Patients with biallelic GGC repeat expansions in NOTCH2NLC exhibiting a typical neuronal intranuclear inclusion disease phenotype
We report two patients with autosomal dominant neuronal intranuclear inclusion disease (NIID) harboring the biallelic GGC repeat expansion in NOTCH2NLC to uncover the impact of repeat expansion zygosity on the clinical phenotype. The zygosity of the entire NOTCH2NLC GGC repeat expansion and DNA meth...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Kameyama, Shinichi [verfasserIn] |
|---|
| Format: |
E-Artikel |
|---|---|
| Sprache: |
Englisch |
| Erschienen: |
2022transfer abstract |
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| Übergeordnetes Werk: |
Enthalten in: Flood hazard assessment and heavy metal distributions around Um Gheig mine area, Eastern Desert, Egypt - Redwan, Mostafa ELSEVIER, 2017transfer abstract, an international journal for analysis of the human and other genomes, San Diego, Calif |
|---|---|
| Übergeordnetes Werk: |
volume:114 ; year:2022 ; number:5 ; pages:0 |
| Links: |
|---|
| DOI / URN: |
10.1016/j.ygeno.2022.110469 |
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ELV058968814 |
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| 245 | 1 | 0 | |a Patients with biallelic GGC repeat expansions in NOTCH2NLC exhibiting a typical neuronal intranuclear inclusion disease phenotype |
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| 520 | |a We report two patients with autosomal dominant neuronal intranuclear inclusion disease (NIID) harboring the biallelic GGC repeat expansion in NOTCH2NLC to uncover the impact of repeat expansion zygosity on the clinical phenotype. The zygosity of the entire NOTCH2NLC GGC repeat expansion and DNA methylation were comprehensively evaluated using fluorescent amplicon length PCR (AL-PCR), Southern blotting and targeted long-read sequencing, and detailed genetic/epigenetic and clinical features were described. In AL-PCR, we could not recognize the wild-type allele in both patients. Targeted long-read sequencing revealed that one patient harbored a homozygous repeat expansion. The other patient harbored compound heterozygous repeat expansions. The GGC repeats and the nearest CpG island were hypomethylated in all expanded alleles in both patients. Both patients harboring the biallelic GGC repeat expansion showed a typical dementia-dominant NIID phenotype. In conclusion, the biallelic GGC repeat expansion in two typical NIID patients indicated that NOTCH2NLC-related diseases could be completely dominant. | ||
| 520 | |a We report two patients with autosomal dominant neuronal intranuclear inclusion disease (NIID) harboring the biallelic GGC repeat expansion in NOTCH2NLC to uncover the impact of repeat expansion zygosity on the clinical phenotype. The zygosity of the entire NOTCH2NLC GGC repeat expansion and DNA methylation were comprehensively evaluated using fluorescent amplicon length PCR (AL-PCR), Southern blotting and targeted long-read sequencing, and detailed genetic/epigenetic and clinical features were described. In AL-PCR, we could not recognize the wild-type allele in both patients. Targeted long-read sequencing revealed that one patient harbored a homozygous repeat expansion. The other patient harbored compound heterozygous repeat expansions. The GGC repeats and the nearest CpG island were hypomethylated in all expanded alleles in both patients. Both patients harboring the biallelic GGC repeat expansion showed a typical dementia-dominant NIID phenotype. In conclusion, the biallelic GGC repeat expansion in two typical NIID patients indicated that NOTCH2NLC-related diseases could be completely dominant. | ||
| 700 | 1 | |a Mizuguchi, Takeshi |4 oth | |
| 700 | 1 | |a Doi, Hiroshi |4 oth | |
| 700 | 1 | |a Koyano, Shigeru |4 oth | |
| 700 | 1 | |a Okubo, Masaki |4 oth | |
| 700 | 1 | |a Tada, Mikiko |4 oth | |
| 700 | 1 | |a Shimizu, Hiroshi |4 oth | |
| 700 | 1 | |a Fukuda, Hiromi |4 oth | |
| 700 | 1 | |a Tsuchida, Naomi |4 oth | |
