New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy
Abstract We report the clinical and biochemical findings from two unrelated patients who presented with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy. Whole exome sequencing (WES) uncovered a homozygous mutation in the ATP8A2 gene (NM_016529:c....
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Gespeichert in:
| Autor*in: |
Martín-Hernández, Elena [verfasserIn] Rodríguez-García, María Elena [verfasserIn] Camacho, Ana [verfasserIn] Matilla-Dueñas, Antoni [verfasserIn] García-Silva, María Teresa [verfasserIn] Quijada-Fraile, Pilar [verfasserIn] Corral-Juan, Marc [verfasserIn] Tejada-Palacios, Pilar [verfasserIn] de Las Heras, Rogelio Simón [verfasserIn] Arenas, Joaquín [verfasserIn] Martín, Miguel A. [verfasserIn] Martínez-Azorín, Francisco [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2016 |
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| Schlagwörter: |
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| Übergeordnetes Werk: |
Enthalten in: Neurogenetics - Springer-Verlag, 2001, 17(2016), 4 vom: 28. Sept., Seite 259-263 |
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| Übergeordnetes Werk: |
volume:17 ; year:2016 ; number:4 ; day:28 ; month:09 ; pages:259-263 |
| Links: |
|---|
| DOI / URN: |
10.1007/s10048-016-0496-y |
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| 520 | |a Abstract We report the clinical and biochemical findings from two unrelated patients who presented with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy. Whole exome sequencing (WES) uncovered a homozygous mutation in the ATP8A2 gene (NM_016529:c.1287G > T, p.K429N) in one patient and compound heterozygous mutations (c.1630G > C, p.A544P and c.1873C > T, p.R625W) in the other. Only one haploinsufficiency case and a family with a homozygous mutation in ATP8A2 gene (c.1128C > G, p.I376M) have been described so far, with phenotypes that differed slightly from the patients described herein. In conclusion, our data expand both the genetic and phenotypic spectrum associated with ATP8A2 gene mutations. | ||
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10.1007/s10048-016-0496-y doi (DE-627)SPR00823471X (SPR)s10048-016-0496-y-e DE-627 ger DE-627 rakwb eng Martín-Hernández, Elena verfasserin aut New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract We report the clinical and biochemical findings from two unrelated patients who presented with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy. Whole exome sequencing (WES) uncovered a homozygous mutation in the ATP8A2 gene (NM_016529:c.1287G > T, p.K429N) in one patient and compound heterozygous mutations (c.1630G > C, p.A544P and c.1873C > T, p.R625W) in the other. Only one haploinsufficiency case and a family with a homozygous mutation in ATP8A2 gene (c.1128C > G, p.I376M) have been described so far, with phenotypes that differed slightly from the patients described herein. In conclusion, our data expand both the genetic and phenotypic spectrum associated with ATP8A2 gene mutations. Wes (dpeaa)DE-He213 Encephalopathy (dpeaa)DE-He213 Severe hypotonia (dpeaa)DE-He213 Chorea (dpeaa)DE-He213 Optic atrophy (dpeaa)DE-He213 Rodríguez-García, María Elena verfasserin aut Camacho, Ana verfasserin aut Matilla-Dueñas, Antoni verfasserin aut García-Silva, María Teresa verfasserin aut Quijada-Fraile, Pilar verfasserin aut Corral-Juan, Marc verfasserin aut Tejada-Palacios, Pilar verfasserin aut de Las Heras, Rogelio Simón verfasserin aut Arenas, Joaquín verfasserin aut Martín, Miguel A. verfasserin aut Martínez-Azorín, Francisco verfasserin aut Enthalten in Neurogenetics Springer-Verlag, 2001 17(2016), 4 vom: 28. Sept., Seite 259-263 (DE-627)SPR00822823X nnns volume:17 year:2016 number:4 day:28 month:09 pages:259-263 https://dx.doi.org/10.1007/s10048-016-0496-y lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER AR 17 2016 4 28 09 259-263 |
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10.1007/s10048-016-0496-y doi (DE-627)SPR00823471X (SPR)s10048-016-0496-y-e DE-627 ger DE-627 rakwb eng Martín-Hernández, Elena verfasserin aut New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract We report the clinical and biochemical findings from two unrelated patients who presented with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy. Whole exome sequencing (WES) uncovered a homozygous mutation in the ATP8A2 gene (NM_016529:c.1287G > T, p.K429N) in one patient and compound heterozygous mutations (c.1630G > C, p.A544P and c.1873C > T, p.R625W) in the other. Only one haploinsufficiency case and a family with a homozygous mutation in ATP8A2 gene (c.1128C > G, p.I376M) have been described so far, with phenotypes that differed slightly from the patients described herein. In conclusion, our data expand both the genetic and phenotypic spectrum associated with ATP8A2 gene mutations. Wes (dpeaa)DE-He213 Encephalopathy (dpeaa)DE-He213 Severe hypotonia (dpeaa)DE-He213 Chorea (dpeaa)DE-He213 Optic atrophy (dpeaa)DE-He213 Rodríguez-García, María Elena verfasserin aut Camacho, Ana verfasserin aut Matilla-Dueñas, Antoni verfasserin aut García-Silva, María Teresa verfasserin aut Quijada-Fraile, Pilar verfasserin aut Corral-Juan, Marc verfasserin aut Tejada-Palacios, Pilar verfasserin aut de Las Heras, Rogelio Simón verfasserin aut Arenas, Joaquín verfasserin aut Martín, Miguel A. verfasserin aut Martínez-Azorín, Francisco verfasserin aut Enthalten in Neurogenetics Springer-Verlag, 2001 17(2016), 4 vom: 28. Sept., Seite 259-263 (DE-627)SPR00822823X nnns volume:17 year:2016 number:4 day:28 month:09 pages:259-263 https://dx.doi.org/10.1007/s10048-016-0496-y lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER AR 17 2016 4 28 09 259-263 |
