Identification of a novel de novo mutation in the CTNNB1 gene in an Iranian patient with intellectual disability

Abstract CTNNB1 encodes for the β-catenin protein, a component of the cadherin adhesion complex, which regulates cell–cell adhesion and gene expression in the canonical Wnt signaling pathway. Mutations in CTNNB1 have been reported to be associated with cancer and mental disorders. Recently, loss-of-...
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Autor*in:	Dashti, Sepide [verfasserIn] Salehpour, Shadab Ghasemi, Mohammad-Reza Sadeghi, Hossein Rostami, Masoumeh Hashemi-Gorji, Farzad Mirfakhraie, Reza Yassaee, Vahid Reza Miryounesi, Mohammad

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2022

Schlagwörter:	gene Intellectual disability Hypotonia Motor delay

Anmerkung:	© Fondazione Società Italiana di Neurologia 2022

Übergeordnetes Werk:	Enthalten in: Neurological sciences - Milano : Springer, 2000, 43(2022), 4 vom: 31. Jan., Seite 2859-2863
Übergeordnetes Werk:	volume:43 ; year:2022 ; number:4 ; day:31 ; month:01 ; pages:2859-2863

Links:	Volltext

DOI / URN:	10.1007/s10072-022-05904-4

Katalog-ID:	SPR046474234

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520			\|a Abstract CTNNB1 encodes for the β-catenin protein, a component of the cadherin adhesion complex, which regulates cell–cell adhesion and gene expression in the canonical Wnt signaling pathway. Mutations in CTNNB1 have been reported to be associated with cancer and mental disorders. Recently, loss-of-function mutations in CTNNB1 have been observed in patients with intellectual disability and some other clinical manifestations including motor and language delays, microcephaly, and mild visual defects. We report an 8-year-old Iranian girl with intellectual disability, hypotonia, impaired vision such as vitreomacular adhesion, motor delay, and speech delay. A novel, de novo nonsense mutation (c.1014G > A; p.Trp338Ter) in exon 7 of the CTNNB1 (NM_001904) gene was detected and confirmed by whole-exome sequencing and Sanger sequencing, respectively. This study helps to expand the growing list of loss-of-function mutations known in the CTNNB1 gene.
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allfields	10.1007/s10072-022-05904-4 doi (DE-627)SPR046474234 (SPR)s10072-022-05904-4-e DE-627 ger DE-627 rakwb eng Dashti, Sepide verfasserin aut Identification of a novel de novo mutation in the CTNNB1 gene in an Iranian patient with intellectual disability 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Fondazione Società Italiana di Neurologia 2022 Abstract CTNNB1 encodes for the β-catenin protein, a component of the cadherin adhesion complex, which regulates cell–cell adhesion and gene expression in the canonical Wnt signaling pathway. Mutations in CTNNB1 have been reported to be associated with cancer and mental disorders. Recently, loss-of-function mutations in CTNNB1 have been observed in patients with intellectual disability and some other clinical manifestations including motor and language delays, microcephaly, and mild visual defects. We report an 8-year-old Iranian girl with intellectual disability, hypotonia, impaired vision such as vitreomacular adhesion, motor delay, and speech delay. A novel, de novo nonsense mutation (c.1014G > A; p.Trp338Ter) in exon 7 of the CTNNB1 (NM_001904) gene was detected and confirmed by whole-exome sequencing and Sanger sequencing, respectively. This study helps to expand the growing list of loss-of-function mutations known in the CTNNB1 gene. gene (dpeaa)DE-He213 Intellectual disability (dpeaa)DE-He213 Hypotonia (dpeaa)DE-He213 Motor delay (dpeaa)DE-He213 Salehpour, Shadab (orcid)0000-0002-0277-809X aut Ghasemi, Mohammad-Reza (orcid)0000-0002-3183-5495 aut Sadeghi, Hossein (orcid)0000-0001-9599-6151 aut Rostami, Masoumeh aut Hashemi-Gorji, Farzad (orcid)0000-0002-9996-9406 aut Mirfakhraie, Reza (orcid)0000-0003-1709-8975 aut Yassaee, Vahid Reza (orcid)0000-0002-1879-3905 aut Miryounesi, Mohammad (orcid)0000-0003-4705-3794 aut Enthalten in Neurological sciences Milano : Springer, 2000 43(2022), 4 vom: 31. Jan., Seite 2859-2863 (DE-627)300187025 (DE-600)1481772-X 1590-3478 nnns volume:43 year:2022 number:4 day:31 month:01 pages:2859-2863 https://dx.doi.org/10.1007/s10072-022-05904-4 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 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_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 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_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 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_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 AR 43 2022 4 31 01 2859-2863
