Pathogenic Variants in <i<STXBP1</i< and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes

Rett syndrome (RTT) is a neurodevelopmental disorder, affecting 1 in 10,000 girls. Intellectual disability, loss of speech and hand skills with stereotypies, seizures and ataxia are recurrent features. Stringent diagnostic criteria distinguish classical Rett, caused by a <i<MECP2</i< pat...
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Autor*in:	Francesca Cogliati [verfasserIn] Valentina Giorgini [verfasserIn] Maura Masciadri [verfasserIn] Maria Teresa Bonati [verfasserIn] Margherita Marchi [verfasserIn] Irene Cracco [verfasserIn] Davide Gentilini [verfasserIn] Angela Peron [verfasserIn] Miriam Nella Savini [verfasserIn] Luigina Spaccini [verfasserIn] Barbara Scelsa [verfasserIn] Silvia Maitz [verfasserIn] Edvige Veneselli [verfasserIn] Giulia Prato [verfasserIn] Maria Pintaudi [verfasserIn] Isabella Moroni [verfasserIn] Aglaia Vignoli [verfasserIn] Lidia Larizza [verfasserIn] Silvia Russo [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2019

Schlagwörter:	atypical RTT STXBP1 GABAa receptors genes NGS

Übergeordnetes Werk:	In: International Journal of Molecular Sciences - MDPI AG, 2003, 20(2019), 15, p 3621
Übergeordnetes Werk:	volume:20 ; year:2019 ; number:15, p 3621

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.3390/ijms20153621

Katalog-ID:	DOAJ052350290

Internformat


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520			\|a Rett syndrome (RTT) is a neurodevelopmental disorder, affecting 1 in 10,000 girls. Intellectual disability, loss of speech and hand skills with stereotypies, seizures and ataxia are recurrent features. Stringent diagnostic criteria distinguish classical Rett, caused by a <i<MECP2</i< pathogenic variant in 95% of cases, from atypical girls, 40−73% carrying <i<MECP2</i< variants, and rarely <i<CDKL5</i< and <i<FOXG1</i< alterations. A large fraction of atypical and RTT-like patients remain without genetic cause. Next Generation Sequencing (NGS) targeted to multigene panels/Whole Exome Sequencing (WES) in 137 girls suspected for RTT led to the identification of a de novo variant in <i<STXBP1</i< gene in four atypical RTT and two RTT-like girls. De novo pathogenic variants—one in <i<GABRB2</i< and, for first time, one in <i<GABRG2</i<—were disclosed in classic and atypical RTT patients. Interestingly, the <i<GABRG2</i< variant occurred at low rate percentage in blood and buccal swabs, reinforcing the relevance of mosaicism in neurological disorders. We confirm the role of <i<STXBP1</i< in atypical RTT/RTT-like patients if early psychomotor delay and epilepsy before 2 years of age are observed, indicating its inclusion in the RTT diagnostic panel. Lastly, we report pathogenic variants in Gamma-aminobutyric acid-A (GABAa) receptors as a cause of atypical/classic RTT phenotype, in accordance with the deregulation of GABAergic pathway observed in <i<MECP2</i< defective <i<in vitro</i< and <i<in vivo</i< models.
