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dc.contributor.author
Barrientos, Laura Soledad
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dc.contributor.author
Maiolini, Arianna
dc.contributor.author
Häni, Annakatrin
dc.contributor.author
Jagannathan, Vidhya
dc.contributor.author
Leeb, Tosso
dc.date.available
2021-01-07T02:47:02Z
dc.date.issued
2018-12-07
dc.identifier.citation
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
dc.identifier.issn
1365-2052
dc.identifier.uri
http://hdl.handle.net/11336/121691
dc.description.abstract
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.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Wiley Blackwell Publishing, Inc
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dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
LAFORA DISEASE
dc.subject
GENETIC VARIANT
dc.subject
NHLRC1
dc.subject
DOGS
dc.subject.classification
Otras Ciencias Veterinarias
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dc.subject.classification
Ciencias Veterinarias
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dc.subject.classification
CIENCIAS AGRÍCOLAS
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dc.title
NHLRC1 dodecamer repeat expansion demonstrated by whole genome sequencing in a Chihuahua with Lafora disease
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2020-11-18T16:18:37Z
dc.identifier.eissn
0268-9146
dc.journal.volume
50
dc.journal.number
1
dc.journal.pagination
118-119
dc.journal.pais
Reino Unido
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dc.journal.ciudad
LONDRES
dc.description.fil
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
dc.description.fil
Fil: Maiolini, Arianna. University of Bern; Suiza
dc.description.fil
Fil: Häni, Annakatrin. University of Bern; Suiza
dc.description.fil
Fil: Jagannathan, Vidhya. University of Bern; Suiza
dc.description.fil
Fil: Leeb, Tosso. University of Bern; Suiza
dc.journal.title
Animal Genetics
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dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1111/age.12756
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/abs/10.1111/age.12756
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