Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean family

Abstract Background Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder, caused by a loss‐of‐function of either TSC1 or TSC2 gene. However, in 10%–15% TSC patients there is no pathogenic variant identified in either TSC1 or TSC2 genes based on standard clinical testing. Me...
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Autor*in:	Seung Woo Ryu [verfasserIn] Ji‐Hee Yoon [verfasserIn] Dong‐wook Kim [verfasserIn] Beomman Han [verfasserIn] Heonjong Han [verfasserIn] Joohyun Han [verfasserIn] Hane Lee [verfasserIn] Go Hun Seo [verfasserIn] Beom Hee Lee [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2024

Schlagwörter:	complex inversion complex structural variant genome sequencing tuberous sclerosis complex

Übergeordnetes Werk:	In: Molecular Genetics & Genomic Medicine - Wiley, 2014, 12(2024), 3, Seite n/a-n/a
Übergeordnetes Werk:	volume:12 ; year:2024 ; number:3 ; pages:n/a-n/a

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.1002/mgg3.2330

Katalog-ID:	DOAJ100895964

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520			\|a Abstract Background Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder, caused by a loss‐of‐function of either TSC1 or TSC2 gene. However, in 10%–15% TSC patients there is no pathogenic variant identified in either TSC1 or TSC2 genes based on standard clinical testing. Methods In this study, genome sequencing was performed for families with clinical diagnosis of TSC with negative results from TSC1 and TSC2 single‐gene tests. Results Herein, we report a family presenting a classical TSC phenotype with an unusual, complex structural variant involving the TSC1 gene: an intrachromosomal inverted insertion in the long arm of chromosome 9. We speculate that the inverted 9q33.3q34.13 region was inserted into the q31.2 region with the 3′‐end of the breakpoint of the inversion being located within the TSC1 gene, resulting in premature termination of TSC1. Conclusions In this study, we demonstrate the utility of genome sequencing for the identification of complex chromosomal rearrangement. Because the breakpoints are located within the deep intronic/intergenic region, this copy‐neutral variant was missed by the TSC1 and TSC2 single‐gene tests and contributed to an unknown etiology. Together, this finding suggests that complex structural variants may be underestimated causes for the etiology of TSC.
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allfields	10.1002/mgg3.2330 doi (DE-627)DOAJ100895964 (DE-599)DOAJ33da8a59c3014aed91b50573d137a675 DE-627 ger DE-627 rakwb eng QH426-470 Seung Woo Ryu verfasserin aut Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean family 2024 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Background Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder, caused by a loss‐of‐function of either TSC1 or TSC2 gene. However, in 10%–15% TSC patients there is no pathogenic variant identified in either TSC1 or TSC2 genes based on standard clinical testing. Methods In this study, genome sequencing was performed for families with clinical diagnosis of TSC with negative results from TSC1 and TSC2 single‐gene tests. Results Herein, we report a family presenting a classical TSC phenotype with an unusual, complex structural variant involving the TSC1 gene: an intrachromosomal inverted insertion in the long arm of chromosome 9. We speculate that the inverted 9q33.3q34.13 region was inserted into the q31.2 region with the 3′‐end of the breakpoint of the inversion being located within the TSC1 gene, resulting in premature termination of TSC1. Conclusions In this study, we demonstrate the utility of genome sequencing for the identification of complex chromosomal rearrangement. Because the breakpoints are located within the deep intronic/intergenic region, this copy‐neutral variant was missed by the TSC1 and TSC2 single‐gene tests and contributed to an unknown etiology. Together, this finding suggests that complex structural variants may be underestimated causes for the etiology of TSC. complex inversion complex structural variant genome sequencing tuberous sclerosis complex Genetics Ji‐Hee Yoon verfasserin aut Dong‐wook Kim verfasserin aut Beomman Han verfasserin aut Heonjong Han verfasserin aut Joohyun Han verfasserin aut Hane Lee verfasserin aut Go Hun Seo verfasserin aut Beom Hee Lee verfasserin aut In Molecular Genetics & Genomic Medicine Wiley, 2014 12(2024), 3, Seite n/a-n/a (DE-627)769222234 (DE-600)2734884-2 23249269 nnns volume:12 year:2024 number:3 pages:n/a-n/a https://doi.org/10.1002/mgg3.2330 kostenfrei https://doaj.org/article/33da8a59c3014aed91b50573d137a675 kostenfrei https://doi.org/10.1002/mgg3.2330 kostenfrei https://doaj.org/toc/2324-9269 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 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_171 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_636 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 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_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2024 3 n/a-n/a