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10.1007/s10048-016-0496-y doi (DE-627)SPR00823471X (SPR)s10048-016-0496-y-e DE-627 ger DE-627 rakwb eng Martín-Hernández, Elena verfasserin aut New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract We report the clinical and biochemical findings from two unrelated patients who presented with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy. Whole exome sequencing (WES) uncovered a homozygous mutation in the ATP8A2 gene (NM_016529:c.1287G > T, p.K429N) in one patient and compound heterozygous mutations (c.1630G > C, p.A544P and c.1873C > T, p.R625W) in the other. Only one haploinsufficiency case and a family with a homozygous mutation in ATP8A2 gene (c.1128C > G, p.I376M) have been described so far, with phenotypes that differed slightly from the patients described herein. In conclusion, our data expand both the genetic and phenotypic spectrum associated with ATP8A2 gene mutations. Wes (dpeaa)DE-He213 Encephalopathy (dpeaa)DE-He213 Severe hypotonia (dpeaa)DE-He213 Chorea (dpeaa)DE-He213 Optic atrophy (dpeaa)DE-He213 Rodríguez-García, María Elena verfasserin aut Camacho, Ana verfasserin aut Matilla-Dueñas, Antoni verfasserin aut García-Silva, María Teresa verfasserin aut Quijada-Fraile, Pilar verfasserin aut Corral-Juan, Marc verfasserin aut Tejada-Palacios, Pilar verfasserin aut de Las Heras, Rogelio Simón verfasserin aut Arenas, Joaquín verfasserin aut Martín, Miguel A. verfasserin aut Martínez-Azorín, Francisco verfasserin aut Enthalten in Neurogenetics Springer-Verlag, 2001 17(2016), 4 vom: 28. Sept., Seite 259-263 (DE-627)SPR00822823X nnns volume:17 year:2016 number:4 day:28 month:09 pages:259-263 https://dx.doi.org/10.1007/s10048-016-0496-y lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER AR 17 2016 4 28 09 259-263 |
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10.1007/s10048-016-0496-y doi (DE-627)SPR00823471X (SPR)s10048-016-0496-y-e DE-627 ger DE-627 rakwb eng Martín-Hernández, Elena verfasserin aut New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract We report the clinical and biochemical findings from two unrelated patients who presented with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy. Whole exome sequencing (WES) uncovered a homozygous mutation in the ATP8A2 gene (NM_016529:c.1287G > T, p.K429N) in one patient and compound heterozygous mutations (c.1630G > C, p.A544P and c.1873C > T, p.R625W) in the other. Only one haploinsufficiency case and a family with a homozygous mutation in ATP8A2 gene (c.1128C > G, p.I376M) have been described so far, with phenotypes that differed slightly from the patients described herein. In conclusion, our data expand both the genetic and phenotypic spectrum associated with ATP8A2 gene mutations. Wes (dpeaa)DE-He213 Encephalopathy (dpeaa)DE-He213 Severe hypotonia (dpeaa)DE-He213 Chorea (dpeaa)DE-He213 Optic atrophy (dpeaa)DE-He213 Rodríguez-García, María Elena verfasserin aut Camacho, Ana verfasserin aut Matilla-Dueñas, Antoni verfasserin aut García-Silva, María Teresa verfasserin aut Quijada-Fraile, Pilar verfasserin aut Corral-Juan, Marc verfasserin aut Tejada-Palacios, Pilar verfasserin aut de Las Heras, Rogelio Simón verfasserin aut Arenas, Joaquín verfasserin aut Martín, Miguel A. verfasserin aut Martínez-Azorín, Francisco verfasserin aut Enthalten in Neurogenetics Springer-Verlag, 2001 17(2016), 4 vom: 28. Sept., Seite 259-263 (DE-627)SPR00822823X nnns volume:17 year:2016 number:4 day:28 month:09 pages:259-263 https://dx.doi.org/10.1007/s10048-016-0496-y lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER AR 17 2016 4 28 09 259-263 |
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10.1007/s10048-016-0496-y doi (DE-627)SPR00823471X (SPR)s10048-016-0496-y-e DE-627 ger DE-627 rakwb eng Martín-Hernández, Elena verfasserin aut New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract We report the clinical and biochemical findings from two unrelated patients who presented with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy. Whole exome sequencing (WES) uncovered a homozygous mutation in the ATP8A2 gene (NM_016529:c.1287G > T, p.K429N) in one patient and compound heterozygous mutations (c.1630G > C, p.A544P and c.1873C > T, p.R625W) in the other. Only one haploinsufficiency case and a family with a homozygous mutation in ATP8A2 gene (c.1128C > G, p.I376M) have been described so far, with phenotypes that differed slightly from the patients described herein. In conclusion, our data expand both the genetic and phenotypic spectrum associated with