Phenotypic features of 1q41q42 microdeletion including <ce:italic>WDR26</ce:italic> and <ce:italic>FBXO28</ce:italic> are clinically recognizable: The first case from Japan
1q41q42 microdeletion syndrome has been established in 2007. Since then, more than 17 patients have been reported so far. The reported deletions showed random breakpoints and deletion regions are aligned as roof tiles. Patients with 1q41q42 microdeletion syndrome show intellectual disability, seizur...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Yanagishita, Tomoe [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2019transfer abstract |
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| Schlagwörter: |
Smallest region of overlap (SRO) |
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| Umfang: |
4 |
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| Übergeordnetes Werk: |
Enthalten in: Hydrogen bonding interactions and supramolecular assemblies in 2-amino guanidinium 4-methyl benzene sulphonate crystal structure: Hirshfeld surfaces and computational calculations - Muthuraja, P. ELSEVIER, 2017transfer abstract, official journal of the Japanese Society of Child Neurology, Amsterdam [u.a.] |
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| Übergeordnetes Werk: |
volume:41 ; year:2019 ; number:5 ; pages:452-455 ; extent:4 |
| Links: |
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| DOI / URN: |
10.1016/j.braindev.2018.12.006 |
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| 245 | 1 | 0 | |a Phenotypic features of 1q41q42 microdeletion including <ce:italic>WDR26</ce:italic> and <ce:italic>FBXO28</ce:italic> are clinically recognizable: The first case from Japan |
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| 520 | |a 1q41q42 microdeletion syndrome has been established in 2007. Since then, more than 17 patients have been reported so far. The reported deletions showed random breakpoints and deletion regions are aligned as roof tiles. Patients with 1q41q42 microdeletion syndrome show intellectual disability, seizures, and distinctive features. Many genotype-phenotype correlation studies have been performed and some genes included in this region have been suggested as potential candidate genes. Recently, de novo variants in WDR26 and FBXO28 were identified in patients who showed consistent phenotypes with 1q41q42 microdeletion syndrome. Thus, both genes are now considered as the genes possibly responsible for 1q41q42 microdeletion syndrome. Here, the first case of a Japanese patient with a de novo 1q41q42 microdeletion is reported. Owing to the distinctive features, this syndrome would be clinically recognizable. | ||
| 520 | |a 1q41q42 microdeletion syndrome has been established in 2007. Since then, more than 17 patients have been reported so far. The reported deletions showed random breakpoints and deletion regions are aligned as roof tiles. Patients with 1q41q42 microdeletion syndrome show intellectual disability, seizures, and distinctive features. Many genotype-phenotype correlation studies have been performed and some genes included in this region have been suggested as potential candidate genes. Recently, de novo variants in WDR26 and FBXO28 were identified in patients who showed consistent phenotypes with 1q41q42 microdeletion syndrome. Thus, both genes are now considered as the genes possibly responsible for 1q41q42 microdeletion syndrome. Here, the first case of a Japanese patient with a de novo 1q41q42 microdeletion is reported. Owing to the distinctive features, this syndrome would be clinically recognizable. | ||
| 650 | 7 | |a Smallest region of overlap (SRO) |2 Elsevier | |
| 650 | 7 | |a Ataxic gait |2 Elsevier | |
| 650 | 7 | |a Chromosomal microarray testing |2 Elsevier | |
| 650 | 7 | |a Loss-of-function |2 Elsevier | |
| 700 | 1 | |a Yamamoto-Shimojima, Keiko |4 oth | |
| 700 | 1 | |a Nakano, Sayaka |4 oth | |
| 700 | 1 | |a Sasaki, Testuya |4 oth | |
| 700 | 1 | |a Shigematsu, Hideo |4 oth | |
| 700 | 1 | |a Imai, Katsumi |4 oth | |
| 700 | 1 | |a Yamamoto, Toshiyuki |4 oth | |
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10.1016/j.braindev.2018.12.006 doi GBV00000000000569.pica (DE-627)ELV046283560 (ELSEVIER)S0387-7604(18)30389-9 DE-627 ger DE-627 rakwb eng 540 VZ 35.21 bkl Yanagishita, Tomoe verfasserin aut Phenotypic features of 1q41q42 microdeletion including <ce:italic>WDR26</ce:italic> and <ce:italic>FBXO28</ce:italic> are clinically recognizable: The first case from Japan 2019transfer abstract 4 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier 1q41q42 microdeletion syndrome has been established in 2007. Since then, more than 17 patients have been reported so far. The reported deletions showed random breakpoints and deletion regions are aligned as roof tiles. Patients with 1q41q42 microdeletion syndrome show intellectual disability, seizures, and distinctive features. Many genotype-phenotype correlation studies have been performed and some genes included in this region have been suggested as potential candidate genes. Recently, de novo variants in WDR26 and FBXO28 were identified in patients who showed consistent phenotypes with 1q41q42 microdeletion syndrome. Thus, both genes are now considered as the genes possibly responsible for 1q41q42 microdeletion syndrome. Here, the first case of a Japanese patient with a de novo 1q41q42 microdeletion is reported. Owing to the distinctive features, this syndrome would be clinically recognizable. 