spelling	10.1002/mgg3.2330 doi (DE-627)DOAJ100895964 (DE-599)DOAJ33da8a59c3014aed91b50573d137a675 DE-627 ger DE-627 rakwb eng QH426-470 Seung Woo Ryu verfasserin aut Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean family 2024 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Background Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder, caused by a loss‐of‐function of either TSC1 or TSC2 gene. However, in 10%–15% TSC patients there is no pathogenic variant identified in either TSC1 or TSC2 genes based on standard clinical testing. Methods In this study, genome sequencing was performed for families with clinical diagnosis of TSC with negative results from TSC1 and TSC2 single‐gene tests. Results Herein, we report a family presenting a classical TSC phenotype with an unusual, complex structural variant involving the TSC1 gene: an intrachromosomal inverted insertion in the long arm of chromosome 9. We speculate that the inverted 9q33.3q34.13 region was inserted into the q31.2 region with the 3′‐end of the breakpoint of the inversion being located within the TSC1 gene, resulting in premature termination of TSC1. Conclusions In this study, we demonstrate the utility of genome sequencing for the identification of complex chromosomal rearrangement. Because the breakpoints are located within the deep intronic/intergenic region, this copy‐neutral variant was missed by the TSC1 and TSC2 single‐gene tests and contributed to an unknown etiology. Together, this finding suggests that complex structural variants may be underestimated causes for the etiology of TSC. complex inversion complex structural variant genome sequencing tuberous sclerosis complex Genetics Ji‐Hee Yoon verfasserin aut Dong‐wook Kim verfasserin aut Beomman Han verfasserin aut Heonjong Han verfasserin aut Joohyun Han verfasserin aut Hane Lee verfasserin aut Go Hun Seo verfasserin aut Beom Hee Lee verfasserin aut In Molecular Genetics & Genomic Medicine Wiley, 2014 12(2024), 3, Seite n/a-n/a (DE-627)769222234 (DE-600)2734884-2 23249269 nnns volume:12 year:2024 number:3 pages:n/a-n/a https://doi.org/10.1002/mgg3.2330 kostenfrei https://doaj.org/article/33da8a59c3014aed91b50573d137a675 kostenfrei https://doi.org/10.1002/mgg3.2330 kostenfrei https://doaj.org/toc/2324-9269 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 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_171 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_636 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 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_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2024 3 n/a-n/a
allfields_unstemmed	10.1002/mgg3.2330 doi (DE-627)DOAJ100895964 (DE-599)DOAJ33da8a59c3014aed91b50573d137a675 DE-627 ger DE-627 rakwb eng QH426-470 Seung Woo Ryu verfasserin aut Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean family 2024 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Background Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder, caused by a loss‐of‐function of either TSC1 or TSC2 gene. However, in 10%–15% TSC patients there is no pathogenic variant identified in either TSC1 or TSC2 genes based on standard clinical testing. Methods In this study, genome sequencing was performed for families with clinical diagnosis of TSC with negative results from TSC1 and TSC2 single‐gene tests. Results Herein, we report a family presenting a classical TSC phenotype with an unusual, complex structural variant involving the TSC1 gene: an intrachromosomal inverted insertion in the long arm of chromosome 9. We speculate that the inverted 9q33.3q34.13 region was inserted into the q31.2 region with the 3′‐end of the breakpoint of the inversion being located within the TSC1 gene, resulting in premature termination of TSC1. Conclusions In this study, we demonstrate the utility of genome sequencing for the identification of complex chromosomal rearrangement. Because the breakpoints are located within the deep intronic/intergenic region, this copy‐neutral variant was missed by the TSC1 and TSC2 single‐gene tests and contributed to an unknown etiology. Together, this finding suggests that complex structural variants may be underestimated causes for the etiology of TSC. complex inversion complex structural variant genome sequencing tuberous sclerosis complex Genetics Ji‐Hee Yoon verfasserin aut Dong‐wook Kim verfasserin aut Beomman Han verfasserin aut Heonjong Han verfasserin aut Joohyun Han verfasserin aut Hane Lee verfasserin aut Go Hun Seo verfasserin aut Beom Hee Lee verfasserin aut In Molecular Genetics & Genomic Medicine Wiley, 2014 12(2024), 3, Seite n/a-n/a (DE-627)769222234 (DE-600)2734884-2 23249269 nnns volume:12 year:2024 number:3 pages:n/a-n/a https://doi.org/10.1002/mgg3.2330 kostenfrei https://doaj.org/article/33da8a59c3014aed91b50573d137a675 kostenfrei https://doi.org/10.1002/mgg3.2330 kostenfrei https://doaj.org/toc/2324-9269 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 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_171 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_636 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 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_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2024 3 n/a-n/a
