Two males with sick sinus syndrome in a family with 0.6 kb deletions involving major domains in MECP2
Mutations in methyl-CpG-binding protein 2 (MECP2) in males can lead to various phenotypes, ranging from neonatal encephalopathy to intellectual disability. In this study, using Nord's method of next-generation sequencing in three siblings, we identified a 0.6 kb deletion involving the transcrip...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Inui, Takehiko [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2020transfer abstract |
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| Schlagwörter: |
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| Übergeordnetes Werk: |
Enthalten in: Edge minimization in de Bruijn graphs - Baier, Uwe ELSEVIER, 2021, New York, NY [u.a.] |
|---|---|
| Übergeordnetes Werk: |
volume:63 ; year:2020 ; number:3 ; pages:0 |
| Links: |
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| DOI / URN: |
10.1016/j.ejmg.2019.103769 |
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| 245 | 1 | 0 | |a Two males with sick sinus syndrome in a family with 0.6 kb deletions involving major domains in MECP2 |
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| 520 | |a Mutations in methyl-CpG-binding protein 2 (MECP2) in males can lead to various phenotypes, ranging from neonatal encephalopathy to intellectual disability. In this study, using Nord's method of next-generation sequencing in three siblings, we identified a 0.6 kb deletion involving the transcriptional repression domain (TRD). Two males and one female had intellectual disability and apnea, but none met the criteria of Rett syndrome. Both males had sick sinus syndrome and severe tracheomalacia that resulted in early death. The mother, with skewed X-inactivation, had no symptoms. Therefore, this mutation is pathological for both males and females, resulting in sick sinus syndrome and severe tracheomalacia with strong reproducibility in males. Deletions involving major domains in MECP2 can result in a severe phenotype, and deletion of the TRD domain can cause severe autonomic nervous system dysregulation in males in these cases. | ||
| 520 | |a Mutations in methyl-CpG-binding protein 2 (MECP2) in males can lead to various phenotypes, ranging from neonatal encephalopathy to intellectual disability. In this study, using Nord's method of next-generation sequencing in three siblings, we identified a 0.6 kb deletion involving the transcriptional repression domain (TRD). Two males and one female had intellectual disability and apnea, but none met the criteria of Rett syndrome. Both males had sick sinus syndrome and severe tracheomalacia that resulted in early death. The mother, with skewed X-inactivation, had no symptoms. Therefore, this mutation is pathological for both males and females, resulting in sick sinus syndrome and severe tracheomalacia with strong reproducibility in males. Deletions involving major domains in MECP2 can result in a severe phenotype, and deletion of the TRD domain can cause severe autonomic nervous system dysregulation in males in these cases. | ||
| 650 | 7 | |a Large deletion |2 Elsevier | |
| 650 | 7 | |a MECP2 |2 Elsevier | |
| 650 | 7 | |a Whole-exome sequencing |2 Elsevier | |
| 650 | 7 | |a Autonomic nervous system dysregulation |2 Elsevier | |
| 650 | 7 | |a Nord's method |2 Elsevier | |
| 650 | 7 | |a Sick sinus syndrome |2 Elsevier | |
| 700 | 1 | |a Iwama, Kazuhiro |4 oth | |
| 700 | 1 | |a Miyabayashi, Takuya |4 oth | |
| 700 | 1 | |a Sato, Ryo |4 oth | |
| 700 | 1 | |a Okubo, Yukimune |4 oth | |
| 700 | 1 | |a Endo, Wakaba |4 oth | |
| 700 | 1 | |a Togashi, Noriko |4 oth | |
| 700 | 1 | |a Kakisaka, Yosuke |4 oth | |
| 700 | 1 | |a Kikuchi, Atsuo |4 oth | |
| 700 | 1 | |a Mizuguchi, Takeshi |4 oth | |
| 700 | 1 | |a Kure, Shigeo |4 oth | |
| 700 | 1 | |a Matsumoto, Naomichi |4 oth | |
| 700 | 1 | |a Haginoya, Kazuhiro |4 oth | |