| 700 | 1 | |a Uchiyama, Yuri |4 oth | |
| 700 | 1 | |a Koshimizu, Eriko |4 oth | |
| 700 | 1 | |a Hamanaka, Kohei |4 oth | |
| 700 | 1 | |a Fujita, Atsushi |4 oth | |
| 700 | 1 | |a Misawa, Kazuharu |4 oth | |
| 700 | 1 | |a Miyatake, Satoko |4 oth | |
| 700 | 1 | |a Kanai, Kazuaki |4 oth | |
| 700 | 1 | |a Tanaka, Fumiaki |4 oth | |
| 700 | 1 | |a Matsumoto, Naomichi |4 oth | |
| 773 | 0 | 8 | |i Enthalten in |n Academic Press |a Redwan, Mostafa ELSEVIER |t Flood hazard assessment and heavy metal distributions around Um Gheig mine area, Eastern Desert, Egypt |d 2017transfer abstract |d an international journal for analysis of the human and other genomes |g San Diego, Calif |w (DE-627)ELV020260245 |
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10.1016/j.ygeno.2022.110469 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001905.pica (DE-627)ELV058968814 (ELSEVIER)S0888-7543(22)00214-2 DE-627 ger DE-627 rakwb eng 550 VZ 620 VZ 55.50 bkl 55.60 bkl 55.60 bkl Kameyama, Shinichi verfasserin aut Patients with biallelic GGC repeat expansions in NOTCH2NLC exhibiting a typical neuronal intranuclear inclusion disease phenotype 2022transfer abstract nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier We report two patients with autosomal dominant neuronal intranuclear inclusion disease (NIID) harboring the biallelic GGC repeat expansion in NOTCH2NLC to uncover the impact of repeat expansion zygosity on the clinical phenotype. The zygosity of the entire NOTCH2NLC GGC repeat expansion and DNA methylation were comprehensively evaluated using fluorescent amplicon length PCR (AL-PCR), Southern blotting and targeted long-read sequencing, and detailed genetic/epigenetic and clinical features were described. In AL-PCR, we could not recognize the wild-type allele in both patients. Targeted long-read sequencing revealed that one patient harbored a homozygous repeat expansion. The other patient harbored compound heterozygous repeat expansions. The GGC repeats and the nearest CpG island were hypomethylated in all expanded alleles in both patients. Both patients harboring the biallelic GGC repeat expansion showed a typical dementia-dominant NIID phenotype. In conclusion, the biallelic GGC repeat expansion in two typical NIID patients indicated that NOTCH2NLC-related diseases could be completely dominant. We report two patients with autosomal dominant neuronal intranuclear inclusion disease (NIID) harboring the biallelic GGC repeat expansion in NOTCH2NLC to uncover the impact of repeat expansion zygosity on the clinical phenotype. The zygosity of the entire NOTCH2NLC GGC repeat expansion and DNA methylation were comprehensively evaluated using fluorescent amplicon length PCR (AL-PCR), Southern blotting and targeted long-read sequencing, and detailed genetic/epigenetic and clinical features were described. In AL-PCR, we could not recognize the wild-type allele in both patients. Targeted long-read sequencing revealed that one patient harbored a homozygous repeat expansion. The other patient harbored compound heterozygous repeat expansions. The GGC repeats and the nearest CpG island were hypomethylated in all expanded alleles in both patients. Both patients harboring the biallelic GGC repeat expansion showed a typical dementia-dominant NIID phenotype. In conclusion, the biallelic GGC repeat expansion in two typical NIID patients indicated that NOTCH2NLC-related diseases could be completely dominant. Mizuguchi, Takeshi oth Doi, Hiroshi oth Koyano, Shigeru oth Okubo, Masaki oth Tada, Mikiko oth Shimizu, Hiroshi oth Fukuda, Hiromi oth Tsuchida, Naomi oth Uchiyama, Yuri oth Koshimizu, Eriko oth Hamanaka, Kohei oth Fujita, Atsushi oth Misawa, Kazuharu oth Miyatake, Satoko oth Kanai, Kazuaki oth Tanaka, Fumiaki oth Matsumoto, Naomichi oth Enthalten in Academic Press Redwan, Mostafa ELSEVIER Flood hazard assessment and heavy metal distributions around Um Gheig mine area, Eastern Desert, Egypt 2017transfer abstract an international journal for analysis of the human and other genomes San Diego, Calif (DE-627)ELV020260245 volume:114 year:2022 number:5 pages:0 https://doi.org/10.1016/j.ygeno.2022.110469 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OPC-AST 55.50 Luftfahrzeugtechnik VZ 55.60 Raumfahrttechnik VZ 55.60 Raumfahrttechnik VZ AR 114 2022 5 0 |