allfieldsGer	10.1002/mgg3.2330 doi (DE-627)DOAJ100895964 (DE-599)DOAJ33da8a59c3014aed91b50573d137a675 DE-627 ger DE-627 rakwb eng QH426-470 Seung Woo Ryu verfasserin aut Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean family 2024 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Background Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder, caused by a loss‐of‐function of either TSC1 or TSC2 gene. However, in 10%–15% TSC patients there is no pathogenic variant identified in either TSC1 or TSC2 genes based on standard clinical testing. Methods In this study, genome sequencing was performed for families with clinical diagnosis of TSC with negative results from TSC1 and TSC2 single‐gene tests. Results Herein, we report a family presenting a classical TSC phenotype with an unusual, complex structural variant involving the TSC1 gene: an intrachromosomal inverted insertion in the long arm of chromosome 9. We speculate that the inverted 9q33.3q34.13 region was inserted into the q31.2 region with the 3′‐end of the breakpoint of the inversion being located within the TSC1 gene, resulting in premature termination of TSC1. Conclusions In this study, we demonstrate the utility of genome sequencing for the identification of complex chromosomal rearrangement. Because the breakpoints are located within the deep intronic/intergenic region, this copy‐neutral variant was missed by the TSC1 and TSC2 single‐gene tests and contributed to an unknown etiology. Together, this finding suggests that complex structural variants may be underestimated causes for the etiology of TSC. complex inversion complex structural variant genome sequencing tuberous sclerosis complex Genetics Ji‐Hee Yoon verfasserin aut Dong‐wook Kim verfasserin aut Beomman Han verfasserin aut Heonjong Han verfasserin aut Joohyun Han verfasserin aut Hane Lee verfasserin aut Go Hun Seo verfasserin aut Beom Hee Lee verfasserin aut In Molecular Genetics & Genomic Medicine Wiley, 2014 12(2024), 3, Seite n/a-n/a (DE-627)769222234 (DE-600)2734884-2 23249269 nnns volume:12 year:2024 number:3 pages:n/a-n/a https://doi.org/10.1002/mgg3.2330 kostenfrei https://doaj.org/article/33da8a59c3014aed91b50573d137a675 kostenfrei https://doi.org/10.1002/mgg3.2330 kostenfrei https://doaj.org/toc/2324-9269 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 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_171 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_636 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 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_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2024 3 n/a-n/a
allfieldsSound	10.1002/mgg3.2330 doi (DE-627)DOAJ100895964 (DE-599)DOAJ33da8a59c3014aed91b50573d137a675 DE-627 ger DE-627 rakwb eng QH426-470 Seung Woo Ryu verfasserin aut Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean family 2024 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Background Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder, caused by a loss‐of‐function of either TSC1 or TSC2 gene. However, in 10%–15% TSC patients there is no pathogenic variant identified in either TSC1 or TSC2 genes based on standard clinical testing. Methods In this study, genome sequencing was performed for families with clinical diagnosis of TSC with negative results from TSC1 and TSC2 single‐gene tests. Results Herein, we report a family presenting a classical TSC phenotype with an unusual, complex structural variant involving the TSC1 gene: an intrachromosomal inverted insertion in the long arm of chromosome 9. We speculate that the inverted 9q33.3q34.13 region was inserted into the q31.2 region with the 3′‐end of the breakpoint of the inversion being located within the TSC1 gene, resulting in premature termination of TSC1. Conclusions In this study, we demonstrate the utility of genome sequencing for the identification of complex chromosomal rearrangement. Because the breakpoints are located within the deep intronic/intergenic region, this copy‐neutral variant was missed by the TSC1 and TSC2 single‐gene tests and contributed to an unknown etiology. Together, this finding suggests that complex structural variants may be underestimated causes for the etiology of TSC. complex inversion complex structural variant genome sequencing tuberous sclerosis complex Genetics Ji‐Hee Yoon verfasserin aut Dong‐wook Kim verfasserin aut Beomman Han verfasserin aut Heonjong Han verfasserin aut Joohyun Han verfasserin aut Hane Lee verfasserin aut Go Hun Seo verfasserin aut Beom Hee Lee verfasserin aut In Molecular Genetics & Genomic Medicine Wiley, 2014 12(2024), 3, Seite n/a-n/a (DE-627)769222234 (DE-600)2734884-2 23249269 nnns volume:12 year:2024 number:3 pages:n/a-n/a https://doi.org/10.1002/mgg3.2330 kostenfrei https://doaj.org/article/33da8a59c3014aed91b50573d137a675 kostenfrei https://doi.org/10.1002/mgg3.2330 kostenfrei https://doaj.org/toc/2324-9269 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 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_171 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_636 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 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_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2024 3 n/a-n/a