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10.1016/j.ejmg.2019.103769 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000000921.pica (DE-627)ELV049480278 (ELSEVIER)S1769-7212(19)30168-5 DE-627 ger DE-627 rakwb eng 330 004 VZ LING DE-30 fid 54.00 bkl 31.80 bkl Inui, Takehiko verfasserin aut Two males with sick sinus syndrome in a family with 0.6 kb deletions involving major domains in MECP2 2020transfer abstract nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Mutations in methyl-CpG-binding protein 2 (MECP2) in males can lead to various phenotypes, ranging from neonatal encephalopathy to intellectual disability. In this study, using Nord's method of next-generation sequencing in three siblings, we identified a 0.6 kb deletion involving the transcriptional repression domain (TRD). Two males and one female had intellectual disability and apnea, but none met the criteria of Rett syndrome. Both males had sick sinus syndrome and severe tracheomalacia that resulted in early death. The mother, with skewed X-inactivation, had no symptoms. Therefore, this mutation is pathological for both males and females, resulting in sick sinus syndrome and severe tracheomalacia with strong reproducibility in males. Deletions involving major domains in MECP2 can result in a severe phenotype, and deletion of the TRD domain can cause severe autonomic nervous system dysregulation in males in these cases. Mutations in methyl-CpG-binding protein 2 (MECP2) in males can lead to various phenotypes, ranging from neonatal encephalopathy to intellectual disability. In this study, using Nord's method of next-generation sequencing in three siblings, we identified a 0.6 kb deletion involving the transcriptional repression domain (TRD). Two males and one female had intellectual disability and apnea, but none met the criteria of Rett syndrome. Both males had sick sinus syndrome and severe tracheomalacia that resulted in early death. The mother, with skewed X-inactivation, had no symptoms. Therefore, this mutation is pathological for both males and females, resulting in sick sinus syndrome and severe tracheomalacia with strong reproducibility in males. Deletions involving major domains in MECP2 can result in a severe phenotype, and deletion of the TRD domain can cause severe autonomic nervous system dysregulation in males in these cases. Large deletion Elsevier MECP2 Elsevier Whole-exome sequencing Elsevier Autonomic nervous system dysregulation Elsevier Nord's method Elsevier Sick sinus syndrome Elsevier Iwama, Kazuhiro oth Miyabayashi, Takuya oth Sato, Ryo oth Okubo, Yukimune oth Endo, Wakaba oth Togashi, Noriko oth Kakisaka, Yosuke oth Kikuchi, Atsuo oth Mizuguchi, Takeshi oth Kure, Shigeo oth Matsumoto, Naomichi oth Haginoya, Kazuhiro oth Enthalten in Elsevier Baier, Uwe ELSEVIER Edge minimization in de Bruijn graphs 2021 New York, NY [u.a.] (DE-627)ELV007996306 volume:63 year:2020 number:3 pages:0 https://doi.org/10.1016/j.ejmg.2019.103769 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-LING SSG-OPC-MAT 54.00 Informatik: Allgemeines VZ 31.80 Angewandte Mathematik VZ AR 63 2020 3 0 |
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10.1016/j.ejmg.2019.103769 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000000921.pica (DE-627)ELV049480278 (ELSEVIER)S1769-7212(19)30168-5 DE-627 ger DE-627 rakwb eng 330 004 VZ LING DE-30 fid 54.00 bkl 31.80 bkl Inui, Takehiko verfasserin aut Two males with sick sinus syndrome in a family with 0.6 kb deletions involving major domains in MECP2 2020transfer abstract nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Mutations in methyl-CpG-binding protein 2 (MECP2) in males can lead to various phenotypes, ranging from neonatal encephalopathy to intellectual disability. In this study, using Nord's method of next-generation sequencing in three siblings, we identified a 0.6 kb deletion involving the transcriptional repression domain (TRD). Two males and one female had intellectual disability and apnea, but none met the criteria of Rett syndrome. Both males had sick sinus syndrome and severe tracheomalacia that resulted in early death. The mother, with skewed X-inactivation, had no symptoms. Therefore, this mutation is pathological for both males and females, resulting in sick sinus syndrome and severe tracheomalacia with strong reproducibility in males. Deletions involving major domains in MECP2 can result in a severe phenotype, and deletion of the TRD domain can cause severe autonomic nervous system dysregulation in males in these cases. Mutations in methyl-CpG-binding protein 2 (MECP2) in males can lead to various phenotypes, ranging from neonatal encephalopathy to intellectual disability. In this study, using Nord's method of next-generation sequencing in three siblings, we identified a 0.6 kb deletion involving the transcriptional repression domain (TRD). Two males and one female had intellectual disability and apnea, but none met the criteria of Rett syndrome. Both males had sick sinus syndrome and severe tracheomalacia that resulted in early death. The mother, with skewed X-inactivation, had no symptoms. Therefore, this mutation is pathological for both males and females, resulting in sick sinus syndrome and