Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders
We report the case of a 6-year-old female patient with Ataxia Telangiectasia, an extremely rare condition, who developed in addition a left cerebellar astrocytoma and a right cerebellar infarction, considered as two independent events. Children with AT have an increased risk of developing cancer, bu...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Piane, Maria [verfasserIn] |
|---|
| Format: |
E-Artikel |
|---|---|
| Sprache: |
Englisch |
| Erschienen: |
2016transfer abstract |
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| Umfang: |
6 |
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| Übergeordnetes Werk: |
Enthalten in: A new global analytical potential energy surface of NaH - Yuan, Meiling ELSEVIER, 2018, official journal of the World Federation of Neurology, Amsterdam [u.a.] |
|---|---|
| Übergeordnetes Werk: |
volume:371 ; year:2016 ; day:15 ; month:12 ; pages:48-53 ; extent:6 |
| Links: |
|---|
| DOI / URN: |
10.1016/j.jns.2016.10.014 |
|---|
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| 520 | |a We report the case of a 6-year-old female patient with Ataxia Telangiectasia, an extremely rare condition, who developed in addition a left cerebellar astrocytoma and a right cerebellar infarction, considered as two independent events. Children with AT have an increased risk of developing cancer, but only few cases of glioma are reported and, at our knowledge, no other case of unrelated cerebellar glioma and cerebellar infarction in with the same AT patient have been described. The molecular analysis of ATM (Ataxia Telangiectasia Mutated) gene showed that the patient is compound heterozygote for two previously unreported mutations: c.3291delC (p.Phe1097fs) at exon 25 and c.8198A>C (p.Gln2733Pro) at exon 58. The role of the identified ATM gene mutations in the pathogenesis of Ataxia Telangiectasia and the coexisting cerebellar disorders is discussed. | ||
| 520 | |a We report the case of a 6-year-old female patient with Ataxia Telangiectasia, an extremely rare condition, who developed in addition a left cerebellar astrocytoma and a right cerebellar infarction, considered as two independent events. Children with AT have an increased risk of developing cancer, but only few cases of glioma are reported and, at our knowledge, no other case of unrelated cerebellar glioma and cerebellar infarction in with the same AT patient have been described. The molecular analysis of ATM (Ataxia Telangiectasia Mutated) gene showed that the patient is compound heterozygote for two previously unreported mutations: c.3291delC (p.Phe1097fs) at exon 25 and c.8198A>C (p.Gln2733Pro) at exon 58. The role of the identified ATM gene mutations in the pathogenesis of Ataxia Telangiectasia and the coexisting cerebellar disorders is discussed. | ||
| 700 | 1 | |a Molinaro, Anna |4 oth | |
| 700 | 1 | |a Soresina, Annarosa |4 oth | |
| 700 | 1 | |a Costa, Silvia |4 oth | |
| 700 | 1 | |a Maffeis, Marianna |4 oth | |
| 700 | 1 | |a Germani, Aldo |4 oth | |
| 700 | 1 | |a Pinelli, Lorenzo |4 oth | |
| 700 | 1 | |a Meschini, Roberta |4 oth | |
| 700 | 1 | |a Plebani, Alessandro |4 oth | |
| 700 | 1 | |a Chessa, Luciana |4 oth | |
| 700 | 1 | |a Micheli, Roberto |4 oth | |
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10.1016/j.jns.2016.10.014 doi GBVA2016022000024.pica (DE-627)ELV019882033 (ELSEVIER)S0022-510X(16)30644-X DE-627 ger DE-627 rakwb eng 610 610 DE-600 540 VZ 35.10 bkl Piane, Maria verfasserin aut Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders 2016transfer abstract 6 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier We report the case of a 6-year-old female patient with Ataxia Telangiectasia, an extremely rare condition, who developed in addition a left cerebellar astrocytoma and a right cerebellar infarction, considered as two independent events. Children with AT have an increased risk of developing cancer, but only few cases of glioma are reported and, at our knowledge, no other case of unrelated cerebellar glioma