Novel frameshift mutation in PURA gene causes severe encephalopathy of unclear cause

Abstract Background The etiology of many genetic diseases is challenging. This is especially true for developmental disorders of the central nervous system, since several genes can be involved. Many of such pathologies are considered rare diseases, since they affect less than 1 in 2000 people. Due t...
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Autor*in:	Lucía Spangenberg [verfasserIn] Rosario Guecaimburú [verfasserIn] Alejandra Tapié [verfasserIn] Susana Vivas [verfasserIn] Soledad Rodríguez [verfasserIn] Martín Graña [verfasserIn] Hugo Naya [verfasserIn] Víctor Raggio [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2021

Übergeordnetes Werk:	In: Molecular Genetics & Genomic Medicine - Wiley, 2014, 9(2021), 5, Seite n/a-n/a
Übergeordnetes Werk:	volume:9 ; year:2021 ; number:5 ; pages:n/a-n/a

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.1002/mgg3.1622

Katalog-ID:	DOAJ057007322

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520			\|a Abstract Background The etiology of many genetic diseases is challenging. This is especially true for developmental disorders of the central nervous system, since several genes can be involved. Many of such pathologies are considered rare diseases, since they affect less than 1 in 2000 people. Due to their low frequency, they present several difficulties for patients, from the delay in the diagnosis to the lack of treatments. Next‐generation sequencing techniques have improved the search for diagnosis in several pathologies. Many studies have shown that the use of whole‐exome/genome sequencing in rare Mendelian diseases has a diagnostic yield between 30% and 50% depending on the disease. Methods Here, we present the case of an undiagnosed 6‐year‐old boy with severe encephalopathy of unclear cause, whose etiological diagnosis was achieved by whole‐genome sequencing. Results We found a novel variant that has not been previously reported in patients nor it has been described in GnomAD. Segregation analysis supports a de novo mutation, since it is not present in healthy parents. The change is predicted to be harmful to protein function, since it falls in the first quarter of the protein producing an altered reading frame and generating a premature stop codon. Additionally, the variant is classified as pathogenic according to ACMG criteria (PVS1, PM2, and PP3). Furthermore, there are several reported frameshift mutations in nearby codons as well as nonsense mutations that are predicted as pathogenic in other studies. Conclusion We found a novel de novo frameshift mutation in the PURA gene (MIM number 600473), c.151_161del, with sufficient evidence of its pathogenicity.
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allfields	10.1002/mgg3.1622 doi (DE-627)DOAJ057007322 (DE-599)DOAJb48c21544e2d4df2996f1aeabfa70ca4 DE-627 ger DE-627 rakwb eng QH426-470 Lucía Spangenberg verfasserin aut Novel frameshift mutation in PURA gene causes severe encephalopathy of unclear cause 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Background The etiology of many genetic diseases is challenging. This is especially true for developmental disorders of the central nervous system, since several genes can be involved. Many of such pathologies are considered rare diseases, since they affect less than 1 in 2000 people. Due to their low frequency, they present several difficulties for patients, from the delay in the diagnosis to the lack of treatments. Next‐generation sequencing techniques have improved the search for diagnosis in several pathologies. Many studies have shown that the use of whole‐exome/genome sequencing in rare Mendelian diseases has a diagnostic yield between 30% and 50% depending on the disease. Methods Here, we present the case of an undiagnosed 6‐year‐old boy with severe encephalopathy of unclear cause, whose etiological diagnosis was achieved by whole‐genome sequencing. Results We found a novel variant that has not been previously reported in patients nor it has been described in GnomAD. Segregation analysis supports a de novo mutation, since it is not present in healthy parents. The change is predicted to be harmful to protein function, since it falls in the first quarter of the protein producing an altered reading frame and generating a premature stop codon. Additionally, the variant is classified as pathogenic according to ACMG criteria (PVS1, PM2, and PP3). Furthermore, there are several reported frameshift mutations in nearby codons as well as nonsense mutations that are predicted as pathogenic in other studies. Conclusion We found a novel de novo frameshift mutation in the PURA gene (MIM number 600473), c.151_161del, with sufficient evidence of its pathogenicity. Genetics Rosario Guecaimburú verfasserin aut Alejandra Tapié verfasserin aut Susana Vivas verfasserin aut Soledad Rodríguez verfasserin aut Martín Graña verfasserin aut Hugo Naya verfasserin aut Víctor Raggio verfasserin aut In Molecular Genetics & Genomic Medicine Wiley, 2014 9(2021), 5, Seite n/a-n/a (DE-627)769222234 (DE-600)2734884-2 23249269 nnns volume:9 year:2021 number:5 pages:n/a-n/a https://doi.org/10.1002/mgg3.1622 kostenfrei https://doaj.org/article/b48c21544e2d4df2996f1aeabfa70ca4 kostenfrei https://doi.org/10.1002/mgg3.1622 kostenfrei https://doaj.org/toc/2324-9269 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA 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 9 2021 5 n/a-n/a