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10.1016/j.ygeno.2022.110469 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001905.pica (DE-627)ELV058968814 (ELSEVIER)S0888-7543(22)00214-2 DE-627 ger DE-627 rakwb eng 550 VZ 620 VZ 55.50 bkl 55.60 bkl 55.60 bkl Kameyama, Shinichi verfasserin aut Patients with biallelic GGC repeat expansions in NOTCH2NLC exhibiting a typical neuronal intranuclear inclusion disease phenotype 2022transfer abstract nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier We report two patients with autosomal dominant neuronal intranuclear inclusion disease (NIID) harboring the biallelic GGC repeat expansion in NOTCH2NLC to uncover the impact of repeat expansion zygosity on the clinical phenotype. The zygosity of the entire NOTCH2NLC GGC repeat expansion and DNA methylation were comprehensively evaluated using fluorescent amplicon length PCR (AL-PCR), Southern blotting and targeted long-read sequencing, and detailed genetic/epigenetic and clinical features were described. In AL-PCR, we could not recognize the wild-type allele in both patients. Targeted long-read sequencing revealed that one patient harbored a homozygous repeat expansion. The other patient harbored compound heterozygous repeat expansions. The GGC repeats and the nearest CpG island were hypomethylated in all expanded alleles in both patients. Both patients harboring the biallelic GGC repeat expansion showed a typical dementia-dominant NIID phenotype. In conclusion, the biallelic GGC repeat expansion in two typical NIID patients indicated that NOTCH2NLC-related diseases could be completely dominant. We report two patients with autosomal dominant neuronal intranuclear inclusion disease (NIID) harboring the biallelic GGC repeat expansion in NOTCH2NLC to uncover the impact of repeat expansion zygosity on the clinical phenotype. The zygosity of the entire NOTCH2NLC GGC repeat expansion and DNA methylation were comprehensively evaluated using fluorescent amplicon length PCR (AL-PCR), Southern blotting and targeted long-read sequencing, and detailed genetic/epigenetic and clinical features were described. In AL-PCR, we could not recognize the wild-type allele in both patients. Targeted long-read sequencing revealed that one patient harbored a homozygous repeat expansion. The other patient harbored compound heterozygous repeat expansions. The GGC repeats and the nearest CpG island were hypomethylated in all expanded alleles in both patients. Both patients harboring the biallelic GGC repeat expansion showed a typical dementia-dominant NIID phenotype. In conclusion, the biallelic GGC repeat expansion in two typical NIID patients indicated that NOTCH2NLC-related diseases could be completely dominant. Mizuguchi, Takeshi oth Doi, Hiroshi oth Koyano, Shigeru oth Okubo, Masaki oth Tada, Mikiko oth Shimizu, Hiroshi oth Fukuda, Hiromi oth Tsuchida, Naomi oth Uchiyama, Yuri oth Koshimizu, Eriko oth Hamanaka, Kohei oth Fujita, Atsushi oth Misawa, Kazuharu oth Miyatake, Satoko oth Kanai, Kazuaki oth Tanaka, Fumiaki oth Matsumoto, Naomichi oth Enthalten in Academic Press Redwan, Mostafa ELSEVIER Flood hazard assessment and heavy metal distributions around Um Gheig mine area, Eastern Desert, Egypt 2017transfer abstract an international journal for analysis of the human and other genomes San Diego, Calif (DE-627)ELV020260245 volume:114 year:2022 number:5 pages:0 https://doi.org/10.1016/j.ygeno.2022.110469 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OPC-AST 55.50 Luftfahrzeugtechnik VZ 55.60 Raumfahrttechnik VZ 55.60 Raumfahrttechnik VZ AR 114 2022 5 0 |