language	English
source	In Molecular Genetics & Genomic Medicine 12(2024), 3, Seite n/a-n/a volume:12 year:2024 number:3 pages:n/a-n/a
sourceStr	In Molecular Genetics & Genomic Medicine 12(2024), 3, Seite n/a-n/a volume:12 year:2024 number:3 pages:n/a-n/a
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	complex inversion complex structural variant genome sequencing tuberous sclerosis complex Genetics
isfreeaccess_bool	true
container_title	Molecular Genetics & Genomic Medicine
authorswithroles_txt_mv	Seung Woo Ryu @@aut@@ Ji‐Hee Yoon @@aut@@ Dong‐wook Kim @@aut@@ Beomman Han @@aut@@ Heonjong Han @@aut@@ Joohyun Han @@aut@@ Hane Lee @@aut@@ Go Hun Seo @@aut@@ Beom Hee Lee @@aut@@
publishDateDaySort_date	2024-01-01T00:00:00Z
hierarchy_top_id	769222234
id	DOAJ100895964
language_de	englisch
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However, in 10%–15% TSC patients there is no pathogenic variant identified in either TSC1 or TSC2 genes based on standard clinical testing. Methods In this study, genome sequencing was performed for families with clinical diagnosis of TSC with negative results from TSC1 and TSC2 single‐gene tests. Results Herein, we report a family presenting a classical TSC phenotype with an unusual, complex structural variant involving the TSC1 gene: an intrachromosomal inverted insertion in the long arm of chromosome 9. We speculate that the inverted 9q33.3q34.13 region was inserted into the q31.2 region with the 3′‐end of the breakpoint of the inversion being located within the TSC1 gene, resulting in premature termination of TSC1. Conclusions In this study, we demonstrate the utility of genome sequencing for the identification of complex chromosomal rearrangement. Because the breakpoints are located within the deep intronic/intergenic region, this copy‐neutral variant was missed by the TSC1 and TSC2 single‐gene tests and contributed to an unknown etiology. 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callnumber-first	Q - Science
author	Seung Woo Ryu
spellingShingle	Seung Woo Ryu misc QH426-470 misc complex inversion misc complex structural variant misc genome sequencing misc tuberous sclerosis complex misc Genetics Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean family
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topic_title	QH426-470 Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean family complex inversion complex structural variant genome sequencing tuberous sclerosis complex
topic	misc QH426-470 misc complex inversion misc complex structural variant misc genome sequencing misc tuberous sclerosis complex misc Genetics
topic_unstemmed	misc QH426-470 misc complex inversion misc complex structural variant misc genome sequencing misc tuberous sclerosis complex misc Genetics
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title	Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean family
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title_full	Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean family
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author_browse	Seung Woo Ryu Ji‐Hee Yoon Dong‐wook Kim Beomman Han Heonjong Han Joohyun Han Hane Lee Go Hun Seo Beom Hee Lee
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title_sort	identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a korean family
callnumber	QH426-470
title_auth	Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean family
abstract	Abstract Background Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder, caused by a loss‐of‐function of either TSC1 or TSC2 gene. However, in 10%–15% TSC patients there is no pathogenic variant identified in either TSC1 or TSC2 genes based on standard clinical testing. Methods In this study, genome sequencing was performed for families with clinical diagnosis of TSC with negative results from TSC1 and TSC2 single‐gene tests. Results Herein, we report a family presenting a classical TSC phenotype with an unusual, complex structural variant involving the TSC1 gene: an intrachromosomal inverted insertion in the long arm of chromosome 9. We speculate that the inverted 9q33.3q34.13 region was inserted into the q31.2 region with the 3′‐end of the breakpoint of the inversion being located within the TSC1 gene, resulting in premature termination of TSC1. Conclusions In this study, we demonstrate the utility of genome sequencing for the identification of complex chromosomal rearrangement. Because the breakpoints are located within the deep intronic/intergenic region, this copy‐neutral variant was missed by the TSC1 and TSC2 single‐gene tests and contributed to an unknown etiology. Together, this finding suggests that complex structural variants may be underestimated causes for the etiology of TSC.