spelling	10.1002/mgg3.1622 doi (DE-627)DOAJ057007322 (DE-599)DOAJb48c21544e2d4df2996f1aeabfa70ca4 DE-627 ger DE-627 rakwb eng QH426-470 Lucía Spangenberg verfasserin aut Novel frameshift mutation in PURA gene causes severe encephalopathy of unclear cause 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Background The etiology of many genetic diseases is challenging. This is especially true for developmental disorders of the central nervous system, since several genes can be involved. Many of such pathologies are considered rare diseases, since they affect less than 1 in 2000 people. Due to their low frequency, they present several difficulties for patients, from the delay in the diagnosis to the lack of treatments. Next‐generation sequencing techniques have improved the search for diagnosis in several pathologies. Many studies have shown that the use of whole‐exome/genome sequencing in rare Mendelian diseases has a diagnostic yield between 30% and 50% depending on the disease. Methods Here, we present the case of an undiagnosed 6‐year‐old boy with severe encephalopathy of unclear cause, whose etiological diagnosis was achieved by whole‐genome sequencing. Results We found a novel variant that has not been previously reported in patients nor it has been described in GnomAD. Segregation analysis supports a de novo mutation, since it is not present in healthy parents. The change is predicted to be harmful to protein function, since it falls in the first quarter of the protein producing an altered reading frame and generating a premature stop codon. Additionally, the variant is classified as pathogenic according to ACMG criteria (PVS1, PM2, and PP3). Furthermore, there are several reported frameshift mutations in nearby codons as well as nonsense mutations that are predicted as pathogenic in other studies. Conclusion We found a novel de novo frameshift mutation in the PURA gene (MIM number 600473), c.151_161del, with sufficient evidence of its pathogenicity. Genetics Rosario Guecaimburú verfasserin aut Alejandra Tapié verfasserin aut Susana Vivas verfasserin aut Soledad Rodríguez verfasserin aut Martín Graña verfasserin aut Hugo Naya verfasserin aut Víctor Raggio verfasserin aut In Molecular Genetics & Genomic Medicine Wiley, 2014 9(2021), 5, Seite n/a-n/a (DE-627)769222234 (DE-600)2734884-2 23249269 nnns volume:9 year:2021 number:5 pages:n/a-n/a https://doi.org/10.1002/mgg3.1622 kostenfrei https://doaj.org/article/b48c21544e2d4df2996f1aeabfa70ca4 kostenfrei https://doi.org/10.1002/mgg3.1622 kostenfrei https://doaj.org/toc/2324-9269 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA 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 9 2021 5 n/a-n/a
allfields_unstemmed	10.1002/mgg3.1622 doi (DE-627)DOAJ057007322 (DE-599)DOAJb48c21544e2d4df2996f1aeabfa70ca4 DE-627 ger DE-627 rakwb eng QH426-470 Lucía Spangenberg verfasserin aut Novel frameshift mutation in PURA gene causes severe encephalopathy of unclear cause 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Background The etiology of many genetic diseases is challenging. This is especially true for developmental disorders of the central nervous system, since several genes can be involved. Many of such pathologies are considered rare diseases, since they affect less than 1 in 2000 people. Due to their low frequency, they present several difficulties for patients, from the delay in the diagnosis to the lack of treatments. Next‐generation sequencing techniques have improved the search for diagnosis in several pathologies. Many studies have shown that the use of whole‐exome/genome sequencing in rare Mendelian diseases has a diagnostic yield between 30% and 50% depending on the disease. Methods Here, we present the case of an undiagnosed 6‐year‐old boy with severe encephalopathy of unclear cause, whose etiological diagnosis was achieved by whole‐genome sequencing. Results We found a novel variant that has not been previously reported in patients nor it has been described in GnomAD. Segregation analysis supports a de novo mutation, since it is not present in healthy parents. The change is predicted to be harmful to protein function, since it falls in the first quarter of the protein producing an altered reading frame and generating a premature stop codon. Additionally, the variant is classified as pathogenic according to ACMG criteria (PVS1, PM2, and