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allfields	10.3390/ijms20153621 doi (DE-627)DOAJ052350290 (DE-599)DOAJ7ee1e31a45424eeca3a23df54c9fdc23 DE-627 ger DE-627 rakwb eng QH301-705.5 QD1-999 Francesca Cogliati verfasserin aut Pathogenic Variants in <i<STXBP1</i< and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Rett syndrome (RTT) is a neurodevelopmental disorder, affecting 1 in 10,000 girls. Intellectual disability, loss of speech and hand skills with stereotypies, seizures and ataxia are recurrent features. Stringent diagnostic criteria distinguish classical Rett, caused by a <i<MECP2</i< pathogenic variant in 95% of cases, from atypical girls, 40−73% carrying <i<MECP2</i< variants, and rarely <i<CDKL5</i< and <i<FOXG1</i< alterations. A large fraction of atypical and RTT-like patients remain without genetic cause. Next Generation Sequencing (NGS) targeted to multigene panels/Whole Exome Sequencing (WES) in 137 girls suspected for RTT led to the identification of a de novo variant in <i<STXBP1</i< gene in four atypical RTT and two RTT-like girls. De novo pathogenic variants—one in <i<GABRB2</i< and, for first time, one in <i<GABRG2</i<—were disclosed in classic and atypical RTT patients. Interestingly, the <i<GABRG2</i< variant occurred at low rate percentage in blood and buccal swabs, reinforcing the relevance of mosaicism in neurological disorders. We confirm the role of <i<STXBP1</i< in atypical RTT/RTT-like patients if early psychomotor delay and epilepsy before 2 years of age are observed, indicating its inclusion in the RTT diagnostic panel. Lastly, we report pathogenic variants in Gamma-aminobutyric acid-A (GABAa) receptors as a cause of atypical/classic RTT phenotype, in accordance with the deregulation of GABAergic pathway observed in <i<MECP2</i< defective <i<in vitro</i< and <i<in vivo</i< models. atypical RTT STXBP1 GABAa receptors genes NGS Biology (General) Chemistry Valentina Giorgini verfasserin aut Maura Masciadri verfasserin aut Maria Teresa Bonati verfasserin aut Margherita Marchi verfasserin aut Irene Cracco verfasserin aut Davide Gentilini verfasserin aut Angela Peron verfasserin aut Miriam Nella Savini verfasserin aut Luigina Spaccini verfasserin aut Barbara Scelsa verfasserin aut Silvia Maitz verfasserin aut Edvige Veneselli verfasserin aut Giulia Prato verfasserin aut Maria Pintaudi verfasserin aut Isabella Moroni verfasserin aut Aglaia Vignoli verfasserin aut Lidia Larizza verfasserin aut Silvia Russo verfasserin aut In International Journal of Molecular Sciences MDPI AG, 2003 20(2019), 15, p 3621 (DE-627)316340715 (DE-600)2019364-6 14220067 nnns volume:20 year:2019 number:15, p 3621 https://doi.org/10.3390/ijms20153621 kostenfrei https://doaj.org/article/7ee1e31a45424eeca3a23df54c9fdc23 kostenfrei https://www.mdpi.com/1422-0067/20/15/3621 kostenfrei https://doaj.org/toc/1422-0067 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_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_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 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 20 2019 15, p 3621
spelling	10.3390/ijms20153621 doi (DE-627)DOAJ052350290 (DE-599)DOAJ7ee1e31a45424eeca3a23df54c9fdc23 DE-627 ger DE-627 rakwb eng QH301-705.5 QD1-999 Francesca Cogliati verfasserin aut Pathogenic Variants in <i<STXBP1</i< and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Rett syndrome (RTT) is a neurodevelopmental disorder, affecting 1 in 10,000 girls. Intellectual disability, loss of speech and hand skills with stereotypies, seizures and ataxia are recurrent features. Stringent diagnostic criteria distinguish classical Rett, caused by a <i<MECP2</i< pathogenic variant in 95% of cases, from atypical girls, 40−73% carrying <i<MECP2</i< variants, and rarely <i<CDKL5</i< and <i<FOXG1</i< alterations. A large fraction of atypical and RTT-like patients remain without genetic cause. Next Generation Sequencing (NGS) targeted to multigene panels/Whole Exome Sequencing (WES) in 137 