and cerebellar infarction in with the same AT patient have been described. The molecular analysis of ATM (Ataxia Telangiectasia Mutated) gene showed that the patient is compound heterozygote for two previously unreported mutations: c.3291delC (p.Phe1097fs) at exon 25 and c.8198A>C (p.Gln2733Pro) at exon 58. The role of the identified ATM gene mutations in the pathogenesis of Ataxia Telangiectasia and the coexisting cerebellar disorders is discussed. We report the case of a 6-year-old female patient with Ataxia Telangiectasia, an extremely rare condition, who developed in addition a left cerebellar astrocytoma and a right cerebellar infarction, considered as two independent events. Children with AT have an increased risk of developing cancer, but only few cases of glioma are reported and, at our knowledge, no other case of unrelated cerebellar glioma and cerebellar infarction in with the same AT patient have been described. The molecular analysis of ATM (Ataxia Telangiectasia Mutated) gene showed that the patient is compound heterozygote for two previously unreported mutations: c.3291delC (p.Phe1097fs) at exon 25 and c.8198A>C (p.Gln2733Pro) at exon 58. The role of the identified ATM gene mutations in the pathogenesis of Ataxia Telangiectasia and the coexisting cerebellar disorders is discussed. Molinaro, Anna oth Soresina, Annarosa oth Costa, Silvia oth Maffeis, Marianna oth Germani, Aldo oth Pinelli, Lorenzo oth Meschini, Roberta oth Plebani, Alessandro oth Chessa, Luciana oth Micheli, Roberto oth Enthalten in Elsevier Science Yuan, Meiling ELSEVIER A new global analytical potential energy surface of NaH 2018 official journal of the World Federation of Neurology Amsterdam [u.a.] (DE-627)ELV001315870 volume:371 year:2016 day:15 month:12 pages:48-53 extent:6 https://doi.org/10.1016/j.jns.2016.10.014 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 35.10 Physikalische Chemie: Allgemeines VZ AR 371 2016 15 1215 48-53 6 045F 610 |
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10.1016/j.jns.2016.10.014 doi GBVA2016022000024.pica (DE-627)ELV019882033 (ELSEVIER)S0022-510X(16)30644-X DE-627 ger DE-627 rakwb eng 610 610 DE-600 540 VZ 35.10 bkl Piane, Maria verfasserin aut Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders 2016transfer abstract 6 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier We report the case of a 6-year-old female patient with Ataxia Telangiectasia, an extremely rare condition, who developed in addition a left cerebellar astrocytoma and a right cerebellar infarction, considered as two independent events. Children with AT have an increased risk of developing cancer, but only few cases of glioma are reported and, at our knowledge, no other case of unrelated cerebellar glioma and cerebellar infarction in with the same AT patient have been described. The molecular analysis of ATM (Ataxia Telangiectasia Mutated) gene showed that the patient is compound heterozygote for two previously unreported mutations: c.3291delC (p.Phe1097fs) at exon 25 and c.8198A>C (p.Gln2733Pro) at exon 58. The role of the identified ATM gene mutations in the pathogenesis of Ataxia Telangiectasia and the coexisting cerebellar disorders is discussed. We report the case of a 6-year-old female patient with Ataxia Telangiectasia, an extremely rare condition, who developed in addition a left cerebellar astrocytoma and a right cerebellar infarction, considered as two independent events. Children with AT have an increased risk of developing cancer, but only few cases of glioma are reported and, at our knowledge, no other case of unrelated cerebellar glioma and cerebellar infarction in with the same AT patient have been described. The molecular analysis of ATM (Ataxia Telangiectasia Mutated) gene showed that the patient is compound heterozygote for two previously unreported mutations: c.3291delC (p.Phe1097fs) at exon 25 and c.8198A>C (p.Gln2733Pro) at exon 58. The role of the identified ATM gene mutations in the pathogenesis of Ataxia Telangiectasia and the coexisting cerebellar disorders is