severe tracheomalacia with strong reproducibility in males. Deletions involving major domains in MECP2 can result in a severe phenotype, and deletion of the TRD domain can cause severe autonomic nervous system dysregulation in males in these cases. Large deletion Elsevier MECP2 Elsevier Whole-exome sequencing Elsevier Autonomic nervous system dysregulation Elsevier Nord's method Elsevier Sick sinus syndrome Elsevier Iwama, Kazuhiro oth Miyabayashi, Takuya oth Sato, Ryo oth Okubo, Yukimune oth Endo, Wakaba oth Togashi, Noriko oth Kakisaka, Yosuke oth Kikuchi, Atsuo oth Mizuguchi, Takeshi oth Kure, Shigeo oth Matsumoto, Naomichi oth Haginoya, Kazuhiro oth Enthalten in Elsevier Baier, Uwe ELSEVIER Edge minimization in de Bruijn graphs 2021 New York, NY [u.a.] (DE-627)ELV007996306 volume:63 year:2020 number:3 pages:0 https://doi.org/10.1016/j.ejmg.2019.103769 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-LING SSG-OPC-MAT 54.00 Informatik: Allgemeines VZ 31.80 Angewandte Mathematik VZ AR 63 2020 3 0 |
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10.1016/j.ejmg.2019.103769 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000000921.pica (DE-627)ELV049480278 (ELSEVIER)S1769-7212(19)30168-5 DE-627 ger DE-627 rakwb eng 330 004 VZ LING DE-30 fid 54.00 bkl 31.80 bkl Inui, Takehiko verfasserin aut Two males with sick sinus syndrome in a family with 0.6 kb deletions involving major domains in MECP2 2020transfer abstract nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Mutations in methyl-CpG-binding protein 2 (MECP2) in males can lead to various phenotypes, ranging from neonatal encephalopathy to intellectual disability. In this study, using Nord's method of next-generation sequencing in three siblings, we identified a 0.6 kb deletion involving the transcriptional repression domain (TRD). Two males and one female had intellectual disability and apnea, but none met the criteria of Rett syndrome. Both males had sick sinus syndrome and severe tracheomalacia that resulted in early death. The mother, with skewed X-inactivation, had no symptoms. Therefore, this mutation is pathological for both males and females, resulting in sick sinus syndrome and severe tracheomalacia with strong reproducibility in males. Deletions involving major domains in MECP2 can result in a severe phenotype, and deletion of the TRD domain can cause severe autonomic nervous system dysregulation in males in these cases. Mutations in methyl-CpG-binding protein 2 (MECP2) in males can lead to various phenotypes, ranging from neonatal encephalopathy to intellectual disability. In this study, using Nord's method of next-generation sequencing in three siblings, we identified a 0.6 kb deletion involving the transcriptional repression domain (TRD). Two males and one female had intellectual disability and apnea, but none met the criteria of Rett syndrome. Both males had sick sinus syndrome and severe tracheomalacia that resulted in early death. The mother, with skewed X-inactivation, had no symptoms. Therefore, this mutation is pathological for both males and females, resulting in sick sinus syndrome and severe tracheomalacia with strong reproducibility in males. Deletions involving major domains in MECP2 can result in a severe phenotype, and deletion of the TRD domain can cause severe autonomic nervous system dysregulation in males in these cases. Large deletion Elsevier MECP2 Elsevier Whole-exome sequencing Elsevier Autonomic nervous system dysregulation Elsevier Nord's method Elsevier Sick sinus syndrome Elsevier Iwama, Kazuhiro oth Miyabayashi, Takuya oth Sato, Ryo oth Okubo, Yukimune oth Endo, Wakaba oth Togashi, Noriko oth Kakisaka, Yosuke oth Kikuchi, Atsuo oth Mizuguchi, Takeshi oth Kure, Shigeo oth Matsumoto, Naomichi oth Haginoya, Kazuhiro oth Enthalten in Elsevier Baier, Uwe ELSEVIER Edge minimization in de Bruijn graphs 2021 New York, NY [u.a.] (DE-627)ELV007996306 volume:63 year:2020 number:3 pages:0 https://doi.org/10.1016/j.ejmg.2019.103769 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-LING SSG-OPC-MAT 54.00 Informatik: Allgemeines VZ 31.80 Angewandte Mathematik VZ AR 63 2020 3 0 |