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10.1016/j.ygeno.2022.110469 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001905.pica (DE-627)ELV058968814 (ELSEVIER)S0888-7543(22)00214-2 DE-627 ger DE-627 rakwb eng 550 VZ 620 VZ 55.50 bkl 55.60 bkl 55.60 bkl Kameyama, Shinichi verfasserin aut Patients with biallelic GGC repeat expansions in NOTCH2NLC exhibiting a typical neuronal intranuclear inclusion disease phenotype 2022transfer abstract nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier We report two patients with autosomal dominant neuronal intranuclear inclusion disease (NIID) harboring the biallelic GGC repeat expansion in NOTCH2NLC to uncover the impact of repeat expansion zygosity on the clinical phenotype. The zygosity of the entire NOTCH2NLC GGC repeat expansion and DNA methylation were comprehensively evaluated using fluorescent amplicon length PCR (AL-PCR), Southern blotting and targeted long-read sequencing, and detailed genetic/epigenetic and clinical features were described. In AL-PCR, we could not recognize the wild-type allele in both patients. Targeted long-read sequencing revealed that one patient harbored a homozygous repeat expansion. The other patient harbored compound heterozygous repeat expansions. The GGC repeats and the nearest CpG island were hypomethylated in all expanded alleles in both patients. Both patients harboring the biallelic GGC repeat expansion showed a typical dementia-dominant NIID phenotype. In conclusion, the biallelic GGC repeat expansion in two typical NIID patients indicated that NOTCH2NLC-related diseases could be completely dominant. We report two patients with autosomal dominant neuronal intranuclear inclusion disease (NIID) harboring the biallelic GGC repeat expansion in NOTCH2NLC to uncover the impact of repeat expansion zygosity on the clinical phenotype. The zygosity of the entire NOTCH2NLC GGC repeat expansion and DNA methylation were comprehensively evaluated using fluorescent amplicon length PCR (AL-PCR), Southern blotting and targeted long-read sequencing, and detailed genetic/epigenetic and clinical features were described. In AL-PCR, we could not recognize the wild-type allele in both patients. Targeted long-read sequencing revealed that one patient harbored a homozygous repeat expansion. The other patient harbored compound heterozygous repeat expansions. The GGC repeats and the nearest CpG island were hypomethylated in all expanded alleles in both patients. Both patients harboring the biallelic GGC repeat expansion showed a typical dementia-dominant NIID phenotype. In conclusion, the biallelic GGC repeat expansion in two typical NIID patients indicated that NOTCH2NLC-related diseases could be completely dominant. Mizuguchi, Takeshi oth Doi, Hiroshi oth Koyano, Shigeru oth Okubo, Masaki oth Tada, Mikiko oth Shimizu, Hiroshi oth Fukuda, Hiromi oth Tsuchida, Naomi oth Uchiyama, Yuri oth Koshimizu, Eriko oth Hamanaka, Kohei oth Fujita, Atsushi oth Misawa, Kazuharu oth Miyatake, Satoko oth Kanai, Kazuaki oth Tanaka, Fumiaki oth Matsumoto, Naomichi oth Enthalten in Academic Press Redwan, Mostafa ELSEVIER Flood hazard assessment and heavy metal distributions around Um Gheig mine area, Eastern Desert, Egypt 2017transfer abstract an international journal for analysis of the human and other genomes San Diego, Calif (DE-627)ELV020260245 volume:114 year:2022 number:5 pages:0 https://doi.org/10.1016/j.ygeno.2022.110469 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OPC-AST 55.50 Luftfahrzeugtechnik VZ 55.60 Raumfahrttechnik VZ 55.60 Raumfahrttechnik VZ AR 114 2022 5 0 |
| allfieldsGer |