discussed. Molinaro, Anna oth Soresina, Annarosa oth Costa, Silvia oth Maffeis, Marianna oth Germani, Aldo oth Pinelli, Lorenzo oth Meschini, Roberta oth Plebani, Alessandro oth Chessa, Luciana oth Micheli, Roberto oth Enthalten in Elsevier Science Yuan, Meiling ELSEVIER A new global analytical potential energy surface of NaH 2018 official journal of the World Federation of Neurology Amsterdam [u.a.] (DE-627)ELV001315870 volume:371 year:2016 day:15 month:12 pages:48-53 extent:6 https://doi.org/10.1016/j.jns.2016.10.014 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 35.10 Physikalische Chemie: Allgemeines VZ AR 371 2016 15 1215 48-53 6 045F 610 |
| allfields_unstemmed |
10.1016/j.jns.2016.10.014 doi GBVA2016022000024.pica (DE-627)ELV019882033 (ELSEVIER)S0022-510X(16)30644-X DE-627 ger DE-627 rakwb eng 610 610 DE-600 540 VZ 35.10 bkl Piane, Maria verfasserin aut Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders 2016transfer abstract 6 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier We report the case of a 6-year-old female patient with Ataxia Telangiectasia, an extremely rare condition, who developed in addition a left cerebellar astrocytoma and a right cerebellar infarction, considered as two independent events. Children with AT have an increased risk of developing cancer, but only few cases of glioma are reported and, at our knowledge, no other case of unrelated cerebellar glioma and cerebellar infarction in with the same AT patient have been described. The molecular analysis of ATM (Ataxia Telangiectasia Mutated) gene showed that the patient is compound heterozygote for two previously unreported mutations: c.3291delC (p.Phe1097fs) at exon 25 and c.8198A>C (p.Gln2733Pro) at exon 58. The role of the identified ATM gene mutations in the pathogenesis of Ataxia Telangiectasia and the coexisting cerebellar disorders is discussed. We report the case of a 6-year-old female patient with Ataxia Telangiectasia, an extremely rare condition, who developed in addition a left cerebellar astrocytoma and a right cerebellar infarction, considered as two independent events. Children with AT have an increased risk of developing cancer, but only few cases of glioma are reported and, at our knowledge, no other case of unrelated cerebellar glioma and cerebellar infarction in with the same AT patient have been described. The molecular analysis of ATM (Ataxia Telangiectasia Mutated) gene showed that the patient is compound heterozygote for two previously unreported mutations: c.3291delC (p.Phe1097fs) at exon 25 and c.8198A>C (p.Gln2733Pro) at exon 58. The role of the identified ATM gene mutations in the pathogenesis of Ataxia Telangiectasia and the coexisting cerebellar disorders is discussed. Molinaro, Anna oth Soresina, Annarosa oth Costa, Silvia oth Maffeis, Marianna oth Germani, Aldo oth Pinelli, Lorenzo oth Meschini, Roberta oth Plebani, Alessandro oth Chessa, Luciana oth Micheli, Roberto oth Enthalten in Elsevier Science Yuan, Meiling ELSEVIER A new global analytical potential energy surface of NaH 2018 official journal of the World Federation of Neurology Amsterdam [u.a.] (DE-627)ELV001315870 volume:371 year:2016 day:15 month:12 pages:48-53 extent:6 https://doi.org/10.1016/j.jns.2016.10.014 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 35.10 Physikalische Chemie: Allgemeines VZ AR 371 2016 15 1215 48-53 6 045F 610 |
| allfieldsGer |
10.1016/j.jns.2016.10.014 doi GBVA2016022000024.pica (DE-627)ELV019882033 (ELSEVIER)S0022-510X(16)30644-X DE-627 ger DE-627 rakwb eng 610 610 DE-600 540 VZ 35.10 bkl Piane, Maria verfasserin aut Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders 2016transfer abstract 6 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier We report the case of a 6-year-old female patient with Ataxia Telangiectasia, an extremely rare condition, who developed in addition a left cerebellar astrocytoma and a right cerebellar infarction, considered as two independent events. Children with AT have an increased risk of developing cancer, but only few cases of glioma are