spelling	10.1007/s10072-022-05904-4 doi (DE-627)SPR046474234 (SPR)s10072-022-05904-4-e DE-627 ger DE-627 rakwb eng Dashti, Sepide verfasserin aut Identification of a novel de novo mutation in the CTNNB1 gene in an Iranian patient with intellectual disability 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Fondazione Società Italiana di Neurologia 2022 Abstract CTNNB1 encodes for the β-catenin protein, a component of the cadherin adhesion complex, which regulates cell–cell adhesion and gene expression in the canonical Wnt signaling pathway. Mutations in CTNNB1 have been reported to be associated with cancer and mental disorders. Recently, loss-of-function mutations in CTNNB1 have been observed in patients with intellectual disability and some other clinical manifestations including motor and language delays, microcephaly, and mild visual defects. We report an 8-year-old Iranian girl with intellectual disability, hypotonia, impaired vision such as vitreomacular adhesion, motor delay, and speech delay. A novel, de novo nonsense mutation (c.1014G > A; p.Trp338Ter) in exon 7 of the CTNNB1 (NM_001904) gene was detected and confirmed by whole-exome sequencing and Sanger sequencing, respectively. This study helps to expand the growing list of loss-of-function mutations known in the CTNNB1 gene. gene (dpeaa)DE-He213 Intellectual disability (dpeaa)DE-He213 Hypotonia (dpeaa)DE-He213 Motor delay (dpeaa)DE-He213 Salehpour, Shadab (orcid)0000-0002-0277-809X aut Ghasemi, Mohammad-Reza (orcid)0000-0002-3183-5495 aut Sadeghi, Hossein (orcid)0000-0001-9599-6151 aut Rostami, Masoumeh aut Hashemi-Gorji, Farzad (orcid)0000-0002-9996-9406 aut Mirfakhraie, Reza (orcid)0000-0003-1709-8975 aut Yassaee, Vahid Reza (orcid)0000-0002-1879-3905 aut Miryounesi, Mohammad (orcid)0000-0003-4705-3794 aut Enthalten in Neurological sciences Milano : Springer, 2000 43(2022), 4 vom: 31. Jan., Seite 2859-2863 (DE-627)300187025 (DE-600)1481772-X 1590-3478 nnns volume:43 year:2022 number:4 day:31 month:01 pages:2859-2863 https://dx.doi.org/10.1007/s10072-022-05904-4 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 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_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 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_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 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_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 AR 43 2022 4 31 01 2859-2863
allfields_unstemmed	10.1007/s10072-022-05904-4 doi (DE-627)SPR046474234 (SPR)s10072-022-05904-4-e DE-627 ger DE-627 rakwb eng Dashti, Sepide verfasserin aut Identification of a novel de novo mutation in the CTNNB1 gene in an Iranian patient with intellectual disability 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Fondazione Società Italiana di Neurologia 2022 Abstract CTNNB1 encodes for the β-catenin protein, a component of the cadherin adhesion complex, which regulates cell–cell adhesion and gene expression in the canonical Wnt signaling pathway. Mutations in CTNNB1 have been reported to be associated with cancer and mental disorders. Recently, loss-of-function mutations in CTNNB1 have been observed in patients with intellectual disability and some other clinical manifestations including motor and language delays, microcephaly, and mild visual defects. We report an 8-year-old Iranian girl with intellectual disability, hypotonia, impaired vision such as vitreomacular adhesion, motor delay, and speech delay. A novel, de novo nonsense mutation (c.1014G > A; p.Trp338Ter) in exon 7 of the CTNNB1 (NM_001904) gene was detected and confirmed by whole-exome sequencing and Sanger