PP3). Furthermore, there are several reported frameshift mutations in nearby codons as well as nonsense mutations that are predicted as pathogenic in other studies. Conclusion We found a novel de novo frameshift mutation in the PURA gene (MIM number 600473), c.151_161del, with sufficient evidence of its pathogenicity. Genetics Rosario Guecaimburú verfasserin aut Alejandra Tapié verfasserin aut Susana Vivas verfasserin aut Soledad Rodríguez verfasserin aut Martín Graña verfasserin aut Hugo Naya verfasserin aut Víctor Raggio verfasserin aut In Molecular Genetics & Genomic Medicine Wiley, 2014 9(2021), 5, Seite n/a-n/a (DE-627)769222234 (DE-600)2734884-2 23249269 nnns volume:9 year:2021 number:5 pages:n/a-n/a https://doi.org/10.1002/mgg3.1622 kostenfrei https://doaj.org/article/b48c21544e2d4df2996f1aeabfa70ca4 kostenfrei https://doi.org/10.1002/mgg3.1622 kostenfrei https://doaj.org/toc/2324-9269 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA 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 9 2021 5 n/a-n/a
allfieldsGer	10.1002/mgg3.1622 doi (DE-627)DOAJ057007322 (DE-599)DOAJb48c21544e2d4df2996f1aeabfa70ca4 DE-627 ger DE-627 rakwb eng QH426-470 Lucía Spangenberg verfasserin aut Novel frameshift mutation in PURA gene causes severe encephalopathy of unclear cause 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Background The etiology of many genetic diseases is challenging. This is especially true for developmental disorders of the central nervous system, since several genes can be involved. Many of such pathologies are considered rare diseases, since they affect less than 1 in 2000 people. Due to their low frequency, they present several difficulties for patients, from the delay in the diagnosis to the lack of treatments. Next‐generation sequencing techniques have improved the search for diagnosis in several pathologies. Many studies have shown that the use of whole‐exome/genome sequencing in rare Mendelian diseases has a diagnostic yield between 30% and 50% depending on the disease. Methods Here, we present the case of an undiagnosed 6‐year‐old boy with severe encephalopathy of unclear cause, whose etiological diagnosis was achieved by whole‐genome sequencing. Results We found a novel variant that has not been previously reported in patients nor it has been described in GnomAD. Segregation analysis supports a de novo mutation, since it is not present in healthy parents. The change is predicted to be harmful to protein function, since it falls in the first quarter of the protein producing an altered reading frame and generating a premature stop codon. Additionally, the variant is classified as pathogenic according to ACMG criteria (PVS1, PM2, and PP3). Furthermore, there are several reported frameshift mutations in nearby codons as well as nonsense mutations that are predicted as pathogenic in other studies. Conclusion We found a novel de novo frameshift mutation in the PURA gene (MIM number 600473), c.151_161del, with sufficient evidence of its pathogenicity. Genetics Rosario Guecaimburú verfasserin aut Alejandra Tapié verfasserin aut Susana Vivas verfasserin aut Soledad Rodríguez verfasserin aut Martín Graña verfasserin aut Hugo Naya verfasserin aut Víctor Raggio verfasserin aut In Molecular Genetics & Genomic Medicine Wiley, 2014 9(2021), 5, Seite n/a-n/a (DE-627)769222234 (DE-600)2734884-2 23249269 nnns volume:9 year:2021 number:5 pages:n/a-n/a https://doi.org/10.1002/mgg3.1622 kostenfrei https://doaj.org/article/b48c21544e2d4df2996f1aeabfa70ca4 kostenfrei https://doi.org/10.1002/mgg3.1622 kostenfrei https://doaj.org/toc/2324-9269 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA 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 9 2021 5 n/a-n/a
allfieldsSound	10.1002/mgg3.1622 doi (DE-627)DOAJ057007322 (DE-599)DOAJb48c21544e2d4df2996f1aeabfa70ca4 DE-627 ger DE-627 rakwb eng QH426-470 Lucía Spangenberg verfasserin aut Novel frameshift mutation in PURA gene causes severe encephalopathy of unclear cause 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Background The etiology of many genetic diseases is challenging. This is especially true for developmental disorders of the central nervous system, since several genes can be involved. Many of such pathologies are considered rare diseases, since they affect less than 1 in 2000 people. Due to their low frequency, they present several difficulties for patients, from the delay in the diagnosis to the lack of treatments. Next‐generation sequencing techniques have improved the search for diagnosis in several pathologies. Many studies have shown that the use of whole‐exome/genome sequencing in rare Mendelian diseases has a diagnostic yield between 30% and 50% depending on the disease. Methods Here, we present the case of an undiagnosed 6‐year‐old boy with severe encephalopathy of unclear cause, whose etiological diagnosis was achieved by whole‐genome sequencing. Results We found a novel variant that has not