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

Congenital 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....
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Autor*in:	Wenjing Lai [verfasserIn] Xin Feng [verfasserIn] Ming Yue [verfasserIn] Prudence W. H. Cheung [verfasserIn] Vanessa N. T. Choi [verfasserIn] You-Qiang Song [verfasserIn] Keith D. K. Luk [verfasserIn] Jason Pui Yin Cheung [verfasserIn] Bo Gao [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2021

Schlagwörter:	congenital scoliosis congenital vertebral malformation copy number variant CNV

Übergeordnetes Werk:	In: Genes - MDPI AG, 2010, 12(2021), 8, p 1213
Übergeordnetes Werk:	volume:12 ; year:2021 ; number:8, p 1213

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.3390/genes12081213

Katalog-ID:	DOAJ001413953

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520			\|a Congenital 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 <i<TBX6</i< 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 (<i<TBX6</i<, <i<NOTCH2</i<, <i<DSCAM</i<, and <i<SNTG1</i<) as well as eight recessive and 64 novel rare CNVs in 15 additional genes. Some candidates, such as <i<DHX40</i<, <i<NBPF20</i<, <i<RASA2</i<, and <i<MYSM1</i<, have been found to be associated with syndromes with scoliosis or implicated in bone/spine development. In particular, the <i<MYSM1</i< 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.
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allfields	10.3390/genes12081213 doi (DE-627)DOAJ001413953 (DE-599)DOAJc1e9ec6497334c298b40341c2eefbafa DE-627 ger DE-627 rakwb eng QH426-470 Wenjing Lai verfasserin aut Identification of Copy Number Variants in a Southern Chinese Cohort of Patients with Congenital Scoliosis 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Congenital 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 <i<TBX6</i< 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 (<i<TBX6</i<, <i<NOTCH2</i<, <i<DSCAM</i<, and <i<SNTG1</i<) as well as eight recessive and 64 novel rare CNVs in 15 additional genes. Some candidates, such as <i<DHX40</i<, <i<NBPF20</i<, <i<RASA2</i<, and <i<MYSM1</i<, have been found to be associated with syndromes with scoliosis or implicated in bone/spine development. In particular, the <i<MYSM1</i< 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. congenital scoliosis congenital vertebral malformation copy number variant CNV Genetics Xin Feng verfasserin aut Ming Yue verfasserin aut Prudence W. H. Cheung verfasserin aut Vanessa N. T. Choi verfasserin aut You-Qiang Song verfasserin aut Keith D. K. Luk verfasserin aut Jason Pui Yin Cheung verfasserin aut Bo Gao verfasserin aut In Genes MDPI AG, 2010 12(2021), 8, p 1213 (DE-627)614096537 (DE-600)2527218-4 20734425 nnns volume:12 year:2021 number:8, p 1213 https://doi.org/10.3390/genes12081213 kostenfrei https://doaj.org/article/c1e9ec6497334c298b40341c2eefbafa kostenfrei https://www.mdpi.com/2073-4425/12/8/1213 kostenfrei https://doaj.org/toc/2073-4425 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2021 8, p 1213
spelling	10.3390/genes12081213 doi (DE-627)DOAJ001413953 (DE-599)DOAJc1e9ec6497334c298b40341c2eefbafa DE-627 ger DE-627 rakwb eng QH426-470 Wenjing Lai verfasserin aut Identification of Copy Number Variants in a Southern Chinese Cohort of Patients with Congenital Scoliosis 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Congenital 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 <i<TBX6</i< 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 (<i<TBX6</i<, <i<NOTCH2</i<, <i<DSCAM</i<, and <i<SNTG1</i<) as well as eight recessive and 64 novel rare CNVs in 15 additional genes. Some candidates, such as <i<DHX40</i<, <i<NBPF20</i<, <i<RASA2</i<, and <i<MYSM1</i<, have been found to be associated with syndromes with scoliosis or implicated in bone/spine development. In particular, the <i<MYSM1</i< 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. congenital scoliosis congenital vertebral malformation copy number variant CNV Genetics Xin Feng verfasserin aut Ming Yue verfasserin aut Prudence W. H. Cheung verfasserin aut Vanessa N. T. Choi verfasserin aut You-Qiang Song verfasserin aut Keith D. K. Luk verfasserin aut Jason Pui Yin Cheung verfasserin aut Bo Gao verfasserin aut In Genes MDPI AG, 2010 12(2021), 8, p 1213 (DE-627)614096537 (DE-600)2527218-4 20734425 nnns volume:12 year:2021 number:8, p 1213 https://doi.org/10.3390/genes12081213 kostenfrei https://doaj.org/article/c1e9ec6497334c298b40341c2eefbafa kostenfrei https://www.mdpi.com/2073-4425/12/8/1213 kostenfrei https://doaj.org/toc/2073-4425 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2021 8, p 1213