sequencing, respectively. This study helps to expand the growing list of loss-of-function mutations known in the CTNNB1 gene. gene (dpeaa)DE-He213 Intellectual disability (dpeaa)DE-He213 Hypotonia (dpeaa)DE-He213 Motor delay (dpeaa)DE-He213 Salehpour, Shadab (orcid)0000-0002-0277-809X aut Ghasemi, Mohammad-Reza (orcid)0000-0002-3183-5495 aut Sadeghi, Hossein (orcid)0000-0001-9599-6151 aut Rostami, Masoumeh aut Hashemi-Gorji, Farzad (orcid)0000-0002-9996-9406 aut Mirfakhraie, Reza (orcid)0000-0003-1709-8975 aut Yassaee, Vahid Reza (orcid)0000-0002-1879-3905 aut Miryounesi, Mohammad (orcid)0000-0003-4705-3794 aut Enthalten in Neurological sciences Milano : Springer, 2000 43(2022), 4 vom: 31. Jan., Seite 2859-2863 (DE-627)300187025 (DE-600)1481772-X 1590-3478 nnns volume:43 year:2022 number:4 day:31 month:01 pages:2859-2863 https://dx.doi.org/10.1007/s10072-022-05904-4 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 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_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 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_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 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_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 AR 43 2022 4 31 01 2859-2863
allfieldsGer	10.1007/s10072-022-05904-4 doi (DE-627)SPR046474234 (SPR)s10072-022-05904-4-e DE-627 ger DE-627 rakwb eng Dashti, Sepide verfasserin aut Identification of a novel de novo mutation in the CTNNB1 gene in an Iranian patient with intellectual disability 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Fondazione Società Italiana di Neurologia 2022 Abstract CTNNB1 encodes for the β-catenin protein, a component of the cadherin adhesion complex, which regulates cell–cell adhesion and gene expression in the canonical Wnt signaling pathway. Mutations in CTNNB1 have been reported to be associated with cancer and mental disorders. Recently, loss-of-function mutations in CTNNB1 have been observed in patients with intellectual disability and some other clinical manifestations including motor and language delays, microcephaly, and mild visual defects. We report an 8-year-old Iranian girl with intellectual disability, hypotonia, impaired vision such as vitreomacular adhesion, motor delay, and speech delay. A novel, de novo nonsense mutation (c.1014G > A; p.Trp338Ter) in exon 7 of the CTNNB1 (NM_001904) gene was detected and confirmed by whole-exome sequencing and Sanger sequencing, respectively. This study helps to expand the growing list of loss-of-function mutations known in the CTNNB1 gene. gene (dpeaa)DE-He213 Intellectual disability (dpeaa)DE-He213 Hypotonia (dpeaa)DE-He213 Motor delay (dpeaa)DE-He213 Salehpour, Shadab (orcid)0000-0002-0277-809X aut Ghasemi, Mohammad-Reza (orcid)0000-0002-3183-5495 aut Sadeghi, Hossein (orcid)0000-0001-9599-6151 aut Rostami, Masoumeh aut Hashemi-Gorji, Farzad (orcid)0000-0002-9996-9406 aut Mirfakhraie, Reza (orcid)0000-0003-1709-8975 aut Yassaee, Vahid Reza (orcid)0000-0002-1879-3905 aut Miryounesi, Mohammad (orcid)0000-0003-4705-3794 aut Enthalten in Neurological sciences Milano : Springer, 2000 43(2022), 4 vom: 31. Jan., Seite 2859-2863 (DE-627)300187025 (DE-600)1481772-X 1590-3478 nnns volume:43 year:2022 number:4 day:31 month:01 pages:2859-2863 https://dx.doi.org/10.1007/s10072-022-05904-4 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 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_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 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_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 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_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 AR 43 2022 4 31 01 2859-2863