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10.1016/j.ejmg.2019.103769 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000000921.pica (DE-627)ELV049480278 (ELSEVIER)S1769-7212(19)30168-5 DE-627 ger DE-627 rakwb eng 330 004 VZ LING DE-30 fid 54.00 bkl 31.80 bkl Inui, Takehiko verfasserin aut Two males with sick sinus syndrome in a family with 0.6 kb deletions involving major domains in MECP2 2020transfer abstract nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Mutations in methyl-CpG-binding protein 2 (MECP2) in males can lead to various phenotypes, ranging from neonatal encephalopathy to intellectual disability. In this study, using Nord's method of next-generation sequencing in three siblings, we identified a 0.6 kb deletion involving the transcriptional repression domain (TRD). Two males and one female had intellectual disability and apnea, but none met the criteria of Rett syndrome. Both males had sick sinus syndrome and severe tracheomalacia that resulted in early death. The mother, with skewed X-inactivation, had no symptoms. Therefore, this mutation is pathological for both males and females, resulting in sick sinus syndrome and severe tracheomalacia with strong reproducibility in males. Deletions involving major domains in MECP2 can result in a severe phenotype, and deletion of the TRD domain can cause severe autonomic nervous system dysregulation in males in these cases. Mutations in methyl-CpG-binding protein 2 (MECP2) in males can lead to various phenotypes, ranging from neonatal encephalopathy to intellectual disability. In this study, using Nord's method of next-generation sequencing in three siblings, we identified a 0.6 kb deletion involving the transcriptional repression domain (TRD). Two males and one female had intellectual disability and apnea, but none met the criteria of Rett syndrome. Both males had sick sinus syndrome and severe tracheomalacia that resulted in early death. The mother, with skewed X-inactivation, had no symptoms. Therefore, this mutation is pathological for both males and females, resulting in sick sinus syndrome and severe tracheomalacia with strong reproducibility in males. Deletions involving major domains in MECP2 can result in a severe phenotype, and deletion of the TRD domain can cause severe autonomic nervous system dysregulation in males in these cases. Large deletion Elsevier MECP2 Elsevier Whole-exome sequencing Elsevier Autonomic nervous system dysregulation Elsevier Nord's method Elsevier Sick sinus syndrome Elsevier Iwama, Kazuhiro oth Miyabayashi, Takuya oth Sato, Ryo oth Okubo, Yukimune oth Endo, Wakaba oth Togashi, Noriko oth Kakisaka, Yosuke oth Kikuchi, Atsuo oth Mizuguchi, Takeshi oth Kure, Shigeo oth Matsumoto, Naomichi oth Haginoya, Kazuhiro oth Enthalten in Elsevier Baier, Uwe ELSEVIER Edge minimization in de Bruijn graphs 2021 New York, NY [u.a.] (DE-627)ELV007996306 volume:63 year:2020 number:3 pages:0 https://doi.org/10.1016/j.ejmg.2019.103769 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-LING SSG-OPC-MAT 54.00 Informatik: Allgemeines VZ 31.80 Angewandte Mathematik VZ AR 63 2020 3 0 |
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10.1016/j.ejmg.2019.103769 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000000921.pica (DE-627)ELV049480278 (ELSEVIER)S1769-7212(19)30168-5 DE-627 ger DE-627 rakwb eng 330 004 VZ LING DE-30 fid 54.00 bkl 31.80 bkl Inui, Takehiko verfasserin aut Two males with sick sinus syndrome in a family with 0.6 kb deletions involving major domains in MECP2 2020transfer abstract nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Mutations in methyl-CpG-binding protein 2 (MECP2) in males can lead to various phenotypes, ranging from neonatal encephalopathy to intellectual disability. In this study, using Nord's method of next-generation sequencing in three siblings, we identified a 0.6 kb deletion involving the transcriptional repression domain (TRD). Two males and one female had intellectual disability and apnea, but none met the criteria of Rett syndrome. Both males had sick sinus syndrome and severe tracheomalacia that resulted in early death. The mother, with skewed X-inactivation, had no symptoms. Therefore, this mutation is pathological for both males and females, resulting in sick sinus syndrome and severe tracheomalacia with strong reproducibility in males. Deletions involving major domains in MECP2 can result in a severe phenotype, and deletion of the TRD domain can cause severe autonomic nervous system dysregulation in males in these cases. Mutations in methyl-CpG-binding protein 2 (MECP2) in males can lead to various phenotypes, ranging from neonatal encephalopathy to intellectual disability. In this study, using Nord's method of next-generation sequencing in three siblings, we identified a 0.6 kb deletion involving the transcriptional repression domain (TRD). Two males and one female had intellectual disability and apnea, but none met the criteria of Rett syndrome. Both males had sick sinus syndrome