10.1016/j.ygeno.2022.110469 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001905.pica (DE-627)ELV058968814 (ELSEVIER)S0888-7543(22)00214-2 DE-627 ger DE-627 rakwb eng 550 VZ 620 VZ 55.50 bkl 55.60 bkl 55.60 bkl Kameyama, Shinichi verfasserin aut Patients with biallelic GGC repeat expansions in NOTCH2NLC exhibiting a typical neuronal intranuclear inclusion disease phenotype 2022transfer abstract nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier We report two patients with autosomal dominant neuronal intranuclear inclusion disease (NIID) harboring the biallelic GGC repeat expansion in NOTCH2NLC to uncover the impact of repeat expansion zygosity on the clinical phenotype. The zygosity of the entire NOTCH2NLC GGC repeat expansion and DNA methylation were comprehensively evaluated using fluorescent amplicon length PCR (AL-PCR), Southern blotting and targeted long-read sequencing, and detailed genetic/epigenetic and clinical features were described. In AL-PCR, we could not recognize the wild-type allele in both patients. Targeted long-read sequencing revealed that one patient harbored a homozygous repeat expansion. The other patient harbored compound heterozygous repeat expansions. The GGC repeats and the nearest CpG island were hypomethylated in all expanded alleles in both patients. Both patients harboring the biallelic GGC repeat expansion showed a typical dementia-dominant NIID phenotype. In conclusion, the biallelic GGC repeat expansion in two typical NIID patients indicated that NOTCH2NLC-related diseases could be completely dominant. We report two patients with autosomal dominant neuronal intranuclear inclusion disease (NIID) harboring the biallelic GGC repeat expansion in NOTCH2NLC to uncover the impact of repeat expansion zygosity on the clinical phenotype. The zygosity of the entire NOTCH2NLC GGC repeat expansion and DNA methylation were comprehensively evaluated using fluorescent amplicon length PCR (AL-PCR), Southern blotting and targeted long-read sequencing, and detailed genetic/epigenetic and clinical features were described. In AL-PCR, we could not recognize the wild-type allele in both patients. Targeted long-read sequencing revealed that one patient harbored a homozygous repeat expansion. The other patient harbored compound heterozygous repeat expansions. The GGC repeats and the nearest CpG island were hypomethylated in all expanded alleles in both patients. Both patients harboring the biallelic GGC repeat expansion showed a typical dementia-dominant NIID phenotype. In conclusion, the biallelic GGC repeat expansion in two typical NIID patients indicated that NOTCH2NLC-related diseases could be completely dominant. Mizuguchi, Takeshi oth Doi, Hiroshi oth Koyano, Shigeru oth Okubo, Masaki oth Tada, Mikiko oth Shimizu, Hiroshi oth Fukuda, Hiromi oth Tsuchida, Naomi oth Uchiyama, Yuri oth Koshimizu, Eriko oth Hamanaka, Kohei oth Fujita, Atsushi oth Misawa, Kazuharu oth Miyatake, Satoko oth Kanai, Kazuaki oth Tanaka, Fumiaki oth Matsumoto, Naomichi oth Enthalten in Academic Press Redwan, Mostafa ELSEVIER Flood hazard assessment and heavy metal distributions around Um Gheig mine area, Eastern Desert, Egypt 2017transfer abstract an international journal for analysis of the human and other genomes San Diego, Calif (DE-627)ELV020260245 volume:114 year:2022 number:5 pages:0 https://doi.org/10.1016/j.ygeno.2022.110469 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OPC-AST 55.50 Luftfahrzeugtechnik VZ 55.60 Raumfahrttechnik VZ 55.60 Raumfahrttechnik VZ AR 114 2022 5 0 |
| allfieldsSound |
10.1016/j.ygeno.2022.110469 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001905.pica (DE-627)ELV058968814 (ELSEVIER)S0888-7543(22)00214-2 DE-627 ger DE-627 rakwb eng 550 VZ 620 VZ 55.50 bkl 55.60 bkl 55.60 bkl Kameyama, Shinichi verfasserin aut Patients with biallelic GGC repeat expansions in NOTCH2NLC exhibiting a typical neuronal intranuclear inclusion disease phenotype 2022transfer abstract nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier We report two patients with autosomal dominant neuronal intranuclear inclusion disease (NIID) harboring the biallelic GGC repeat expansion in NOTCH2NLC to uncover the impact of repeat expansion zygosity on the clinical phenotype. The zygosity of the entire NOTCH2NLC GGC repeat expansion and DNA methylation were comprehensively evaluated using fluorescent amplicon length PCR (AL-PCR), Southern blotting and targeted long-read sequencing, and detailed genetic/epigenetic and clinical features were described. In AL-PCR, we could not recognize