allfields_unstemmed	10.3390/genes12081213 doi (DE-627)DOAJ001413953 (DE-599)DOAJc1e9ec6497334c298b40341c2eefbafa DE-627 ger DE-627 rakwb eng QH426-470 Wenjing Lai verfasserin aut Identification of Copy Number Variants in a Southern Chinese Cohort of Patients with Congenital Scoliosis 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Congenital 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 <i<TBX6</i< 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 (<i<TBX6</i<, <i<NOTCH2</i<, <i<DSCAM</i<, and <i<SNTG1</i<) as well as eight recessive and 64 novel rare CNVs in 15 additional genes. Some candidates, such as <i<DHX40</i<, <i<NBPF20</i<, <i<RASA2</i<, and <i<MYSM1</i<, have been found to be associated with syndromes with scoliosis or implicated in bone/spine development. In particular, the <i<MYSM1</i< 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. congenital scoliosis congenital vertebral malformation copy number variant CNV Genetics Xin Feng verfasserin aut Ming Yue verfasserin aut Prudence W. H. Cheung verfasserin aut Vanessa N. T. Choi verfasserin aut You-Qiang Song verfasserin aut Keith D. K. Luk verfasserin aut Jason Pui Yin Cheung verfasserin aut Bo Gao verfasserin aut In Genes MDPI AG, 2010 12(2021), 8, p 1213 (DE-627)614096537 (DE-600)2527218-4 20734425 nnns volume:12 year:2021 number:8, p 1213 https://doi.org/10.3390/genes12081213 kostenfrei https://doaj.org/article/c1e9ec6497334c298b40341c2eefbafa kostenfrei https://www.mdpi.com/2073-4425/12/8/1213 kostenfrei https://doaj.org/toc/2073-4425 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2021 8, p 1213
allfieldsGer	10.3390/genes12081213 doi (DE-627)DOAJ001413953 (DE-599)DOAJc1e9ec6497334c298b40341c2eefbafa DE-627 ger DE-627 rakwb eng QH426-470 Wenjing Lai verfasserin aut Identification of Copy Number Variants in a Southern Chinese Cohort of Patients with Congenital Scoliosis 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Congenital 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 <i<TBX6</i< 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 (<i<TBX6</i<, <i<NOTCH2</i<, <i<DSCAM</i<, and <i<SNTG1</i<) as well as eight recessive and 64 novel rare CNVs in 15 additional genes. Some candidates, such as <i<DHX40</i<, <i<NBPF20</i<, <i<RASA2</i<, and <i<MYSM1</i<, have been found to be associated with syndromes with scoliosis or implicated in bone/spine development. In particular, the <i<MYSM1</i< 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. congenital scoliosis congenital vertebral malformation copy number variant CNV Genetics Xin Feng verfasserin aut Ming Yue verfasserin aut Prudence W. H. Cheung verfasserin aut Vanessa N. T. Choi verfasserin aut You-Qiang Song verfasserin aut Keith D. K. Luk verfasserin aut Jason Pui Yin Cheung verfasserin aut Bo Gao verfasserin aut In Genes MDPI AG, 2010 12(2021), 8, p 1213 (DE-627)614096537 (DE-600)2527218-4 20734425 nnns volume:12 year:2021 number:8, p 1213 https://doi.org/10.3390/genes12081213 kostenfrei https://doaj.org/article/c1e9ec6497334c298b40341c2eefbafa kostenfrei https://www.mdpi.com/2073-4425/12/8/1213 kostenfrei https://doaj.org/toc/2073-4425 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2021 8, p 1213
allfieldsSound	10.3390/genes12081213 doi (DE-627)DOAJ001413953 (DE-599)DOAJc1e9ec6497334c298b40341c2eefbafa DE-627 ger DE-627 rakwb eng QH426-470 Wenjing Lai verfasserin aut Identification of Copy Number Variants in a Southern Chinese Cohort of Patients with Congenital Scoliosis 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Congenital 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 <i<TBX6</i< 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 (<i<TBX6</i<, <i<NOTCH2</i<, <i<DSCAM</i<, and <i<SNTG1</i<) as well as eight recessive and 64 novel rare CNVs in 15 additional genes. Some candidates, such as <i<DHX40</i<, <i<NBPF20</i<, <i<RASA2</i<, and <i<MYSM1</i<, have been found to be associated with syndromes with scoliosis or implicated in bone/spine development. In particular, the <i<MYSM1</i< 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. congenital scoliosis congenital vertebral malformation copy number variant CNV Genetics Xin Feng verfasserin aut Ming Yue verfasserin aut Prudence W. H. Cheung verfasserin aut Vanessa N. T. Choi verfasserin aut You-Qiang Song verfasserin aut Keith D. K. Luk verfasserin aut Jason Pui Yin Cheung verfasserin aut Bo Gao verfasserin aut In Genes MDPI AG, 2010 12(2021), 8, p 1213 (DE-627)614096537 (DE-600)2527218-4 20734425 nnns volume:12 year:2021 number:8, p 1213 https://doi.org/10.3390/genes12081213 kostenfrei https://doaj.org/article/c1e9ec6497334c298b40341c2eefbafa kostenfrei https://www.mdpi.com/2073-4425/12/8/1213 kostenfrei https://doaj.org/toc/2073-4425 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2021 8, p 1213