1q41q42 microdeletion syndrome has been established in 2007. Since then, more than 17 patients have been reported so far. The reported deletions showed random breakpoints and deletion regions are aligned as roof tiles. Patients with 1q41q42 microdeletion syndrome show intellectual disability, seizures, and distinctive features. Many genotype-phenotype correlation studies have been performed and some genes included in this region have been suggested as potential candidate genes. Recently, de novo variants in WDR26 and FBXO28 were identified in patients who showed consistent phenotypes with 1q41q42 microdeletion syndrome. Thus, both genes are now considered as the genes possibly responsible for 1q41q42 microdeletion syndrome. Here, the first case of a Japanese patient with a de novo 1q41q42 microdeletion is reported. Owing to the distinctive features, this syndrome would be clinically recognizable. Smallest region of overlap (SRO) Elsevier Ataxic gait Elsevier Chromosomal microarray testing Elsevier Loss-of-function Elsevier Yamamoto-Shimojima, Keiko oth Nakano, Sayaka oth Sasaki, Testuya oth Shigematsu, Hideo oth Imai, Katsumi oth Yamamoto, Toshiyuki oth Enthalten in Elsevier Science Muthuraja, P. ELSEVIER Hydrogen bonding interactions and supramolecular assemblies in 2-amino guanidinium 4-methyl benzene sulphonate crystal structure: Hirshfeld surfaces and computational calculations 2017transfer abstract official journal of the Japanese Society of Child Neurology Amsterdam [u.a.] (DE-627)ELV015554368 volume:41 year:2019 number:5 pages:452-455 extent:4 https://doi.org/10.1016/j.braindev.2018.12.006 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 35.21 Lösungen Flüssigkeiten Physikalische Chemie VZ AR 41 2019 5 452-455 4 |
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10.1016/j.braindev.2018.12.006 doi GBV00000000000569.pica (DE-627)ELV046283560 (ELSEVIER)S0387-7604(18)30389-9 DE-627 ger DE-627 rakwb eng 540 VZ 35.21 bkl Yanagishita, Tomoe verfasserin aut Phenotypic features of 1q41q42 microdeletion including <ce:italic>WDR26</ce:italic> and <ce:italic>FBXO28</ce:italic> are clinically recognizable: The first case from Japan 2019transfer abstract 4 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier 1q41q42 microdeletion syndrome has been established in 2007. Since then, more than 17 patients have been reported so far. The reported deletions showed random breakpoints and deletion regions are aligned as roof tiles. Patients with 1q41q42 microdeletion syndrome show intellectual disability, seizures, and distinctive features. Many genotype-phenotype correlation studies have been performed and some genes included in this region have been suggested as potential candidate genes. Recently, de novo variants in WDR26 and FBXO28 were identified in patients who showed consistent phenotypes with 1q41q42 microdeletion syndrome. Thus, both genes are now considered as the genes possibly responsible for 1q41q42 microdeletion syndrome. Here, the first case of a Japanese patient with a de novo 1q41q42 microdeletion is reported. Owing to the distinctive features, this syndrome would be clinically recognizable. 1q41q42 microdeletion syndrome has been established in 2007. Since then, more than 17 patients have been reported so far. The reported deletions showed random breakpoints and deletion regions are aligned as roof tiles. Patients with 1q41q42 microdeletion syndrome show intellectual disability, seizures, and distinctive features. Many genotype-phenotype correlation studies have been performed and some genes included in this region have been suggested as potential candidate genes. Recently, de novo variants in WDR26 and FBXO28 were identified in patients who showed consistent phenotypes with 1q41q42 microdeletion syndrome. Thus, both genes are now considered as the genes possibly responsible for 1q41q42 microdeletion syndrome. Here, the first case of a Japanese patient with a de novo 1q41q42 microdeletion is reported. Owing to the distinctive features, this syndrome would be clinically recognizable. Smallest region of overlap (SRO) Elsevier Ataxic gait Elsevier Chromosomal microarray testing Elsevier Loss-of-function Elsevier Yamamoto-Shimojima, Keiko oth Nakano, Sayaka oth Sasaki, Testuya oth Shigematsu, Hideo oth Imai, Katsumi oth Yamamoto, Toshiyuki oth Enthalten in Elsevier Science Muthuraja, P. ELSEVIER Hydrogen bonding interactions and supramolecular assemblies in 2-amino guanidinium 4-methyl benzene sulphonate crystal structure: Hirshfeld surfaces and computational calculations 2017transfer abstract official journal of the Japanese Society of Child Neurology Amsterdam [u.a.] (DE-627)ELV015554368 volume:41 year:2019 number:5 pages:452-455 extent:4 https://doi.org/10.1016/j.braindev.2018.12.006 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 35.21 Lösungen Flüssigkeiten Physikalische Chemie VZ AR 41 2019 5 452-455 4 |