allfieldsSound	10.1007/s10072-022-05904-4 doi (DE-627)SPR046474234 (SPR)s10072-022-05904-4-e DE-627 ger DE-627 rakwb eng Dashti, Sepide verfasserin aut Identification of a novel de novo mutation in the CTNNB1 gene in an Iranian patient with intellectual disability 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Fondazione Società Italiana di Neurologia 2022 Abstract CTNNB1 encodes for the β-catenin protein, a component of the cadherin adhesion complex, which regulates cell–cell adhesion and gene expression in the canonical Wnt signaling pathway. Mutations in CTNNB1 have been reported to be associated with cancer and mental disorders. Recently, loss-of-function mutations in CTNNB1 have been observed in patients with intellectual disability and some other clinical manifestations including motor and language delays, microcephaly, and mild visual defects. We report an 8-year-old Iranian girl with intellectual disability, hypotonia, impaired vision such as vitreomacular adhesion, motor delay, and speech delay. A novel, de novo nonsense mutation (c.1014G > A; p.Trp338Ter) in exon 7 of the CTNNB1 (NM_001904) gene was detected and confirmed by whole-exome sequencing and Sanger sequencing, respectively. This study helps to expand the growing list of loss-of-function mutations known in the CTNNB1 gene. gene (dpeaa)DE-He213 Intellectual disability (dpeaa)DE-He213 Hypotonia (dpeaa)DE-He213 Motor delay (dpeaa)DE-He213 Salehpour, Shadab (orcid)0000-0002-0277-809X aut Ghasemi, Mohammad-Reza (orcid)0000-0002-3183-5495 aut Sadeghi, Hossein (orcid)0000-0001-9599-6151 aut Rostami, Masoumeh aut Hashemi-Gorji, Farzad (orcid)0000-0002-9996-9406 aut Mirfakhraie, Reza (orcid)0000-0003-1709-8975 aut Yassaee, Vahid Reza (orcid)0000-0002-1879-3905 aut Miryounesi, Mohammad (orcid)0000-0003-4705-3794 aut Enthalten in Neurological sciences Milano : Springer, 2000 43(2022), 4 vom: 31. Jan., Seite 2859-2863 (DE-627)300187025 (DE-600)1481772-X 1590-3478 nnns volume:43 year:2022 number:4 day:31 month:01 pages:2859-2863 https://dx.doi.org/10.1007/s10072-022-05904-4 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 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_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 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_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 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_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 AR 43 2022 4 31 01 2859-2863
language	English
source	Enthalten in Neurological sciences 43(2022), 4 vom: 31. Jan., Seite 2859-2863 volume:43 year:2022 number:4 day:31 month:01 pages:2859-2863
sourceStr	Enthalten in Neurological sciences 43(2022), 4 vom: 31. Jan., Seite 2859-2863 volume:43 year:2022 number:4 day:31 month:01 pages:2859-2863
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	gene Intellectual disability Hypotonia Motor delay
isfreeaccess_bool	false
container_title	Neurological sciences
authorswithroles_txt_mv	Dashti, Sepide @@aut@@ Salehpour, Shadab @@aut@@ Ghasemi, Mohammad-Reza @@aut@@ Sadeghi, Hossein @@aut@@ Rostami, Masoumeh @@aut@@ Hashemi-Gorji, Farzad @@aut@@ Mirfakhraie, Reza @@aut@@ Yassaee, Vahid Reza @@aut@@ Miryounesi, Mohammad @@aut@@
publishDateDaySort_date	2022-01-31T00:00:00Z
hierarchy_top_id	300187025
id	SPR046474234
language_de	englisch
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author	Dashti, Sepide
spellingShingle	Dashti, Sepide misc gene misc Intellectual disability misc Hypotonia misc Motor delay Identification of a novel de novo mutation in the CTNNB1 gene in an Iranian patient with intellectual disability
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topic_title	Identification of a novel de novo mutation in the CTNNB1 gene in an Iranian patient with intellectual disability gene (dpeaa)DE-He213 Intellectual disability (dpeaa)DE-He213 Hypotonia (dpeaa)DE-He213 Motor delay (dpeaa)DE-He213
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title	Identification of a novel de novo mutation in the CTNNB1 gene in an Iranian patient with intellectual disability
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title_full	Identification of a novel de novo mutation in the CTNNB1 gene in an Iranian patient with intellectual disability
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author_browse	Dashti, Sepide Salehpour, Shadab Ghasemi, Mohammad-Reza Sadeghi, Hossein Rostami, Masoumeh Hashemi-Gorji, Farzad Mirfakhraie, Reza Yassaee, Vahid Reza Miryounesi, Mohammad
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title_sort	identification of a novel de novo mutation in the ctnnb1 gene in an iranian patient with intellectual disability