girls suspected for RTT led to the identification of a de novo variant in <i<STXBP1</i< gene in four atypical RTT and two RTT-like girls. De novo pathogenic variants—one in <i<GABRB2</i< and, for first time, one in <i<GABRG2</i<—were disclosed in classic and atypical RTT patients. Interestingly, the <i<GABRG2</i< variant occurred at low rate percentage in blood and buccal swabs, reinforcing the relevance of mosaicism in neurological disorders. We confirm the role of <i<STXBP1</i< in atypical RTT/RTT-like patients if early psychomotor delay and epilepsy before 2 years of age are observed, indicating its inclusion in the RTT diagnostic panel. Lastly, we report pathogenic variants in Gamma-aminobutyric acid-A (GABAa) receptors as a cause of atypical/classic RTT phenotype, in accordance with the deregulation of GABAergic pathway observed in <i<MECP2</i< defective <i<in vitro</i< and <i<in vivo</i< models. atypical RTT STXBP1 GABAa receptors genes NGS Biology (General) Chemistry Valentina Giorgini verfasserin aut Maura Masciadri verfasserin aut Maria Teresa Bonati verfasserin aut Margherita Marchi verfasserin aut Irene Cracco verfasserin aut Davide Gentilini verfasserin aut Angela Peron verfasserin aut Miriam Nella Savini verfasserin aut Luigina Spaccini verfasserin aut Barbara Scelsa verfasserin aut Silvia Maitz verfasserin aut Edvige Veneselli verfasserin aut Giulia Prato verfasserin aut Maria Pintaudi verfasserin aut Isabella Moroni verfasserin aut Aglaia Vignoli verfasserin aut Lidia Larizza verfasserin aut Silvia Russo verfasserin aut In International Journal of Molecular Sciences MDPI AG, 2003 20(2019), 15, p 3621 (DE-627)316340715 (DE-600)2019364-6 14220067 nnns volume:20 year:2019 number:15, p 3621 https://doi.org/10.3390/ijms20153621 kostenfrei https://doaj.org/article/7ee1e31a45424eeca3a23df54c9fdc23 kostenfrei https://www.mdpi.com/1422-0067/20/15/3621 kostenfrei https://doaj.org/toc/1422-0067 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_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_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 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 20 2019 15, p 3621
allfields_unstemmed	10.3390/ijms20153621 doi (DE-627)DOAJ052350290 (DE-599)DOAJ7ee1e31a45424eeca3a23df54c9fdc23 DE-627 ger DE-627 rakwb eng QH301-705.5 QD1-999 Francesca Cogliati verfasserin aut Pathogenic Variants in <i<STXBP1</i< and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Rett syndrome (RTT) is a neurodevelopmental disorder, affecting 1 in 10,000 girls. Intellectual disability, loss of speech and hand skills with stereotypies, seizures and ataxia are recurrent features. Stringent diagnostic criteria distinguish classical Rett, caused by a <i<MECP2</i< pathogenic variant in 95% of cases, from atypical girls, 40−73% carrying <i<MECP2</i< variants, and rarely <i<CDKL5</i< and <i<FOXG1</i< alterations. A large fraction of atypical and RTT-like patients remain without genetic cause. Next Generation Sequencing (NGS) targeted to multigene panels/Whole Exome Sequencing (WES) in 137 girls suspected for RTT led to the identification of a de novo variant in <i<STXBP1</i< gene in four atypical RTT and two RTT-like girls. De novo pathogenic variants—one in <i<GABRB2</i< and, for first time, one in <i<GABRG2</i<—were disclosed in classic and atypical RTT patients. Interestingly, the <i<GABRG2</i< variant occurred at low rate percentage in blood and buccal swabs, reinforcing the relevance of mosaicism in neurological disorders. We confirm the role of <i<STXBP1</i< in atypical RTT/RTT-like patients if early psychomotor delay and epilepsy before 2 years of age are observed, indicating its inclusion in the RTT diagnostic panel. Lastly, we report pathogenic variants in Gamma-aminobutyric acid-A (GABAa) receptors as a cause of atypical/classic RTT phenotype, in accordance with the deregulation of GABAergic pathway observed in <i<MECP2</i< defective <i<in vitro</i< and <i<in vivo</i< models. atypical RTT STXBP1 