ATP8A2 gene mutations. Wes (dpeaa)DE-He213 Encephalopathy (dpeaa)DE-He213 Severe hypotonia (dpeaa)DE-He213 Chorea (dpeaa)DE-He213 Optic atrophy (dpeaa)DE-He213 Rodríguez-García, María Elena verfasserin aut Camacho, Ana verfasserin aut Matilla-Dueñas, Antoni verfasserin aut García-Silva, María Teresa verfasserin aut Quijada-Fraile, Pilar verfasserin aut Corral-Juan, Marc verfasserin aut Tejada-Palacios, Pilar verfasserin aut de Las Heras, Rogelio Simón verfasserin aut Arenas, Joaquín verfasserin aut Martín, Miguel A. verfasserin aut Martínez-Azorín, Francisco verfasserin aut Enthalten in Neurogenetics Springer-Verlag, 2001 17(2016), 4 vom: 28. Sept., Seite 259-263 (DE-627)SPR00822823X nnns volume:17 year:2016 number:4 day:28 month:09 pages:259-263 https://dx.doi.org/10.1007/s10048-016-0496-y lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER AR 17 2016 4 28 09 259-263 |
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New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy Wes (dpeaa)DE-He213 Encephalopathy (dpeaa)DE-He213 Severe hypotonia (dpeaa)DE-He213 Chorea (dpeaa)DE-He213 Optic atrophy (dpeaa)DE-He213 |
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New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy |
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New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy |
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Martín-Hernández, Elena |
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2016 |
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Martín-Hernández, Elena Rodríguez-García, María Elena Camacho, Ana Matilla-Dueñas, Antoni García-Silva, María Teresa Quijada-Fraile, Pilar Corral-Juan, Marc Tejada-Palacios, Pilar de Las Heras, Rogelio Simón Arenas, Joaquín Martín, Miguel A. Martínez-Azorín, Francisco |
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Martín-Hernández, Elena |
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10.1007/s10048-016-0496-y |
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new atp8a2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy |
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New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy |
| abstract |
Abstract We report the clinical and biochemical findings from two unrelated patients who presented with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy. Whole exome sequencing (WES) uncovered a homozygous mutation in the ATP8A2 gene (NM_016529:c.1287G > T, p.K429N) in one patient and compound heterozygous mutations (c.1630G > C, p.A544P and c.1873C > T, p.R625W) in the other. Only one haploinsufficiency case and a family with a homozygous mutation in ATP8A2 gene (c.1128C > G, p.I376M) have been described so far, with phenotypes that differed slightly from the patients described herein. In conclusion, our data expand both the genetic and phenotypic spectrum associated with ATP8A2 gene mutations. |
| abstractGer |
Abstract We report the clinical and biochemical findings from two unrelated patients who presented with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy. Whole exome sequencing (WES) uncovered a homozygous mutation in the ATP8A2 gene (NM_016529:c.1287G > T, p.K429N) in one patient and compound heterozygous mutations (c.1630G > C, p.A544P and c.1873C > T, p.R625W) in the other. Only one haploinsufficiency case and a family with a homozygous mutation in ATP8A2 gene (c.1128C > G, p.I376M) have been described so far, with phenotypes that differed slightly from the patients described herein. In conclusion, our data expand both the genetic and phenotypic spectrum associated with ATP8A2 gene mutations. |
| abstract_unstemmed |
Abstract We report the clinical and biochemical findings from two unrelated patients who presented with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy. Whole exome sequencing (WES) uncovered a homozygous mutation in the ATP8A2 gene (NM_016529:c.1287G > T, p.K429N) in one patient and compound heterozygous mutations (c.1630G > C, p.A544P and c.1873C > T, p.R625W) in the other. Only one haploinsufficiency case and a family with a homozygous mutation in ATP8A2 gene (c.1128C > G, p.I376M) have been described so far, with phenotypes that differed slightly from the patients described herein. In conclusion, our data expand both the genetic and phenotypic spectrum associated with ATP8A2 gene mutations. |
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New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy |
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Rodríguez-García, María Elena Camacho, Ana Matilla-Dueñas, Antoni García-Silva, María Teresa Quijada-Fraile, Pilar Corral-Juan, Marc Tejada-Palacios, Pilar de Las Heras, Rogelio Simón Arenas, Joaquín Martín, Miguel A. Martínez-Azorín, Francisco |
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Rodríguez-García, María Elena Camacho, Ana Matilla-Dueñas, Antoni García-Silva, María Teresa Quijada-Fraile, Pilar Corral-Juan, Marc Tejada-Palacios, Pilar de Las Heras, Rogelio Simón Arenas, Joaquín Martín, Miguel A. Martínez-Azorín, Francisco |
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