abstractGer	Abstract Background Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder, caused by a loss‐of‐function of either TSC1 or TSC2 gene. However, in 10%–15% TSC patients there is no pathogenic variant identified in either TSC1 or TSC2 genes based on standard clinical testing. Methods In this study, genome sequencing was performed for families with clinical diagnosis of TSC with negative results from TSC1 and TSC2 single‐gene tests. Results Herein, we report a family presenting a classical TSC phenotype with an unusual, complex structural variant involving the TSC1 gene: an intrachromosomal inverted insertion in the long arm of chromosome 9. We speculate that the inverted 9q33.3q34.13 region was inserted into the q31.2 region with the 3′‐end of the breakpoint of the inversion being located within the TSC1 gene, resulting in premature termination of TSC1. Conclusions In this study, we demonstrate the utility of genome sequencing for the identification of complex chromosomal rearrangement. Because the breakpoints are located within the deep intronic/intergenic region, this copy‐neutral variant was missed by the TSC1 and TSC2 single‐gene tests and contributed to an unknown etiology. Together, this finding suggests that complex structural variants may be underestimated causes for the etiology of TSC.
abstract_unstemmed	Abstract Background Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder, caused by a loss‐of‐function of either TSC1 or TSC2 gene. However, in 10%–15% TSC patients there is no pathogenic variant identified in either TSC1 or TSC2 genes based on standard clinical testing. Methods In this study, genome sequencing was performed for families with clinical diagnosis of TSC with negative results from TSC1 and TSC2 single‐gene tests. Results Herein, we report a family presenting a classical TSC phenotype with an unusual, complex structural variant involving the TSC1 gene: an intrachromosomal inverted insertion in the long arm of chromosome 9. We speculate that the inverted 9q33.3q34.13 region was inserted into the q31.2 region with the 3′‐end of the breakpoint of the inversion being located within the TSC1 gene, resulting in premature termination of TSC1. Conclusions In this study, we demonstrate the utility of genome sequencing for the identification of complex chromosomal rearrangement. Because the breakpoints are located within the deep intronic/intergenic region, this copy‐neutral variant was missed by the TSC1 and TSC2 single‐gene tests and contributed to an unknown etiology. Together, this finding suggests that complex structural variants may be underestimated causes for the etiology of TSC.
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container_issue	3
title_short	Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean family
url	https://doi.org/10.1002/mgg3.2330 https://doaj.org/article/33da8a59c3014aed91b50573d137a675 https://doaj.org/toc/2324-9269
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up_date	2024-07-03T17:19:06.819Z
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However, in 10%–15% TSC patients there is no pathogenic variant identified in either TSC1 or TSC2 genes based on standard clinical testing. Methods In this study, genome sequencing was performed for families with clinical diagnosis of TSC with negative results from TSC1 and TSC2 single‐gene tests. Results Herein, we report a family presenting a classical TSC phenotype with an unusual, complex structural variant involving the TSC1 gene: an intrachromosomal inverted insertion in the long arm of chromosome 9. We speculate that the inverted 9q33.3q34.13 region was inserted into the q31.2 region with the 3′‐end of the breakpoint of the inversion being located within the TSC1 gene, resulting in premature termination of TSC1. Conclusions In this study, we demonstrate the utility of genome sequencing for the identification of complex chromosomal rearrangement. Because the breakpoints are located within the deep intronic/intergenic region, this copy‐neutral variant was missed by the TSC1 and TSC2 single‐gene tests and contributed to an unknown etiology. 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Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean family

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