the wild-type allele in both patients. Targeted long-read sequencing revealed that one patient harbored a homozygous repeat expansion. The other patient harbored compound heterozygous repeat expansions. The GGC repeats and the nearest CpG island were hypomethylated in all expanded alleles in both patients. Both patients harboring the biallelic GGC repeat expansion showed a typical dementia-dominant NIID phenotype. In conclusion, the biallelic GGC repeat expansion in two typical NIID patients indicated that NOTCH2NLC-related diseases could be completely dominant. We report two patients with autosomal dominant neuronal intranuclear inclusion disease (NIID) harboring the biallelic GGC repeat expansion in NOTCH2NLC to uncover the impact of repeat expansion zygosity on the clinical phenotype. The zygosity of the entire NOTCH2NLC GGC repeat expansion and DNA methylation were comprehensively evaluated using fluorescent amplicon length PCR (AL-PCR), Southern blotting and targeted long-read sequencing, and detailed genetic/epigenetic and clinical features were described. In AL-PCR, we could not recognize the wild-type allele in both patients. Targeted long-read sequencing revealed that one patient harbored a homozygous repeat expansion. The other patient harbored compound heterozygous repeat expansions. The GGC repeats and the nearest CpG island were hypomethylated in all expanded alleles in both patients. Both patients harboring the biallelic GGC repeat expansion showed a typical dementia-dominant NIID phenotype. In conclusion, the biallelic GGC repeat expansion in two typical NIID patients indicated that NOTCH2NLC-related diseases could be completely dominant. Mizuguchi, Takeshi oth Doi, Hiroshi oth Koyano, Shigeru oth Okubo, Masaki oth Tada, Mikiko oth Shimizu, Hiroshi oth Fukuda, Hiromi oth Tsuchida, Naomi oth Uchiyama, Yuri oth Koshimizu, Eriko oth Hamanaka, Kohei oth Fujita, Atsushi oth Misawa, Kazuharu oth Miyatake, Satoko oth Kanai, Kazuaki oth Tanaka, Fumiaki oth Matsumoto, Naomichi oth Enthalten in Academic Press Redwan, Mostafa ELSEVIER Flood hazard assessment and heavy metal distributions around Um Gheig mine area, Eastern Desert, Egypt 2017transfer abstract an international journal for analysis of the human and other genomes San Diego, Calif (DE-627)ELV020260245 volume:114 year:2022 number:5 pages:0 https://doi.org/10.1016/j.ygeno.2022.110469 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OPC-AST 55.50 Luftfahrzeugtechnik VZ 55.60 Raumfahrttechnik VZ 55.60 Raumfahrttechnik VZ AR 114 2022 5 0 |
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Enthalten in Flood hazard assessment and heavy metal distributions around Um Gheig mine area, Eastern Desert, Egypt San Diego, Calif volume:114 year:2022 number:5 pages:0 |
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Enthalten in Flood hazard assessment and heavy metal distributions around Um Gheig mine area, Eastern Desert, Egypt San Diego, Calif volume:114 year:2022 number:5 pages:0 |
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Flood hazard assessment and heavy metal distributions around Um Gheig mine area, Eastern Desert, Egypt |
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Kameyama, Shinichi @@aut@@ Mizuguchi, Takeshi @@oth@@ Doi, Hiroshi @@oth@@ Koyano, Shigeru @@oth@@ Okubo, Masaki @@oth@@ Tada, Mikiko @@oth@@ Shimizu, Hiroshi @@oth@@ Fukuda, Hiromi @@oth@@ Tsuchida, Naomi @@oth@@ Uchiyama, Yuri @@oth@@ Koshimizu, Eriko @@oth@@ Hamanaka, Kohei @@oth@@ Fujita, Atsushi @@oth@@ Misawa, Kazuharu @@oth@@ Miyatake, Satoko @@oth@@ Kanai, Kazuaki @@oth@@ Tanaka, Fumiaki @@oth@@ Matsumoto, Naomichi @@oth@@ |
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patients with biallelic ggc repeat expansions in notch2nlc exhibiting a typical neuronal intranuclear inclusion disease phenotype |
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Patients with biallelic GGC repeat expansions in NOTCH2NLC exhibiting a typical neuronal intranuclear inclusion disease phenotype |
| abstract |
