NHLRC1 dodecamer repeat expansion demonstrated by whole genome sequencing in a Chihuahua with Lafora disease
- Autores
- Barrientos, Laura Soledad; Maiolini, Arianna; Häni, Annakatrin; Jagannathan, Vidhya; Leeb, Tosso
- Año de publicación
- 2018
- Idioma
- inglés
- Tipo de recurso
- artículo
- Estado
- versión publicada
- Descripción
- Lafora disease is an autosomal recessive disor-der that causes myoclonic epilepsy.The disease is char-acterized by the presence of polyglucosan inclusion bodies (Lafora bodies), predominantly in the central nervous sys-tem. More than 90% of human Lafora disease cases arecaused by genetic variants in eitherEPM2A, encodinglaforin glucan phosphatase, orNHLRC1,encoding the NHLrepeat containing E3 ubiquitin protein ligase 1, also termedEPM2B or malin. Lafora disease in animals has similarclinical signs as the human disease, including spontaneousand reflex myoclonus, jerks and generalized tonic clonic sei-zures. Lafora disease has been reported in the dog, cat, cow and fennec fox.In dogs, Lafora disease is one of themost commonly recognized structural-metabolic epilepsiesand is inherited as an autosomal recessive condition. It ismost frequent in Miniature Wirehaired Dachshunds, BassetHounds and Beagles and has also been reported in theMiniature and Standard Poodle, Pointer and Corgi. Asingle disease-causing variant has been found in dogs. It consists of a massive expansion of a GC-rich dodecamerrepeat sequence in the canineNHLRC1gene, leading to lossof function of the gene. The wild type allele of this repeatconsists of two copies of a 12-bp motif in most mammalianspecies. In normal dogs and other canids two or threecopies are present. The pathogenic alleles leading to Laforadisease in dogs were reported to contain 14-26 copies ofthis repeat.2Genetic testing and carrier detection are notroutinely available, as the extremely GC-rich dodecamerrepeat expansion impedes PCR-based diagnostic approaches.Currently, a Southern-blot-based test is offered by theHospital for Sick Children in Toronto and represents an offi-cial DNA screening test recommended by the UK KennelClub.
Fil: Barrientos, Laura Soledad. University of Bern; Suiza. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico CONICET- La Plata. Instituto de Genética Veterinaria "Ing. Fernando Noel Dulout". Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias. Instituto de Genética Veterinaria; Argentina
Fil: Maiolini, Arianna. University of Bern; Suiza
Fil: Häni, Annakatrin. University of Bern; Suiza
Fil: Jagannathan, Vidhya. University of Bern; Suiza
Fil: Leeb, Tosso. University of Bern; Suiza - Materia
-
LAFORA DISEASE
GENETIC VARIANT
NHLRC1
DOGS - Nivel de accesibilidad
- acceso abierto
- Condiciones de uso
- https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
- Repositorio
- Institución
- Consejo Nacional de Investigaciones Científicas y Técnicas
- OAI Identificador
- oai:ri.conicet.gov.ar:11336/121691
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CONICET Digital (CONICET) |
spelling |
NHLRC1 dodecamer repeat expansion demonstrated by whole genome sequencing in a Chihuahua with Lafora diseaseBarrientos, Laura SoledadMaiolini, AriannaHäni, AnnakatrinJagannathan, VidhyaLeeb, TossoLAFORA DISEASEGENETIC VARIANTNHLRC1DOGShttps://purl.org/becyt/ford/4.3https://purl.org/becyt/ford/4Lafora disease is an autosomal recessive disor-der that causes myoclonic epilepsy.The disease is char-acterized by the presence of polyglucosan inclusion bodies (Lafora bodies), predominantly in the central nervous sys-tem. More than 90% of human Lafora disease cases arecaused by genetic variants in eitherEPM2A, encodinglaforin glucan phosphatase, orNHLRC1,encoding the NHLrepeat containing E3 ubiquitin protein ligase 1, also termedEPM2B or malin. Lafora disease in animals has similarclinical signs as the human disease, including spontaneousand reflex myoclonus, jerks and generalized tonic clonic sei-zures. Lafora disease has been reported in the dog, cat, cow and fennec fox.In dogs, Lafora disease is one of themost commonly recognized structural-metabolic epilepsiesand is inherited as an autosomal recessive condition. It ismost frequent in Miniature Wirehaired Dachshunds, BassetHounds and Beagles and has also been reported in theMiniature and Standard Poodle, Pointer and Corgi. Asingle disease-causing variant has been found in dogs. It consists of a massive expansion of a GC-rich dodecamerrepeat sequence in the canineNHLRC1gene, leading to lossof function of the gene. The wild type allele of this repeatconsists of two copies of a 12-bp motif in most mammalianspecies. In normal dogs and other canids two or threecopies are present. The pathogenic alleles leading to Laforadisease in dogs were reported to contain 14-26 copies ofthis repeat.2Genetic testing and carrier detection are notroutinely available, as the extremely GC-rich dodecamerrepeat expansion impedes PCR-based diagnostic approaches.Currently, a Southern-blot-based test is offered by theHospital for Sick Children in Toronto and represents an offi-cial DNA screening test recommended by the UK KennelClub.Fil: Barrientos, Laura Soledad. University of Bern; Suiza. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico CONICET- La Plata. Instituto de Genética Veterinaria "Ing. Fernando Noel Dulout". Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias. Instituto de Genética Veterinaria; ArgentinaFil: Maiolini, Arianna. University of Bern; SuizaFil: Häni, Annakatrin. University of Bern; SuizaFil: Jagannathan, Vidhya. University of Bern; SuizaFil: Leeb, Tosso. University of Bern; SuizaWiley Blackwell Publishing, Inc2018-12-07info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/121691Barrientos, Laura Soledad; Maiolini, Arianna; Häni, Annakatrin; Jagannathan, Vidhya; Leeb, Tosso; NHLRC1 dodecamer repeat expansion demonstrated by whole genome sequencing in a Chihuahua with Lafora disease; Wiley Blackwell Publishing, Inc; Animal Genetics; 50; 1; 7-12-2018; 118-1191365-20520268-9146CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.1111/age.12756info:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/abs/10.1111/age.12756info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T09:39:29Zoai:ri.conicet.gov.ar:11336/121691instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-29 09:39:29.571CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse |
dc.title.none.fl_str_mv |
NHLRC1 dodecamer repeat expansion demonstrated by whole genome sequencing in a Chihuahua with Lafora disease |
title |
NHLRC1 dodecamer repeat expansion demonstrated by whole genome sequencing in a Chihuahua with Lafora disease |
spellingShingle |
NHLRC1 dodecamer repeat expansion demonstrated by whole genome sequencing in a Chihuahua with Lafora disease Barrientos, Laura Soledad LAFORA DISEASE GENETIC VARIANT NHLRC1 DOGS |
title_short |
NHLRC1 dodecamer repeat expansion demonstrated by whole genome sequencing in a Chihuahua with Lafora disease |
title_full |
NHLRC1 dodecamer repeat expansion demonstrated by whole genome sequencing in a Chihuahua with Lafora disease |
title_fullStr |
NHLRC1 dodecamer repeat expansion demonstrated by whole genome sequencing in a Chihuahua with Lafora disease |
title_full_unstemmed |
NHLRC1 dodecamer repeat expansion demonstrated by whole genome sequencing in a Chihuahua with Lafora disease |
title_sort |
NHLRC1 dodecamer repeat expansion demonstrated by whole genome sequencing in a Chihuahua with Lafora disease |
dc.creator.none.fl_str_mv |
Barrientos, Laura Soledad Maiolini, Arianna Häni, Annakatrin Jagannathan, Vidhya Leeb, Tosso |
author |
Barrientos, Laura Soledad |
author_facet |
Barrientos, Laura Soledad Maiolini, Arianna Häni, Annakatrin Jagannathan, Vidhya Leeb, Tosso |
author_role |
author |
author2 |
Maiolini, Arianna Häni, Annakatrin Jagannathan, Vidhya Leeb, Tosso |
author2_role |
author author author author |
dc.subject.none.fl_str_mv |
LAFORA DISEASE GENETIC VARIANT NHLRC1 DOGS |
topic |
LAFORA DISEASE GENETIC VARIANT NHLRC1 DOGS |
purl_subject.fl_str_mv |
https://purl.org/becyt/ford/4.3 https://purl.org/becyt/ford/4 |
dc.description.none.fl_txt_mv |
Lafora disease is an autosomal recessive disor-der that causes myoclonic epilepsy.The disease is char-acterized by the presence of polyglucosan inclusion bodies (Lafora bodies), predominantly in the central nervous sys-tem. More than 90% of human Lafora disease cases arecaused by genetic variants in eitherEPM2A, encodinglaforin glucan phosphatase, orNHLRC1,encoding the NHLrepeat containing E3 ubiquitin protein ligase 1, also termedEPM2B or malin. Lafora disease in animals has similarclinical signs as the human disease, including spontaneousand reflex myoclonus, jerks and generalized tonic clonic sei-zures. Lafora disease has been reported in the dog, cat, cow and fennec fox.In dogs, Lafora disease is one of themost commonly recognized structural-metabolic epilepsiesand is inherited as an autosomal recessive condition. It ismost frequent in Miniature Wirehaired Dachshunds, BassetHounds and Beagles and has also been reported in theMiniature and Standard Poodle, Pointer and Corgi. Asingle disease-causing variant has been found in dogs. It consists of a massive expansion of a GC-rich dodecamerrepeat sequence in the canineNHLRC1gene, leading to lossof function of the gene. The wild type allele of this repeatconsists of two copies of a 12-bp motif in most mammalianspecies. In normal dogs and other canids two or threecopies are present. The pathogenic alleles leading to Laforadisease in dogs were reported to contain 14-26 copies ofthis repeat.2Genetic testing and carrier detection are notroutinely available, as the extremely GC-rich dodecamerrepeat expansion impedes PCR-based diagnostic approaches.Currently, a Southern-blot-based test is offered by theHospital for Sick Children in Toronto and represents an offi-cial DNA screening test recommended by the UK KennelClub. Fil: Barrientos, Laura Soledad. University of Bern; Suiza. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico CONICET- La Plata. Instituto de Genética Veterinaria "Ing. Fernando Noel Dulout". Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias. Instituto de Genética Veterinaria; Argentina Fil: Maiolini, Arianna. University of Bern; Suiza Fil: Häni, Annakatrin. University of Bern; Suiza Fil: Jagannathan, Vidhya. University of Bern; Suiza Fil: Leeb, Tosso. University of Bern; Suiza |
description |
Lafora disease is an autosomal recessive disor-der that causes myoclonic epilepsy.The disease is char-acterized by the presence of polyglucosan inclusion bodies (Lafora bodies), predominantly in the central nervous sys-tem. More than 90% of human Lafora disease cases arecaused by genetic variants in eitherEPM2A, encodinglaforin glucan phosphatase, orNHLRC1,encoding the NHLrepeat containing E3 ubiquitin protein ligase 1, also termedEPM2B or malin. Lafora disease in animals has similarclinical signs as the human disease, including spontaneousand reflex myoclonus, jerks and generalized tonic clonic sei-zures. Lafora disease has been reported in the dog, cat, cow and fennec fox.In dogs, Lafora disease is one of themost commonly recognized structural-metabolic epilepsiesand is inherited as an autosomal recessive condition. It ismost frequent in Miniature Wirehaired Dachshunds, BassetHounds and Beagles and has also been reported in theMiniature and Standard Poodle, Pointer and Corgi. Asingle disease-causing variant has been found in dogs. It consists of a massive expansion of a GC-rich dodecamerrepeat sequence in the canineNHLRC1gene, leading to lossof function of the gene. The wild type allele of this repeatconsists of two copies of a 12-bp motif in most mammalianspecies. In normal dogs and other canids two or threecopies are present. The pathogenic alleles leading to Laforadisease in dogs were reported to contain 14-26 copies ofthis repeat.2Genetic testing and carrier detection are notroutinely available, as the extremely GC-rich dodecamerrepeat expansion impedes PCR-based diagnostic approaches.Currently, a Southern-blot-based test is offered by theHospital for Sick Children in Toronto and represents an offi-cial DNA screening test recommended by the UK KennelClub. |
publishDate |
2018 |
dc.date.none.fl_str_mv |
2018-12-07 |
dc.type.none.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion http://purl.org/coar/resource_type/c_6501 info:ar-repo/semantics/articulo |
format |
article |
status_str |
publishedVersion |
dc.identifier.none.fl_str_mv |
http://hdl.handle.net/11336/121691 Barrientos, Laura Soledad; Maiolini, Arianna; Häni, Annakatrin; Jagannathan, Vidhya; Leeb, Tosso; NHLRC1 dodecamer repeat expansion demonstrated by whole genome sequencing in a Chihuahua with Lafora disease; Wiley Blackwell Publishing, Inc; Animal Genetics; 50; 1; 7-12-2018; 118-119 1365-2052 0268-9146 CONICET Digital CONICET |
url |
http://hdl.handle.net/11336/121691 |
identifier_str_mv |
Barrientos, Laura Soledad; Maiolini, Arianna; Häni, Annakatrin; Jagannathan, Vidhya; Leeb, Tosso; NHLRC1 dodecamer repeat expansion demonstrated by whole genome sequencing in a Chihuahua with Lafora disease; Wiley Blackwell Publishing, Inc; Animal Genetics; 50; 1; 7-12-2018; 118-119 1365-2052 0268-9146 CONICET Digital CONICET |
dc.language.none.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
info:eu-repo/semantics/altIdentifier/doi/10.1111/age.12756 info:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/abs/10.1111/age.12756 |
dc.rights.none.fl_str_mv |
info:eu-repo/semantics/openAccess https://creativecommons.org/licenses/by-nc-sa/2.5/ar/ |
eu_rights_str_mv |
openAccess |
rights_invalid_str_mv |
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/ |
dc.format.none.fl_str_mv |
application/pdf application/pdf |
dc.publisher.none.fl_str_mv |
Wiley Blackwell Publishing, Inc |
publisher.none.fl_str_mv |
Wiley Blackwell Publishing, Inc |
dc.source.none.fl_str_mv |
reponame:CONICET Digital (CONICET) instname:Consejo Nacional de Investigaciones Científicas y Técnicas |
reponame_str |
CONICET Digital (CONICET) |
collection |
CONICET Digital (CONICET) |
instname_str |
Consejo Nacional de Investigaciones Científicas y Técnicas |
repository.name.fl_str_mv |
CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas |
repository.mail.fl_str_mv |
dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar |
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1844613249088094208 |
score |
13.070432 |