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10.1016/j.braindev.2018.12.006 doi GBV00000000000569.pica (DE-627)ELV046283560 (ELSEVIER)S0387-7604(18)30389-9 DE-627 ger DE-627 rakwb eng 540 VZ 35.21 bkl Yanagishita, Tomoe verfasserin aut Phenotypic features of 1q41q42 microdeletion including <ce:italic>WDR26</ce:italic> and <ce:italic>FBXO28</ce:italic> are clinically recognizable: The first case from Japan 2019transfer abstract 4 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier 1q41q42 microdeletion syndrome has been established in 2007. Since then, more than 17 patients have been reported so far. The reported deletions showed random breakpoints and deletion regions are aligned as roof tiles. Patients with 1q41q42 microdeletion syndrome show intellectual disability, seizures, and distinctive features. Many genotype-phenotype correlation studies have been performed and some genes included in this region have been suggested as potential candidate genes. Recently, de novo variants in WDR26 and FBXO28 were identified in patients who showed consistent phenotypes with 1q41q42 microdeletion syndrome. Thus, both genes are now considered as the genes possibly responsible for 1q41q42 microdeletion syndrome. Here, the first case of a Japanese patient with a de novo 1q41q42 microdeletion is reported. Owing to the distinctive features, this syndrome would be clinically recognizable. 1q41q42 microdeletion syndrome has been established in 2007. Since then, more than 17 patients have been reported so far. The reported deletions showed random breakpoints and deletion regions are aligned as roof tiles. Patients with 1q41q42 microdeletion syndrome show intellectual disability, seizures, and distinctive features. Many genotype-phenotype correlation studies have been performed and some genes included in this region have been suggested as potential candidate genes. Recently, de novo variants in WDR26 and FBXO28 were identified in patients who showed consistent phenotypes with 1q41q42 microdeletion syndrome. Thus, both genes are now considered as the genes possibly responsible for 1q41q42 microdeletion syndrome. Here, the first case of a Japanese patient with a de novo 1q41q42 microdeletion is reported. Owing to the distinctive features, this syndrome would be clinically recognizable. Smallest region of overlap (SRO) Elsevier Ataxic gait Elsevier Chromosomal microarray testing Elsevier Loss-of-function Elsevier Yamamoto-Shimojima, Keiko oth Nakano, Sayaka oth Sasaki, Testuya oth Shigematsu, Hideo oth Imai, Katsumi oth Yamamoto, Toshiyuki oth Enthalten in Elsevier Science Muthuraja, P. ELSEVIER Hydrogen bonding interactions and supramolecular assemblies in 2-amino guanidinium 4-methyl benzene sulphonate crystal structure: Hirshfeld surfaces and computational calculations 2017transfer abstract official journal of the Japanese Society of Child Neurology Amsterdam [u.a.] (DE-627)ELV015554368 volume:41 year:2019 number:5 pages:452-455 extent:4 https://doi.org/10.1016/j.braindev.2018.12.006 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 35.21 Lösungen Flüssigkeiten Physikalische Chemie VZ AR 41 2019 5 452-455 4 |
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10.1016/j.braindev.2018.12.006 doi GBV00000000000569.pica (DE-627)ELV046283560 (ELSEVIER)S0387-7604(18)30389-9 DE-627 ger DE-627 rakwb eng 540 VZ 35.21 bkl Yanagishita, Tomoe verfasserin aut Phenotypic features of 1q41q42 microdeletion including <ce:italic>WDR26</ce:italic> and <ce:italic>FBXO28</ce:italic> are clinically recognizable: The first case from Japan 2019transfer abstract 4 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier 1q41q42 microdeletion syndrome has been established in 2007. Since then, more than 17 patients have been reported so far. The reported deletions showed random breakpoints and deletion regions are aligned as roof tiles. Patients with 1q41q42 microdeletion syndrome show intellectual disability, seizures, and distinctive features. Many genotype-phenotype correlation studies have been performed and some genes included in this region have been suggested as potential candidate genes. Recently, de novo variants in WDR26 and FBXO28 were identified in patients who showed consistent phenotypes with 1q41q42 microdeletion syndrome. Thus, both genes are now considered as the genes possibly responsible for 1q41q42 microdeletion syndrome. Here, the first case of a Japanese patient with a de novo 1q41q42 microdeletion is reported. Owing to the distinctive features, this syndrome would be clinically recognizable. 