title_auth	Identification of a novel de novo mutation in the CTNNB1 gene in an Iranian patient with intellectual disability
abstract	Abstract CTNNB1 encodes for the β-catenin protein, a component of the cadherin adhesion complex, which regulates cell–cell adhesion and gene expression in the canonical Wnt signaling pathway. Mutations in CTNNB1 have been reported to be associated with cancer and mental disorders. Recently, loss-of-function mutations in CTNNB1 have been observed in patients with intellectual disability and some other clinical manifestations including motor and language delays, microcephaly, and mild visual defects. We report an 8-year-old Iranian girl with intellectual disability, hypotonia, impaired vision such as vitreomacular adhesion, motor delay, and speech delay. A novel, de novo nonsense mutation (c.1014G > A; p.Trp338Ter) in exon 7 of the CTNNB1 (NM_001904) gene was detected and confirmed by whole-exome sequencing and Sanger sequencing, respectively. This study helps to expand the growing list of loss-of-function mutations known in the CTNNB1 gene. © Fondazione Società Italiana di Neurologia 2022
abstractGer	Abstract CTNNB1 encodes for the β-catenin protein, a component of the cadherin adhesion complex, which regulates cell–cell adhesion and gene expression in the canonical Wnt signaling pathway. Mutations in CTNNB1 have been reported to be associated with cancer and mental disorders. Recently, loss-of-function mutations in CTNNB1 have been observed in patients with intellectual disability and some other clinical manifestations including motor and language delays, microcephaly, and mild visual defects. We report an 8-year-old Iranian girl with intellectual disability, hypotonia, impaired vision such as vitreomacular adhesion, motor delay, and speech delay. A novel, de novo nonsense mutation (c.1014G > A; p.Trp338Ter) in exon 7 of the CTNNB1 (NM_001904) gene was detected and confirmed by whole-exome sequencing and Sanger sequencing, respectively. This study helps to expand the growing list of loss-of-function mutations known in the CTNNB1 gene. © Fondazione Società Italiana di Neurologia 2022
abstract_unstemmed	Abstract CTNNB1 encodes for the β-catenin protein, a component of the cadherin adhesion complex, which regulates cell–cell adhesion and gene expression in the canonical Wnt signaling pathway. Mutations in CTNNB1 have been reported to be associated with cancer and mental disorders. Recently, loss-of-function mutations in CTNNB1 have been observed in patients with intellectual disability and some other clinical manifestations including motor and language delays, microcephaly, and mild visual defects. We report an 8-year-old Iranian girl with intellectual disability, hypotonia, impaired vision such as vitreomacular adhesion, motor delay, and speech delay. A novel, de novo nonsense mutation (c.1014G > A; p.Trp338Ter) in exon 7 of the CTNNB1 (NM_001904) gene was detected and confirmed by whole-exome sequencing and Sanger sequencing, respectively. This study helps to expand the growing list of loss-of-function mutations known in the CTNNB1 gene. © Fondazione Società Italiana di Neurologia 2022
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title_short	Identification of a novel de novo mutation in the CTNNB1 gene in an Iranian patient with intellectual disability
url	https://dx.doi.org/10.1007/s10072-022-05904-4
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author2	Salehpour, Shadab Ghasemi, Mohammad-Reza Sadeghi, Hossein Rostami, Masoumeh Hashemi-Gorji, Farzad Mirfakhraie, Reza Yassaee, Vahid Reza Miryounesi, Mohammad
author2Str	Salehpour, Shadab Ghasemi, Mohammad-Reza Sadeghi, Hossein Rostami, Masoumeh Hashemi-Gorji, Farzad Mirfakhraie, Reza Yassaee, Vahid Reza Miryounesi, Mohammad
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doi_str	10.1007/s10072-022-05904-4
up_date	2024-07-03T22:45:06.703Z
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Identification of a novel de novo mutation in the CTNNB1 gene in an Iranian patient with intellectual disability

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