language	English
source	In Genes 12(2021), 8, p 1213 volume:12 year:2021 number:8, p 1213
sourceStr	In Genes 12(2021), 8, p 1213 volume:12 year:2021 number:8, p 1213
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authorswithroles_txt_mv	Wenjing Lai @@aut@@ Xin Feng @@aut@@ Ming Yue @@aut@@ Prudence W. H. Cheung @@aut@@ Vanessa N. T. Choi @@aut@@ You-Qiang Song @@aut@@ Keith D. K. Luk @@aut@@ Jason Pui Yin Cheung @@aut@@ Bo Gao @@aut@@
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callnumber-first	Q - Science
author	Wenjing Lai
spellingShingle	Wenjing Lai misc QH426-470 misc congenital scoliosis misc congenital vertebral malformation misc copy number variant misc CNV misc Genetics Identification of Copy Number Variants in a Southern Chinese Cohort of Patients with Congenital Scoliosis
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topic_title	QH426-470 Identification of Copy Number Variants in a Southern Chinese Cohort of Patients with Congenital Scoliosis congenital scoliosis congenital vertebral malformation copy number variant CNV
topic	misc QH426-470 misc congenital scoliosis misc congenital vertebral malformation misc copy number variant misc CNV misc Genetics
topic_unstemmed	misc QH426-470 misc congenital scoliosis misc congenital vertebral malformation misc copy number variant misc CNV misc Genetics
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title	Identification of Copy Number Variants in a Southern Chinese Cohort of Patients with Congenital Scoliosis
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title_full	Identification of Copy Number Variants in a Southern Chinese Cohort of Patients with Congenital Scoliosis
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author_browse	Wenjing Lai Xin Feng Ming Yue Prudence W. H. Cheung Vanessa N. T. Choi You-Qiang Song Keith D. K. Luk Jason Pui Yin Cheung Bo Gao
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title_sort	identification of copy number variants in a southern chinese cohort of patients with congenital scoliosis
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title_auth	Identification of Copy Number Variants in a Southern Chinese Cohort of Patients with Congenital Scoliosis
abstract	Congenital 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 <i<TBX6</i< 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 (<i<TBX6</i<, <i<NOTCH2</i<, <i<DSCAM</i<, and <i<SNTG1</i<) as well as eight recessive and 64 novel rare CNVs in 15 additional genes. Some candidates, such as <i<DHX40</i<, <i<NBPF20</i<, <i<RASA2</i<, and <i<MYSM1</i<, have been found to be associated with syndromes with scoliosis or implicated in bone/spine development. In particular, the <i<MYSM1</i< 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.
abstractGer	Congenital 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 <i<TBX6</i< 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 (<i<TBX6</i<, <i<NOTCH2</i<, <i<DSCAM</i<, and <i<SNTG1</i<) as well as eight recessive and 64 novel rare CNVs in 15 additional genes. Some candidates, such as <i<DHX40</i<, <i<NBPF20</i<, <i<RASA2</i<, and <i<MYSM1</i<, have been found to be associated with syndromes with scoliosis or implicated in bone/spine development. In particular, the <i<MYSM1</i< 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.
abstract_unstemmed	Congenital 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 <i<TBX6</i< 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 (<i<TBX6</i<, <i<NOTCH2</i<, <i<DSCAM</i<, and <i<SNTG1</i<) as well as eight recessive and 64 novel rare CNVs in 15 additional genes. Some candidates, such as <i<DHX40</i<, <i<NBPF20</i<, <i<RASA2</i<, and <i<MYSM1</i<, have been found to be associated with syndromes with scoliosis or implicated in bone/spine development. In particular, the <i<MYSM1</i< 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.
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title_short	Identification of Copy Number Variants in a Southern Chinese Cohort of Patients with Congenital Scoliosis
url	https://doi.org/10.3390/genes12081213 https://doaj.org/article/c1e9ec6497334c298b40341c2eefbafa https://www.mdpi.com/2073-4425/12/8/1213 https://doaj.org/toc/2073-4425
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author2Str	Xin Feng Ming Yue Prudence W. H. Cheung Vanessa N. T. Choi You-Qiang Song Keith D. K. Luk Jason Pui Yin Cheung Bo Gao
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up_date	2024-07-03T20:17:10.322Z
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Identification of Copy Number Variants in a Southern Chinese Cohort of Patients with Congenital Scoliosis

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