1q41q42 microdeletion syndrome has been established in 2007. Since then, more than 17 patients have been reported so far. The reported deletions showed random breakpoints and deletion regions are aligned as roof tiles. Patients with 1q41q42 microdeletion syndrome show intellectual disability, seizures, and distinctive features. Many genotype-phenotype correlation studies have been performed and some genes included in this region have been suggested as potential candidate genes. Recently, de novo variants in WDR26 and FBXO28 were identified in patients who showed consistent phenotypes with 1q41q42 microdeletion syndrome. Thus, both genes are now considered as the genes possibly responsible for 1q41q42 microdeletion syndrome. Here, the first case of a Japanese patient with a de novo 1q41q42 microdeletion is reported. Owing to the distinctive features, this syndrome would be clinically recognizable. Smallest region of overlap (SRO) Elsevier Ataxic gait Elsevier Chromosomal microarray testing Elsevier Loss-of-function Elsevier Yamamoto-Shimojima, Keiko oth Nakano, Sayaka oth Sasaki, Testuya oth Shigematsu, Hideo oth Imai, Katsumi oth Yamamoto, Toshiyuki oth Enthalten in Elsevier Science Muthuraja, P. ELSEVIER Hydrogen bonding interactions and supramolecular assemblies in 2-amino guanidinium 4-methyl benzene sulphonate crystal structure: Hirshfeld surfaces and computational calculations 2017transfer abstract official journal of the Japanese Society of Child Neurology Amsterdam [u.a.] (DE-627)ELV015554368 volume:41 year:2019 number:5 pages:452-455 extent:4 https://doi.org/10.1016/j.braindev.2018.12.006 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 35.21 Lösungen Flüssigkeiten Physikalische Chemie VZ AR 41 2019 5 452-455 4 |
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10.1016/j.braindev.2018.12.006 doi GBV00000000000569.pica (DE-627)ELV046283560 (ELSEVIER)S0387-7604(18)30389-9 DE-627 ger DE-627 rakwb eng 540 VZ 35.21 bkl Yanagishita, Tomoe verfasserin aut Phenotypic features of 1q41q42 microdeletion including <ce:italic>WDR26</ce:italic> and <ce:italic>FBXO28</ce:italic> are clinically recognizable: The first case from Japan 2019transfer abstract 4 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier 1q41q42 microdeletion syndrome has been established in 2007. Since then, more than 17 patients have been reported so far. The reported deletions showed random breakpoints and deletion regions are aligned as roof tiles. Patients with 1q41q42 microdeletion syndrome show intellectual disability, seizures, and distinctive features. Many genotype-phenotype correlation studies have been performed and some genes included in this region have been suggested as potential candidate genes. Recently, de novo variants in WDR26 and FBXO28 were identified in patients who showed consistent phenotypes with 1q41q42 microdeletion syndrome. Thus, both genes are now considered as the genes possibly responsible for 1q41q42 microdeletion syndrome. Here, the first case of a Japanese patient with a de novo 1q41q42 microdeletion is reported. Owing to the distinctive features, this syndrome would be clinically recognizable. 1q41q42 microdeletion syndrome has been established in 2007. Since then, more than 17 patients have been reported so far. The reported deletions showed random breakpoints and deletion regions are aligned as roof tiles. Patients with 1q41q42 microdeletion syndrome show intellectual disability, seizures, and distinctive features. Many genotype-phenotype correlation studies have been performed and some genes included in this region have been suggested as potential candidate genes. Recently, de novo variants in WDR26 and FBXO28 were identified in patients who showed consistent phenotypes with 1q41q42 microdeletion syndrome. Thus, both genes are now considered as the genes possibly responsible for 1q41q42 microdeletion syndrome. Here, the first case of a Japanese patient with a de novo 1q41q42 microdeletion is reported. Owing to the distinctive features, this syndrome would be clinically recognizable. Smallest region of overlap (SRO) Elsevier Ataxic gait Elsevier Chromosomal microarray testing Elsevier Loss-of-function Elsevier Yamamoto-Shimojima, Keiko oth Nakano, Sayaka oth Sasaki, Testuya oth Shigematsu, Hideo oth Imai, Katsumi oth Yamamoto, Toshiyuki oth Enthalten in Elsevier Science Muthuraja, P. ELSEVIER Hydrogen bonding interactions and supramolecular assemblies in 2-amino guanidinium 4-methyl benzene sulphonate crystal structure: Hirshfeld surfaces and computational calculations 2017transfer abstract official journal of the Japanese Society of Child Neurology Amsterdam [u.a.] (DE-627)ELV015554368 volume:41 year:2019 number:5 pages:452-455 extent:4 https://doi.org/10.1016/j.braindev.2018.12.006 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 35.21 Lösungen Flüssigkeiten Physikalische Chemie VZ AR 41 2019 5 452-455 4 |