and severe tracheomalacia that resulted in early death. The mother, with skewed X-inactivation, had no symptoms. Therefore, this mutation is pathological for both males and females, resulting in sick sinus syndrome and severe tracheomalacia with strong reproducibility in males. Deletions involving major domains in MECP2 can result in a severe phenotype, and deletion of the TRD domain can cause severe autonomic nervous system dysregulation in males in these cases. Large deletion Elsevier MECP2 Elsevier Whole-exome sequencing Elsevier Autonomic nervous system dysregulation Elsevier Nord's method Elsevier Sick sinus syndrome Elsevier Iwama, Kazuhiro oth Miyabayashi, Takuya oth Sato, Ryo oth Okubo, Yukimune oth Endo, Wakaba oth Togashi, Noriko oth Kakisaka, Yosuke oth Kikuchi, Atsuo oth Mizuguchi, Takeshi oth Kure, Shigeo oth Matsumoto, Naomichi oth Haginoya, Kazuhiro oth Enthalten in Elsevier Baier, Uwe ELSEVIER Edge minimization in de Bruijn graphs 2021 New York, NY [u.a.] (DE-627)ELV007996306 volume:63 year:2020 number:3 pages:0 https://doi.org/10.1016/j.ejmg.2019.103769 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-LING SSG-OPC-MAT 54.00 Informatik: Allgemeines VZ 31.80 Angewandte Mathematik VZ AR 63 2020 3 0 |
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two males with sick sinus syndrome in a family with 0.6 kb deletions involving major domains in mecp2 |
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Two males with sick sinus syndrome in a family with 0.6 kb deletions involving major domains in MECP2 |
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Mutations in methyl-CpG-binding protein 2 (MECP2) in males can lead to various phenotypes, ranging from neonatal encephalopathy to intellectual disability. In this study, using Nord's method of next-generation sequencing in three siblings, we identified a 0.6 kb deletion involving the transcriptional repression domain (TRD). Two males and one female had intellectual disability and apnea, but none met the criteria of Rett syndrome. Both males had sick sinus syndrome and severe tracheomalacia that resulted in early death. The mother, with skewed X-inactivation, had no symptoms. Therefore, this mutation is pathological for both males and females, resulting in sick sinus syndrome and severe tracheomalacia with strong reproducibility in males. Deletions involving major domains in MECP2 can result in a severe phenotype, and deletion of the TRD domain can cause severe autonomic nervous system dysregulation in males in these cases. |
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Mutations in methyl-CpG-binding protein 2 (MECP2) in males can lead to various phenotypes, ranging from neonatal encephalopathy to intellectual disability. In this study, using Nord's method of next-generation sequencing in three siblings, we identified a 0.6 kb deletion involving the transcriptional repression domain (TRD). Two males and one female had intellectual disability and apnea, but none met the criteria of Rett syndrome. Both males had sick sinus syndrome and severe tracheomalacia that resulted in early death. The mother, with skewed X-inactivation, had no symptoms. Therefore, this mutation is pathological for both males and females, resulting in sick sinus syndrome and severe tracheomalacia with strong reproducibility in males. Deletions involving major domains in MECP2 can result in a severe phenotype, and deletion of the TRD domain can cause severe autonomic nervous system dysregulation in males in these cases. |
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Mutations in methyl-CpG-binding protein 2 (MECP2) in males can lead to various phenotypes, ranging from neonatal encephalopathy to intellectual disability. In this study, using Nord's method of next-generation sequencing in three siblings, we identified a 0.6 kb deletion involving the transcriptional repression domain (TRD). Two males and one female had intellectual disability and apnea, but none met the criteria of Rett syndrome. Both males had sick sinus syndrome and severe tracheomalacia that resulted in early death. The mother, with skewed X-inactivation, had no symptoms. Therefore, this mutation is pathological for both males and females, resulting in sick sinus syndrome and severe tracheomalacia with strong reproducibility in males. Deletions involving major domains in MECP2 can result in a severe phenotype, and deletion of the TRD domain can cause severe autonomic nervous system dysregulation in males in these cases. |
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