GABAa receptors genes NGS Biology (General) Chemistry Valentina Giorgini verfasserin aut Maura Masciadri verfasserin aut Maria Teresa Bonati verfasserin aut Margherita Marchi verfasserin aut Irene Cracco verfasserin aut Davide Gentilini verfasserin aut Angela Peron verfasserin aut Miriam Nella Savini verfasserin aut Luigina Spaccini verfasserin aut Barbara Scelsa verfasserin aut Silvia Maitz verfasserin aut Edvige Veneselli verfasserin aut Giulia Prato verfasserin aut Maria Pintaudi verfasserin aut Isabella Moroni verfasserin aut Aglaia Vignoli verfasserin aut Lidia Larizza verfasserin aut Silvia Russo verfasserin aut In International Journal of Molecular Sciences MDPI AG, 2003 20(2019), 15, p 3621 (DE-627)316340715 (DE-600)2019364-6 14220067 nnns volume:20 year:2019 number:15, p 3621 https://doi.org/10.3390/ijms20153621 kostenfrei https://doaj.org/article/7ee1e31a45424eeca3a23df54c9fdc23 kostenfrei https://www.mdpi.com/1422-0067/20/15/3621 kostenfrei https://doaj.org/toc/1422-0067 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_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_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 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 20 2019 15, p 3621
allfieldsGer	10.3390/ijms20153621 doi (DE-627)DOAJ052350290 (DE-599)DOAJ7ee1e31a45424eeca3a23df54c9fdc23 DE-627 ger DE-627 rakwb eng QH301-705.5 QD1-999 Francesca Cogliati verfasserin aut Pathogenic Variants in <i<STXBP1</i< and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Rett syndrome (RTT) is a neurodevelopmental disorder, affecting 1 in 10,000 girls. Intellectual disability, loss of speech and hand skills with stereotypies, seizures and ataxia are recurrent features. Stringent diagnostic criteria distinguish classical Rett, caused by a <i<MECP2</i< pathogenic variant in 95% of cases, from atypical girls, 40−73% carrying <i<MECP2</i< variants, and rarely <i<CDKL5</i< and <i<FOXG1</i< alterations. A large fraction of atypical and RTT-like patients remain without genetic cause. Next Generation Sequencing (NGS) targeted to multigene panels/Whole Exome Sequencing (WES) in 137 girls suspected for RTT led to the identification of a de novo variant in <i<STXBP1</i< gene in four atypical RTT and two RTT-like girls. De novo pathogenic variants—one in <i<GABRB2</i< and, for first time, one in <i<GABRG2</i<—were disclosed in classic and atypical RTT patients. Interestingly, the <i<GABRG2</i< variant occurred at low rate percentage in blood and buccal swabs, reinforcing the relevance of mosaicism in neurological disorders. We confirm the role of <i<STXBP1</i< in atypical RTT/RTT-like patients if early psychomotor delay and epilepsy before 2 years of age are observed, indicating its inclusion in the RTT diagnostic panel. Lastly, we report pathogenic variants in Gamma-aminobutyric acid-A (GABAa) receptors as a cause of atypical/classic RTT phenotype, in accordance with the deregulation of GABAergic pathway observed in <i<MECP2</i< defective <i<in vitro</i< and <i<in vivo</i< models. atypical RTT STXBP1 GABAa receptors genes NGS Biology (General) Chemistry Valentina Giorgini verfasserin aut Maura Masciadri verfasserin aut Maria Teresa Bonati verfasserin aut Margherita Marchi verfasserin aut Irene Cracco verfasserin aut Davide Gentilini verfasserin aut Angela Peron verfasserin aut Miriam Nella Savini verfasserin aut Luigina Spaccini verfasserin aut Barbara Scelsa verfasserin aut Silvia Maitz verfasserin aut Edvige Veneselli verfasserin aut Giulia Prato verfasserin aut Maria Pintaudi verfasserin aut Isabella Moroni verfasserin aut Aglaia Vignoli verfasserin aut Lidia Larizza verfasserin aut Silvia Russo verfasserin aut In International Journal of Molecular Sciences MDPI AG, 2003 20(2019), 15, p 3621 (DE-627)316340715 (DE-600)2019364-6 14220067 nnns volume:20 year:2019 number:15, p 3621 https://doi.org/10.3390/ijms20153621 kostenfrei https://doaj.org/article/7ee1e31a45424eeca3a23df54c9fdc23 kostenfrei https://www.mdpi.com/1422-0067/20/15/3621 kostenfrei https://doaj.org/toc/1422-0067 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_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_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 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 20 2019 15, p 3621