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English |
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Enthalten in Hydrogen bonding interactions and supramolecular assemblies in 2-amino guanidinium 4-methyl benzene sulphonate crystal structure: Hirshfeld surfaces and computational calculations Amsterdam [u.a.] volume:41 year:2019 number:5 pages:452-455 extent:4 |
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Enthalten in Hydrogen bonding interactions and supramolecular assemblies in 2-amino guanidinium 4-methyl benzene sulphonate crystal structure: Hirshfeld surfaces and computational calculations Amsterdam [u.a.] volume:41 year:2019 number:5 pages:452-455 extent:4 |
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Hydrogen bonding interactions and supramolecular assemblies in 2-amino guanidinium 4-methyl benzene sulphonate crystal structure: Hirshfeld surfaces and computational calculations |
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phenotypic features of 1q41q42 microdeletion including <ce:italic>wdr26</ce:italic> and <ce:italic>fbxo28</ce:italic> are clinically recognizable: the first case from japan |
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Phenotypic features of 1q41q42 microdeletion including <ce:italic>WDR26</ce:italic> and <ce:italic>FBXO28</ce:italic> are clinically recognizable: The first case from Japan |
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1q41q42 microdeletion syndrome has been established in 2007. Since then, more than 17 patients have been reported so far. The reported deletions showed random breakpoints and deletion regions are aligned as roof tiles. Patients with 1q41q42 microdeletion syndrome show intellectual disability, seizures, and distinctive features. Many genotype-phenotype correlation studies have been performed and some genes included in this region have been suggested as potential candidate genes. Recently, de novo variants in WDR26 and FBXO28 were identified in patients who showed consistent phenotypes with 1q41q42 microdeletion syndrome. Thus, both genes are now considered as the genes possibly responsible for 1q41q42 microdeletion syndrome. Here, the first case of a Japanese patient with a de novo 1q41q42 microdeletion is reported. Owing to the distinctive features, this syndrome would be clinically recognizable. |
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1q41q42 microdeletion syndrome has been established in 2007. Since then, more than 17 patients have been reported so far. The reported deletions showed random breakpoints and deletion regions are aligned as roof tiles. Patients with 1q41q42 microdeletion syndrome show intellectual disability, seizures, and distinctive features. Many genotype-phenotype correlation studies have been performed and some genes included in this region have been suggested as potential candidate genes. Recently, de novo variants in WDR26 and FBXO28 were identified in patients who showed consistent phenotypes with 1q41q42 microdeletion syndrome. Thus, both genes are now considered as the genes possibly responsible for 1q41q42 microdeletion syndrome. Here, the first case of a Japanese patient with a de novo 1q41q42 microdeletion is reported. Owing to the distinctive features, this syndrome would be clinically recognizable. |
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1q41q42 microdeletion syndrome has been established in 2007. Since then, more than 17 patients have been reported so far. The reported deletions showed random breakpoints and deletion regions are aligned as roof tiles. Patients with 1q41q42 microdeletion syndrome show intellectual disability, seizures, and distinctive features. Many genotype-phenotype correlation studies have been performed and some genes included in this region have been suggested as potential candidate genes. Recently, de novo variants in WDR26 and FBXO28 were identified in patients who showed consistent phenotypes with 1q41q42 microdeletion syndrome. Thus, both genes are now considered as the genes possibly responsible for 1q41q42 microdeletion syndrome. Here, the first case of a Japanese patient with a de novo 1q41q42 microdeletion is reported. Owing to the distinctive features, this syndrome would be clinically recognizable. |
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Phenotypic features of 1q41q42 microdeletion including <ce:italic>WDR26</ce:italic> and <ce:italic>FBXO28</ce:italic> are clinically recognizable: The first case from Japan |
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