been previously reported in patients nor it has been described in GnomAD. Segregation analysis supports a de novo mutation, since it is not present in healthy parents. The change is predicted to be harmful to protein function, since it falls in the first quarter of the protein producing an altered reading frame and generating a premature stop codon. Additionally, the variant is classified as pathogenic according to ACMG criteria (PVS1, PM2, and PP3). Furthermore, there are several reported frameshift mutations in nearby codons as well as nonsense mutations that are predicted as pathogenic in other studies. Conclusion We found a novel de novo frameshift mutation in the PURA gene (MIM number 600473), c.151_161del, with sufficient evidence of its pathogenicity. Genetics Rosario Guecaimburú verfasserin aut Alejandra Tapié verfasserin aut Susana Vivas verfasserin aut Soledad Rodríguez verfasserin aut Martín Graña verfasserin aut Hugo Naya verfasserin aut Víctor Raggio verfasserin aut In Molecular Genetics & Genomic Medicine Wiley, 2014 9(2021), 5, Seite n/a-n/a (DE-627)769222234 (DE-600)2734884-2 23249269 nnns volume:9 year:2021 number:5 pages:n/a-n/a https://doi.org/10.1002/mgg3.1622 kostenfrei https://doaj.org/article/b48c21544e2d4df2996f1aeabfa70ca4 kostenfrei https://doi.org/10.1002/mgg3.1622 kostenfrei https://doaj.org/toc/2324-9269 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA 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 9 2021 5 n/a-n/a
language	English
source	In Molecular Genetics & Genomic Medicine 9(2021), 5, Seite n/a-n/a volume:9 year:2021 number:5 pages:n/a-n/a
sourceStr	In Molecular Genetics & Genomic Medicine 9(2021), 5, Seite n/a-n/a volume:9 year:2021 number:5 pages:n/a-n/a
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	Genetics
isfreeaccess_bool	true
container_title	Molecular Genetics & Genomic Medicine
authorswithroles_txt_mv	Lucía Spangenberg @@aut@@ Rosario Guecaimburú @@aut@@ Alejandra Tapié @@aut@@ Susana Vivas @@aut@@ Soledad Rodríguez @@aut@@ Martín Graña @@aut@@ Hugo Naya @@aut@@ Víctor Raggio @@aut@@
publishDateDaySort_date	2021-01-01T00:00:00Z
hierarchy_top_id	769222234
id	DOAJ057007322
language_de	englisch
fullrecord	<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">DOAJ057007322</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230502135435.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">230227s2021 xx \|\|\|\|\|o 00\| \|\|eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1002/mgg3.1622</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)DOAJ057007322</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-599)DOAJb48c21544e2d4df2996f1aeabfa70ca4</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="050" ind1=" " ind2="0"><subfield code="a">QH426-470</subfield></datafield><datafield tag="100" ind1="0" ind2=" "><subfield code="a">Lucía Spangenberg</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Novel frameshift mutation in PURA gene causes severe encephalopathy of unclear cause</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2021</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">Text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Abstract Background The etiology of many genetic diseases is challenging. This is especially true for developmental disorders of the central nervous system, since several genes can be involved. Many of such pathologies are considered rare diseases, since they affect less than 1 in 2000 people. Due to their low frequency, they present several difficulties for patients, from the delay in the diagnosis to the lack of treatments. Next‐generation sequencing techniques have improved the search for diagnosis in several pathologies. Many studies have shown that the use of whole‐exome/genome sequencing in rare Mendelian diseases has a diagnostic yield between 30% and 50% depending on the disease. Methods Here, we present the case of an undiagnosed 6‐year‐old boy with severe encephalopathy of unclear cause, whose etiological diagnosis was achieved by whole‐genome sequencing. Results We found a novel variant that has not been previously reported in patients nor it has been described in GnomAD. Segregation analysis supports a de novo mutation, since it is not present in healthy parents. The change is predicted to be harmful to protein function, since it falls in the first quarter of the protein producing an altered reading frame and generating a premature stop codon. Additionally, the variant is classified as pathogenic according to ACMG criteria (PVS1, PM2, and PP3). Furthermore, there are several reported frameshift mutations in nearby codons as well as nonsense mutations that are predicted as pathogenic in other studies. Conclusion We found a novel de novo frameshift mutation in the PURA gene (MIM number 600473), c.151_161del, with sufficient evidence of its pathogenicity.</subfield></datafield><datafield tag="653" ind1=" " ind2="0"><subfield code="a">Genetics</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Rosario Guecaimburú</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Alejandra Tapié</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Susana Vivas</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Soledad Rodríguez</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield 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author	Lucía Spangenberg