allfieldsSound	10.3390/ijms20153621 doi (DE-627)DOAJ052350290 (DE-599)DOAJ7ee1e31a45424eeca3a23df54c9fdc23 DE-627 ger DE-627 rakwb eng QH301-705.5 QD1-999 Francesca Cogliati verfasserin aut Pathogenic Variants in <i<STXBP1</i< and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Rett syndrome (RTT) is a neurodevelopmental disorder, affecting 1 in 10,000 girls. Intellectual disability, loss of speech and hand skills with stereotypies, seizures and ataxia are recurrent features. Stringent diagnostic criteria distinguish classical Rett, caused by a <i<MECP2</i< pathogenic variant in 95% of cases, from atypical girls, 40−73% carrying <i<MECP2</i< variants, and rarely <i<CDKL5</i< and <i<FOXG1</i< alterations. A large fraction of atypical and RTT-like patients remain without genetic cause. Next Generation Sequencing (NGS) targeted to multigene panels/Whole Exome Sequencing (WES) in 137 girls suspected for RTT led to the identification of a de novo variant in <i<STXBP1</i< gene in four atypical RTT and two RTT-like girls. De novo pathogenic variants—one in <i<GABRB2</i< and, for first time, one in <i<GABRG2</i<—were disclosed in classic and atypical RTT patients. Interestingly, the <i<GABRG2</i< variant occurred at low rate percentage in blood and buccal swabs, reinforcing the relevance of mosaicism in neurological disorders. We confirm the role of <i<STXBP1</i< in atypical RTT/RTT-like patients if early psychomotor delay and epilepsy before 2 years of age are observed, indicating its inclusion in the RTT diagnostic panel. Lastly, we report pathogenic variants in Gamma-aminobutyric acid-A (GABAa) receptors as a cause of atypical/classic RTT phenotype, in accordance with the deregulation of GABAergic pathway observed in <i<MECP2</i< defective <i<in vitro</i< and <i<in vivo</i< models. atypical RTT STXBP1 GABAa receptors genes NGS Biology (General) Chemistry Valentina Giorgini verfasserin aut Maura Masciadri verfasserin aut Maria Teresa Bonati verfasserin aut Margherita Marchi verfasserin aut Irene Cracco verfasserin aut Davide Gentilini verfasserin aut Angela Peron verfasserin aut Miriam Nella Savini verfasserin aut Luigina Spaccini verfasserin aut Barbara Scelsa verfasserin aut Silvia Maitz verfasserin aut Edvige Veneselli verfasserin aut Giulia Prato verfasserin aut Maria Pintaudi verfasserin aut Isabella Moroni verfasserin aut Aglaia Vignoli verfasserin aut Lidia Larizza verfasserin aut Silvia Russo verfasserin aut In International Journal of Molecular Sciences MDPI AG, 2003 20(2019), 15, p 3621 (DE-627)316340715 (DE-600)2019364-6 14220067 nnns volume:20 year:2019 number:15, p 3621 https://doi.org/10.3390/ijms20153621 kostenfrei https://doaj.org/article/7ee1e31a45424eeca3a23df54c9fdc23 kostenfrei https://www.mdpi.com/1422-0067/20/15/3621 kostenfrei https://doaj.org/toc/1422-0067 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_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_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 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 20 2019 15, p 3621
language	English
source	In International Journal of Molecular Sciences 20(2019), 15, p 3621 volume:20 year:2019 number:15, p 3621
sourceStr	In International Journal of Molecular Sciences 20(2019), 15, p 3621 volume:20 year:2019 number:15, p 3621
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	atypical RTT STXBP1 GABAa receptors genes NGS Biology (General) Chemistry
isfreeaccess_bool	true
container_title	International Journal of Molecular Sciences