We report two patients with autosomal dominant neuronal intranuclear inclusion disease (NIID) harboring the biallelic GGC repeat expansion in NOTCH2NLC to uncover the impact of repeat expansion zygosity on the clinical phenotype. The zygosity of the entire NOTCH2NLC GGC repeat expansion and DNA methylation were comprehensively evaluated using fluorescent amplicon length PCR (AL-PCR), Southern blotting and targeted long-read sequencing, and detailed genetic/epigenetic and clinical features were described. In AL-PCR, we could not recognize the wild-type allele in both patients. Targeted long-read sequencing revealed that one patient harbored a homozygous repeat expansion. The other patient harbored compound heterozygous repeat expansions. The GGC repeats and the nearest CpG island were hypomethylated in all expanded alleles in both patients. Both patients harboring the biallelic GGC repeat expansion showed a typical dementia-dominant NIID phenotype. In conclusion, the biallelic GGC repeat expansion in two typical NIID patients indicated that NOTCH2NLC-related diseases could be completely dominant. |
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We report two patients with autosomal dominant neuronal intranuclear inclusion disease (NIID) harboring the biallelic GGC repeat expansion in NOTCH2NLC to uncover the impact of repeat expansion zygosity on the clinical phenotype. The zygosity of the entire NOTCH2NLC GGC repeat expansion and DNA methylation were comprehensively evaluated using fluorescent amplicon length PCR (AL-PCR), Southern blotting and targeted long-read sequencing, and detailed genetic/epigenetic and clinical features were described. In AL-PCR, we could not recognize the wild-type allele in both patients. Targeted long-read sequencing revealed that one patient harbored a homozygous repeat expansion. The other patient harbored compound heterozygous repeat expansions. The GGC repeats and the nearest CpG island were hypomethylated in all expanded alleles in both patients. Both patients harboring the biallelic GGC repeat expansion showed a typical dementia-dominant NIID phenotype. In conclusion, the biallelic GGC repeat expansion in two typical NIID patients indicated that NOTCH2NLC-related diseases could be completely dominant. |
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We report two patients with autosomal dominant neuronal intranuclear inclusion disease (NIID) harboring the biallelic GGC repeat expansion in NOTCH2NLC to uncover the impact of repeat expansion zygosity on the clinical phenotype. The zygosity of the entire NOTCH2NLC GGC repeat expansion and DNA methylation were comprehensively evaluated using fluorescent amplicon length PCR (AL-PCR), Southern blotting and targeted long-read sequencing, and detailed genetic/epigenetic and clinical features were described. In AL-PCR, we could not recognize the wild-type allele in both patients. Targeted long-read sequencing revealed that one patient harbored a homozygous repeat expansion. The other patient harbored compound heterozygous repeat expansions. The GGC repeats and the nearest CpG island were hypomethylated in all expanded alleles in both patients. Both patients harboring the biallelic GGC repeat expansion showed a typical dementia-dominant NIID phenotype. In conclusion, the biallelic GGC repeat expansion in two typical NIID patients indicated that NOTCH2NLC-related diseases could be completely dominant. |