reported and, at our knowledge, no other case of unrelated cerebellar glioma and cerebellar infarction in with the same AT patient have been described. The molecular analysis of ATM (Ataxia Telangiectasia Mutated) gene showed that the patient is compound heterozygote for two previously unreported mutations: c.3291delC (p.Phe1097fs) at exon 25 and c.8198A>C (p.Gln2733Pro) at exon 58. The role of the identified ATM gene mutations in the pathogenesis of Ataxia Telangiectasia and the coexisting cerebellar disorders is discussed. We report the case of a 6-year-old female patient with Ataxia Telangiectasia, an extremely rare condition, who developed in addition a left cerebellar astrocytoma and a right cerebellar infarction, considered as two independent events. Children with AT have an increased risk of developing cancer, but only few cases of glioma are reported and, at our knowledge, no other case of unrelated cerebellar glioma and cerebellar infarction in with the same AT patient have been described. The molecular analysis of ATM (Ataxia Telangiectasia Mutated) gene showed that the patient is compound heterozygote for two previously unreported mutations: c.3291delC (p.Phe1097fs) at exon 25 and c.8198A>C (p.Gln2733Pro) at exon 58. The role of the identified ATM gene mutations in the pathogenesis of Ataxia Telangiectasia and the coexisting cerebellar disorders is discussed. Molinaro, Anna oth Soresina, Annarosa oth Costa, Silvia oth Maffeis, Marianna oth Germani, Aldo oth Pinelli, Lorenzo oth Meschini, Roberta oth Plebani, Alessandro oth Chessa, Luciana oth Micheli, Roberto oth Enthalten in Elsevier Science Yuan, Meiling ELSEVIER A new global analytical potential energy surface of NaH 2018 official journal of the World Federation of Neurology Amsterdam [u.a.] (DE-627)ELV001315870 volume:371 year:2016 day:15 month:12 pages:48-53 extent:6 https://doi.org/10.1016/j.jns.2016.10.014 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 35.10 Physikalische Chemie: Allgemeines VZ AR 371 2016 15 1215 48-53 6 045F 610 |
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10.1016/j.jns.2016.10.014 doi GBVA2016022000024.pica (DE-627)ELV019882033 (ELSEVIER)S0022-510X(16)30644-X DE-627 ger DE-627 rakwb eng 610 610 DE-600 540 VZ 35.10 bkl Piane, Maria verfasserin aut Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders 2016transfer abstract 6 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier We report the case of a 6-year-old female patient with Ataxia Telangiectasia, an extremely rare condition, who developed in addition a left cerebellar astrocytoma and a right cerebellar infarction, considered as two independent events. Children with AT have an increased risk of developing cancer, but only few cases of glioma are reported and, at our knowledge, no other case of unrelated cerebellar glioma and cerebellar infarction in with the same AT patient have been described. The molecular analysis of ATM (Ataxia Telangiectasia Mutated) gene showed that the patient is compound heterozygote for two previously unreported mutations: c.3291delC (p.Phe1097fs) at exon 25 and c.8198A>C (p.Gln2733Pro) at exon 58. The role of the identified ATM gene mutations in the pathogenesis of Ataxia Telangiectasia and the coexisting cerebellar disorders is discussed. We report the case of a 6-year-old female patient with Ataxia Telangiectasia, an extremely rare condition, who developed in addition a left cerebellar astrocytoma and a right cerebellar infarction, considered as two independent events. Children with AT have an increased risk of developing cancer, but only few cases of glioma are reported and, at our knowledge, no other case of unrelated cerebellar glioma and cerebellar infarction in with the same AT patient have been described. The molecular analysis of ATM (Ataxia Telangiectasia Mutated) gene showed that the patient is compound heterozygote for two previously unreported mutations: c.3291delC (p.Phe1097fs) at exon 25 and c.8198A>C (p.Gln2733Pro) at exon 58. The role of the identified ATM gene mutations in the pathogenesis of