spellingShingle	Lucía Spangenberg misc QH426-470 misc Genetics Novel frameshift mutation in PURA gene causes severe encephalopathy of unclear cause
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topic_title	QH426-470 Novel frameshift mutation in PURA gene causes severe encephalopathy of unclear cause
topic	misc QH426-470 misc Genetics
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title	Novel frameshift mutation in PURA gene causes severe encephalopathy of unclear cause
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title_full	Novel frameshift mutation in PURA gene causes severe encephalopathy of unclear cause
author_sort	Lucía Spangenberg
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author_browse	Lucía Spangenberg Rosario Guecaimburú Alejandra Tapié Susana Vivas Soledad Rodríguez Martín Graña Hugo Naya Víctor Raggio
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title_sort	novel frameshift mutation in pura gene causes severe encephalopathy of unclear cause
callnumber	QH426-470
title_auth	Novel frameshift mutation in PURA gene causes severe encephalopathy of unclear cause
abstract	Abstract Background The etiology of many genetic diseases is challenging. This is especially true for developmental disorders of the central nervous system, since several genes can be involved. Many of such pathologies are considered rare diseases, since they affect less than 1 in 2000 people. Due to their low frequency, they present several difficulties for patients, from the delay in the diagnosis to the lack of treatments. Next‐generation sequencing techniques have improved the search for diagnosis in several pathologies. Many studies have shown that the use of whole‐exome/genome sequencing in rare Mendelian diseases has a diagnostic yield between 30% and 50% depending on the disease. Methods Here, we present the case of an undiagnosed 6‐year‐old boy with severe encephalopathy of unclear cause, whose etiological diagnosis was achieved by whole‐genome sequencing. Results We found a novel variant that has not been previously reported in patients nor it has been described in GnomAD. Segregation analysis supports a de novo mutation, since it is not present in healthy parents. The change is predicted to be harmful to protein function, since it falls in the first quarter of the protein producing an altered reading frame and generating a premature stop codon. Additionally, the variant is classified as pathogenic according to ACMG criteria (PVS1, PM2, and PP3). Furthermore, there are several reported frameshift mutations in nearby codons as well as nonsense mutations that are predicted as pathogenic in other studies. Conclusion We found a novel de novo frameshift mutation in the PURA gene (MIM number 600473), c.151_161del, with sufficient evidence of its pathogenicity.
abstractGer	Abstract Background The etiology of many genetic diseases is challenging. This is especially true for developmental disorders of the central nervous system, since several genes can be involved. Many of such pathologies are considered rare diseases, since they affect less than 1 in 2000 people. Due to their low frequency, they present several difficulties for patients, from the delay in the diagnosis to the lack of treatments. Next‐generation sequencing techniques have improved the search for diagnosis in several pathologies. Many studies have shown that the use of whole‐exome/genome sequencing in rare Mendelian diseases has a diagnostic yield between 30% and 50% depending on the disease. Methods Here, we present the case of an undiagnosed 6‐year‐old boy with severe encephalopathy of unclear cause, whose etiological diagnosis was achieved by whole‐genome sequencing. Results We found a novel variant that has not been previously reported in patients nor it has been described in GnomAD. Segregation analysis supports a de novo mutation, since it is not present in healthy parents. The change is predicted to be harmful to protein function, since it falls in the first quarter of the protein producing an altered reading frame and generating a premature stop codon. Additionally, the variant is classified as pathogenic according to ACMG criteria (PVS1, PM2, and PP3). Furthermore, there are several reported frameshift mutations in nearby codons as well as nonsense mutations that are predicted as pathogenic in other studies. Conclusion We found a novel de novo frameshift mutation in the PURA gene (MIM number 600473), c.151_161del, with sufficient evidence of its pathogenicity.