authorswithroles_txt_mv	Francesca Cogliati @@aut@@ Valentina Giorgini @@aut@@ Maura Masciadri @@aut@@ Maria Teresa Bonati @@aut@@ Margherita Marchi @@aut@@ Irene Cracco @@aut@@ Davide Gentilini @@aut@@ Angela Peron @@aut@@ Miriam Nella Savini @@aut@@ Luigina Spaccini @@aut@@ Barbara Scelsa @@aut@@ Silvia Maitz @@aut@@ Edvige Veneselli @@aut@@ Giulia Prato @@aut@@ Maria Pintaudi @@aut@@ Isabella Moroni @@aut@@ Aglaia Vignoli @@aut@@ Lidia Larizza @@aut@@ Silvia Russo @@aut@@
publishDateDaySort_date	2019-01-01T00:00:00Z
hierarchy_top_id	316340715
id	DOAJ052350290
language_de	englisch
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callnumber-first	Q - Science
author	Francesca Cogliati
spellingShingle	Francesca Cogliati misc QH301-705.5 misc QD1-999 misc atypical RTT misc STXBP1 misc GABAa receptors genes misc NGS misc Biology (General) misc Chemistry Pathogenic Variants in <i<STXBP1</i< and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes
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topic_title	QH301-705.5 QD1-999 Pathogenic Variants in <i<STXBP1</i< and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes atypical RTT STXBP1 GABAa receptors genes NGS
topic	misc QH301-705.5 misc QD1-999 misc atypical RTT misc STXBP1 misc GABAa receptors genes misc NGS misc Biology (General) misc Chemistry
topic_unstemmed	misc QH301-705.5 misc QD1-999 misc atypical RTT misc STXBP1 misc GABAa receptors genes misc NGS misc Biology (General) misc Chemistry
topic_browse	misc QH301-705.5 misc QD1-999 misc atypical RTT misc STXBP1 misc GABAa receptors genes misc NGS misc Biology (General) misc Chemistry
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title	Pathogenic Variants in <i<STXBP1</i< and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes
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title_full	Pathogenic Variants in <i<STXBP1</i< and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes
author_sort	Francesca Cogliati
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author_browse	Francesca Cogliati Valentina Giorgini Maura Masciadri Maria Teresa Bonati Margherita Marchi Irene Cracco Davide Gentilini Angela Peron Miriam Nella Savini Luigina Spaccini Barbara Scelsa Silvia Maitz Edvige Veneselli Giulia Prato Maria Pintaudi Isabella Moroni Aglaia Vignoli Lidia Larizza Silvia Russo
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title_sort	pathogenic variants in <i<stxbp1</i< and in genes for gabaa receptor subunities cause atypical rett/rett-like phenotypes
callnumber	QH301-705.5
title_auth	Pathogenic Variants in <i<STXBP1</i< and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes
abstract	Rett syndrome (RTT) is a neurodevelopmental disorder, affecting 1 in 10,000 girls. Intellectual disability, loss of speech and hand skills with stereotypies, seizures and ataxia are recurrent features. Stringent diagnostic criteria distinguish classical Rett, caused by a <i<MECP2</i< pathogenic variant in 95% of cases, from atypical girls, 40−73% carrying <i<MECP2</i< variants, and rarely <i<CDKL5</i< and <i<FOXG1</i< alterations. A large fraction of atypical and RTT-like patients remain without genetic cause. Next Generation Sequencing (NGS) targeted to multigene panels/Whole Exome Sequencing (WES) in 137 girls suspected for RTT led to the identification of a de novo variant in <i<STXBP1</i< gene in four atypical RTT and two RTT-like girls. De novo pathogenic variants—one in <i<GABRB2</i< and, for first time, one in <i<GABRG2</i<—were disclosed in classic and atypical RTT patients. Interestingly, the <i<GABRG2</i< variant occurred at low rate percentage in blood and buccal swabs, reinforcing the relevance of mosaicism in neurological disorders. We confirm the role of <i<STXBP1</i< in atypical RTT/RTT-like patients if early psychomotor delay and epilepsy before 2 years of age are observed, indicating its inclusion in the RTT diagnostic panel. Lastly, we report pathogenic variants in Gamma-aminobutyric acid-A (GABAa) receptors as a cause of atypical/classic RTT phenotype, in accordance with the deregulation of GABAergic pathway observed in <i<MECP2</i< defective <i<in vitro</i< and <i<in vivo</i< models.