Ataxia Telangiectasia and the coexisting cerebellar disorders is discussed. Molinaro, Anna oth Soresina, Annarosa oth Costa, Silvia oth Maffeis, Marianna oth Germani, Aldo oth Pinelli, Lorenzo oth Meschini, Roberta oth Plebani, Alessandro oth Chessa, Luciana oth Micheli, Roberto oth Enthalten in Elsevier Science Yuan, Meiling ELSEVIER A new global analytical potential energy surface of NaH 2018 official journal of the World Federation of Neurology Amsterdam [u.a.] (DE-627)ELV001315870 volume:371 year:2016 day:15 month:12 pages:48-53 extent:6 https://doi.org/10.1016/j.jns.2016.10.014 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 35.10 Physikalische Chemie: Allgemeines VZ AR 371 2016 15 1215 48-53 6 045F 610 |
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Piane, Maria @@aut@@ Molinaro, Anna @@oth@@ Soresina, Annarosa @@oth@@ Costa, Silvia @@oth@@ Maffeis, Marianna @@oth@@ Germani, Aldo @@oth@@ Pinelli, Lorenzo @@oth@@ Meschini, Roberta @@oth@@ Plebani, Alessandro @@oth@@ Chessa, Luciana @@oth@@ Micheli, Roberto @@oth@@ |
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novel compound heterozygous mutations in a child with ataxia-telangiectasia showing unrelated cerebellar disorders |
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Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders |
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We report the case of a 6-year-old female patient with Ataxia Telangiectasia, an extremely rare condition, who developed in addition a left cerebellar astrocytoma and a right cerebellar infarction, considered as two independent events. Children with AT have an increased risk of developing cancer, but only few cases of glioma are reported and, at our knowledge, no other case of unrelated cerebellar glioma and cerebellar infarction in with the same AT patient have been described. The molecular analysis of ATM (Ataxia Telangiectasia Mutated) gene showed that the patient is compound heterozygote for two previously unreported mutations: c.3291delC (p.Phe1097fs) at exon 25 and c.8198A>C (p.Gln2733Pro) at exon 58. The role of the identified ATM gene mutations in the pathogenesis of Ataxia Telangiectasia and the coexisting cerebellar disorders is discussed. |
| abstractGer |
We report the case of a 6-year-old female patient with Ataxia Telangiectasia, an extremely rare condition, who developed in addition a left cerebellar astrocytoma and a right cerebellar infarction, considered as two independent events. Children with AT have an increased risk of developing cancer, but only few cases of glioma are reported and, at our knowledge, no other case of unrelated cerebellar glioma and cerebellar infarction in with the same AT patient have been described. The molecular analysis of ATM (Ataxia Telangiectasia Mutated) gene showed that the patient is compound heterozygote for two previously unreported mutations: c.3291delC (p.Phe1097fs) at exon 25 and c.8198A>C (p.Gln2733Pro) at exon 58. The role of the identified ATM gene mutations in the pathogenesis of Ataxia Telangiectasia and the coexisting cerebellar disorders is discussed. |
| abstract_unstemmed |
We report the case of a 6-year-old female patient with Ataxia Telangiectasia, an extremely rare condition, who developed in addition a left cerebellar astrocytoma and a right cerebellar infarction, considered as two independent events. Children with AT have an increased risk of developing cancer, but only few cases of glioma are reported and, at our knowledge, no other case of unrelated cerebellar glioma and cerebellar infarction in with the same AT patient have been described. The molecular analysis of ATM (Ataxia Telangiectasia Mutated) gene showed that the patient is compound heterozygote for two previously unreported mutations: c.3291delC (p.Phe1097fs) at exon 25 and c.8198A>C (p.Gln2733Pro) at exon 58. The role of the identified ATM gene mutations in the pathogenesis of Ataxia Telangiectasia and the coexisting cerebellar disorders is discussed. |
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