abstract_unstemmed	Abstract Background The etiology of many genetic diseases is challenging. This is especially true for developmental disorders of the central nervous system, since several genes can be involved. Many of such pathologies are considered rare diseases, since they affect less than 1 in 2000 people. Due to their low frequency, they present several difficulties for patients, from the delay in the diagnosis to the lack of treatments. Next‐generation sequencing techniques have improved the search for diagnosis in several pathologies. Many studies have shown that the use of whole‐exome/genome sequencing in rare Mendelian diseases has a diagnostic yield between 30% and 50% depending on the disease. Methods Here, we present the case of an undiagnosed 6‐year‐old boy with severe encephalopathy of unclear cause, whose etiological diagnosis was achieved by whole‐genome sequencing. Results We found a novel variant that has not been previously reported in patients nor it has been described in GnomAD. Segregation analysis supports a de novo mutation, since it is not present in healthy parents. The change is predicted to be harmful to protein function, since it falls in the first quarter of the protein producing an altered reading frame and generating a premature stop codon. Additionally, the variant is classified as pathogenic according to ACMG criteria (PVS1, PM2, and PP3). Furthermore, there are several reported frameshift mutations in nearby codons as well as nonsense mutations that are predicted as pathogenic in other studies. Conclusion We found a novel de novo frameshift mutation in the PURA gene (MIM number 600473), c.151_161del, with sufficient evidence of its pathogenicity.
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container_issue	5
title_short	Novel frameshift mutation in PURA gene causes severe encephalopathy of unclear cause
url	https://doi.org/10.1002/mgg3.1622 https://doaj.org/article/b48c21544e2d4df2996f1aeabfa70ca4 https://doaj.org/toc/2324-9269
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up_date	2024-07-03T23:55:46.007Z
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fullrecord_marcxml	<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">DOAJ057007322</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230502135435.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">230227s2021 xx \|\|\|\|\|o 00\| \|\|eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1002/mgg3.1622</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)DOAJ057007322</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-599)DOAJb48c21544e2d4df2996f1aeabfa70ca4</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="050" ind1=" " ind2="0"><subfield code="a">QH426-470</subfield></datafield><datafield tag="100" ind1="0" ind2=" "><subfield code="a">Lucía Spangenberg</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Novel frameshift mutation in PURA gene causes severe encephalopathy of unclear cause</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2021</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">Text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Abstract Background The etiology of many genetic diseases is challenging. This is especially true for developmental disorders of the central nervous system, since several genes can be involved. Many of such pathologies are considered rare diseases, since they affect less than 1 in 2000 people. Due to their low frequency, they present several difficulties for patients, from the delay in the diagnosis to the lack of treatments. Next‐generation sequencing techniques have improved the search for diagnosis in several pathologies. Many studies have shown that the use of whole‐exome/genome sequencing in rare Mendelian diseases has a diagnostic yield between 30% and 50% depending on the disease. Methods Here, we present the case of an undiagnosed 6‐year‐old boy with severe encephalopathy of unclear cause, whose etiological diagnosis was achieved by whole‐genome sequencing. Results We found a novel variant that has not been previously reported in patients nor it has been described in GnomAD. Segregation analysis supports a de novo mutation, since it is not present in healthy parents. The change is predicted to be harmful to protein function, since it falls in the first quarter of the protein producing an altered reading frame and generating a premature stop codon. Additionally, the variant is classified as pathogenic according to ACMG criteria (PVS1, PM2, and PP3). Furthermore, there are several reported frameshift mutations in nearby codons as well as nonsense mutations that are predicted as pathogenic in other studies. 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Novel frameshift mutation in PURA gene causes severe encephalopathy of unclear cause

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