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In conclusion, the biallelic GGC repeat expansion in two typical NIID patients indicated that NOTCH2NLC-related diseases could be completely dominant.</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">We report two patients with autosomal dominant neuronal intranuclear inclusion disease (NIID) harboring the biallelic GGC repeat expansion in NOTCH2NLC to uncover the impact of repeat expansion zygosity on the clinical phenotype. The zygosity of the entire NOTCH2NLC GGC repeat expansion and DNA methylation were comprehensively evaluated using fluorescent amplicon length PCR (AL-PCR), Southern blotting and targeted long-read sequencing, and detailed genetic/epigenetic and clinical features were described. In AL-PCR, we could not recognize the wild-type allele in both patients. Targeted long-read sequencing revealed that one patient harbored a homozygous repeat expansion. The other patient harbored compound heterozygous repeat expansions. The GGC repeats and the nearest CpG island were hypomethylated in all expanded alleles in both patients. Both patients harboring the biallelic GGC repeat expansion showed a typical dementia-dominant NIID phenotype. In conclusion, the biallelic GGC repeat expansion in two typical NIID patients indicated that NOTCH2NLC-related diseases could be completely dominant.</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Mizuguchi, Takeshi</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Doi, Hiroshi</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Koyano, Shigeru</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Okubo, Masaki</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Tada, Mikiko</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Shimizu, Hiroshi</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Fukuda, Hiromi</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Tsuchida, Naomi</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Uchiyama, Yuri</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Koshimizu, Eriko</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Hamanaka, Kohei</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Fujita, Atsushi</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Misawa, Kazuharu</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Miyatake, Satoko</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Kanai, Kazuaki</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Tanaka, Fumiaki</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Matsumoto, Naomichi</subfield><subfield code="4">oth</subfield></datafield><datafield tag="773" ind1="0" ind2="8"><subfield code="i">Enthalten in</subfield><subfield code="n">Academic Press</subfield><subfield code="a">Redwan, Mostafa ELSEVIER</subfield><subfield code="t">Flood hazard assessment and heavy metal distributions around Um Gheig mine area, Eastern Desert, Egypt</subfield><subfield code="d">2017transfer abstract</subfield><subfield code="d">an international journal for analysis of the human and other genomes</subfield><subfield code="g">San Diego, Calif</subfield><subfield code="w">(DE-627)ELV020260245</subfield></datafield><datafield tag="773" ind1="1" ind2="8"><subfield code="g">volume:114</subfield><subfield code="g">year:2022</subfield><subfield code="g">number:5</subfield><subfield code="g">pages:0</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://doi.org/10.1016/j.ygeno.2022.110469</subfield><subfield code="3">Volltext</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_USEFLAG_U</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ELV</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SYSFLAG_U</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SSG-OPC-AST</subfield></datafield><datafield tag="936" ind1="b" ind2="k"><subfield code="a">55.50</subfield><subfield code="j">Luftfahrzeugtechnik</subfield><subfield code="q">VZ</subfield></datafield><datafield tag="936" ind1="b" ind2="k"><subfield code="a">55.60</subfield><subfield code="j">Raumfahrttechnik</subfield><subfield code="q">VZ</subfield></datafield><datafield tag="936" ind1="b" ind2="k"><subfield code="a">55.60</subfield><subfield code="j">Raumfahrttechnik</subfield><subfield code="q">VZ</subfield></datafield><datafield tag="951" ind1=" " ind2=" "><subfield code="a">AR</subfield></datafield><datafield tag="952" ind1=" " ind2=" "><subfield code="d">114</subfield><subfield code="j">2022</subfield><subfield code="e">5</subfield><subfield code="h">0</subfield></datafield></record></collection>
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