains about 5–10% of the affected cases. Here, we studied the genetic etiology of CS by analyzing CNVs in a cohort of 67 patients with congenital hemivertebrae and 125 family controls. We employed both candidate gene and family-based approaches to filter CNVs called from whole exome sequencing data. This identified 12 CNVs in four scoliosis-associated genes (TBX6, NOTCH2, DSCAM, and SNTG1) as well as eight recessive and 64 novel rare CNVs in 15 additional genes. Some candidates, such as DHX40, NBPF20, RASA2, and MYSM1, have been found to be associated with syndromes with scoliosis or implicated in bone/spine development. In particular, the MYSM1 mutant mouse showed spinal deformities. Our findings suggest that, in addition to the 16p11.2 microdeletion, other CNVs are potentially important in predisposing to CS.-
dc.languageeng-
dc.publisherMDPI AG. The Journal's web site is located at http://www.mdpi.com/journal/genes-
dc.relation.ispartofGenes-
dc.rightsThis work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.-
dc.subjectcongenital scoliosis-
dc.subjectcongenital vertebral malformation-
dc.subjectcopy number variant-
dc.subjectCNV-
dc.titleIdentification of Copy Number Variants in a Southern Chinese Cohort of Patients with Congenital Scoliosis-
dc.typeArticle-
dc.identifier.emailCheung, PWH: gnuehcp6@hku.hk-
dc.identifier.emailChoi, VNT: vntchoi@hku.hk-
dc.identifier.emailSong, YQ: songy@hku.hk-
dc.identifier.emailCheung, JPY: cheungjp@hku.hk-
dc.identifier.emailGao, B: gaobo@hku.hk-
dc.identifier.authoritySong, YQ=rp00488-
dc.identifier.authorityLuk, KDK=rp00333-
dc.identifier.authorityCheung, JPY=rp01685-
dc.identifier.authorityGao, B=rp02012-
dc.description.naturepublished_or_final_version-
dc.identifier.doi10.3390/genes12081213-
dc.identifier.scopuseid_2-s2.0-85112473542-
dc.identifier.hkuros324364-
dc.identifier.volume12-
dc.identifier.issue8-
dc.identifier.spagearticle no. 1213-
dc.identifier.epagearticle no. 1213-
dc.identifier.isiWOS:000689170000001-
dc.publisher.placeSwitzerland-

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