abstractGer	Rett syndrome (RTT) is a neurodevelopmental disorder, affecting 1 in 10,000 girls. Intellectual disability, loss of speech and hand skills with stereotypies, seizures and ataxia are recurrent features. Stringent diagnostic criteria distinguish classical Rett, caused by a <i<MECP2</i< pathogenic variant in 95% of cases, from atypical girls, 40−73% carrying <i<MECP2</i< variants, and rarely <i<CDKL5</i< and <i<FOXG1</i< alterations. A large fraction of atypical and RTT-like patients remain without genetic cause. Next Generation Sequencing (NGS) targeted to multigene panels/Whole Exome Sequencing (WES) in 137 girls suspected for RTT led to the identification of a de novo variant in <i<STXBP1</i< gene in four atypical RTT and two RTT-like girls. De novo pathogenic variants—one in <i<GABRB2</i< and, for first time, one in <i<GABRG2</i<—were disclosed in classic and atypical RTT patients. Interestingly, the <i<GABRG2</i< variant occurred at low rate percentage in blood and buccal swabs, reinforcing the relevance of mosaicism in neurological disorders. We confirm the role of <i<STXBP1</i< in atypical RTT/RTT-like patients if early psychomotor delay and epilepsy before 2 years of age are observed, indicating its inclusion in the RTT diagnostic panel. Lastly, we report pathogenic variants in Gamma-aminobutyric acid-A (GABAa) receptors as a cause of atypical/classic RTT phenotype, in accordance with the deregulation of GABAergic pathway observed in <i<MECP2</i< defective <i<in vitro</i< and <i<in vivo</i< models.
abstract_unstemmed	Rett syndrome (RTT) is a neurodevelopmental disorder, affecting 1 in 10,000 girls. Intellectual disability, loss of speech and hand skills with stereotypies, seizures and ataxia are recurrent features. Stringent diagnostic criteria distinguish classical Rett, caused by a <i<MECP2</i< pathogenic variant in 95% of cases, from atypical girls, 40−73% carrying <i<MECP2</i< variants, and rarely <i<CDKL5</i< and <i<FOXG1</i< alterations. A large fraction of atypical and RTT-like patients remain without genetic cause. Next Generation Sequencing (NGS) targeted to multigene panels/Whole Exome Sequencing (WES) in 137 girls suspected for RTT led to the identification of a de novo variant in <i<STXBP1</i< gene in four atypical RTT and two RTT-like girls. De novo pathogenic variants—one in <i<GABRB2</i< and, for first time, one in <i<GABRG2</i<—were disclosed in classic and atypical RTT patients. Interestingly, the <i<GABRG2</i< variant occurred at low rate percentage in blood and buccal swabs, reinforcing the relevance of mosaicism in neurological disorders. We confirm the role of <i<STXBP1</i< in atypical RTT/RTT-like patients if early psychomotor delay and epilepsy before 2 years of age are observed, indicating its inclusion in the RTT diagnostic panel. Lastly, we report pathogenic variants in Gamma-aminobutyric acid-A (GABAa) receptors as a cause of atypical/classic RTT phenotype, in accordance with the deregulation of GABAergic pathway observed in <i<MECP2</i< defective <i<in vitro</i< and <i<in vivo</i< models.
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title_short	Pathogenic Variants in <i<STXBP1</i< and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes
url	https://doi.org/10.3390/ijms20153621 https://doaj.org/article/7ee1e31a45424eeca3a23df54c9fdc23 https://www.mdpi.com/1422-0067/20/15/3621 https://doaj.org/toc/1422-0067
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author2Str	Valentina Giorgini Maura Masciadri Maria Teresa Bonati Margherita Marchi Irene Cracco Davide Gentilini Angela Peron Miriam Nella Savini Luigina Spaccini Barbara Scelsa Silvia Maitz Edvige Veneselli Giulia Prato Maria Pintaudi Isabella Moroni Aglaia Vignoli Lidia Larizza Silvia Russo
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Pathogenic Variants in <i<STXBP1</i< and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes

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