File Download

There are no files associated with this item.

  Links for fulltext
     (May Require Subscription)
Supplementary

Article: Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy

TitleMutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy
Authors
Issue Date1998
PublisherNature Publishing Group. The Journal's web site is located at http://www.genetics.nature.com
Citation
Nature Genetics, 1998, v. 20 n. 2, p. 171-174 How to Cite?
Abstract
Lafora's disease (LD; OMIM 254780) is an autosomal recessive form of progressive myoclonus epilepsy characterized by seizures and cumulative neurological deterioration. Onset occurs during late childhood and usually results in death within ten years of the first symptoms1,2. With few exceptions, patients follow a homogeneous clinical course despite the existence of genetic heterogeneity3. Biopsy of various tissues, including brain, revealed characteristic polyglucosan inclusions called Lafora bodies4-8, which suggested LD might be a generalized storage disease6,9. Using a positional cloning approach, we have identified at chromosome 6q24 a novel gene, EPM2A, that encodes a protein with consensus amino acid sequence indicative of a protein tyrosine phosphatase (PTP). mRNA transcripts representing alternatively spliced forms of EPM2A were found in every tissue examined, including brain. Six distinct DNA sequence variations in EPM2A in nine families, and one homozygous microdeletion in another family, have been found to cosegregate with LD. These mutations are predicted to cause deleterious effects in the putative protein product, named laforin, resulting in LD.
Persistent Identifierhttp://hdl.handle.net/10722/44343
ISSN
2013 Impact Factor: 29.648
2013 SCImago Journal Rankings: 24.052
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorMinassian, BAen_HK
dc.contributor.authorLee Jeffrey, Ren_HK
dc.contributor.authorHerbrick, JAen_HK
dc.contributor.authorHuizenga, Jen_HK
dc.contributor.authorSoder, Sen_HK
dc.contributor.authorMungall, AJen_HK
dc.contributor.authorDunham, Ien_HK
dc.contributor.authorGardner, Ren_HK
dc.contributor.authorFong, CYGen_HK
dc.contributor.authorCarpenter, Sen_HK
dc.contributor.authorJardim, Len_HK
dc.contributor.authorSatishchandra, Pen_HK
dc.contributor.authorAndermann, Een_HK
dc.contributor.authorCarter Snead III, Oen_HK
dc.contributor.authorLopesCendes, Ien_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorDelgadoEscueta, AVen_HK
dc.contributor.authorRouleau, GAen_HK
dc.contributor.authorScherer, SWen_HK
dc.date.accessioned2007-09-12T03:51:47Z-
dc.date.available2007-09-12T03:51:47Z-
dc.date.issued1998en_HK
dc.identifier.citationNature Genetics, 1998, v. 20 n. 2, p. 171-174en_HK
dc.identifier.issn1061-4036en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44343-
dc.description.abstractLafora's disease (LD; OMIM 254780) is an autosomal recessive form of progressive myoclonus epilepsy characterized by seizures and cumulative neurological deterioration. Onset occurs during late childhood and usually results in death within ten years of the first symptoms1,2. With few exceptions, patients follow a homogeneous clinical course despite the existence of genetic heterogeneity3. Biopsy of various tissues, including brain, revealed characteristic polyglucosan inclusions called Lafora bodies4-8, which suggested LD might be a generalized storage disease6,9. Using a positional cloning approach, we have identified at chromosome 6q24 a novel gene, EPM2A, that encodes a protein with consensus amino acid sequence indicative of a protein tyrosine phosphatase (PTP). mRNA transcripts representing alternatively spliced forms of EPM2A were found in every tissue examined, including brain. Six distinct DNA sequence variations in EPM2A in nine families, and one homozygous microdeletion in another family, have been found to cosegregate with LD. These mutations are predicted to cause deleterious effects in the putative protein product, named laforin, resulting in LD.en_HK
dc.languageengen_HK
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.genetics.nature.comen_HK
dc.relation.ispartofNature Geneticsen_HK
dc.subject.meshChromosomes, human, pair 6en_HK
dc.subject.meshEpilepsies, myoclonic - enzymology - geneticsen_HK
dc.subject.meshMutationen_HK
dc.subject.meshProtein-tyrosine-phosphatase - geneticsen_HK
dc.subject.meshRna, messenger - metabolismen_HK
dc.titleMutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsyen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1061-4036&volume=20&issue=2&spage=171&epage=174&date=1998&atitle=Mutations+in+a+gene+encoding+a+novel+protein+tyrosine+phosphatase+cause+progressive+myoclonus+epilepsyen_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.natureabstracten_HK
dc.identifier.doi10.1038/2470en_HK
dc.identifier.pmid9771710en_HK
dc.identifier.scopuseid_2-s2.0-17344362307en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-17344362307&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume20en_HK
dc.identifier.issue2en_HK
dc.identifier.spage171en_HK
dc.identifier.epage174en_HK
dc.identifier.isiWOS:000076231300019-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridMinassian, BA=7004098060en_HK
dc.identifier.scopusauthoridLee Jeffrey, R=20634832900en_HK
dc.identifier.scopusauthoridHerbrick, JA=6602297751en_HK
dc.identifier.scopusauthoridHuizenga, J=7005960086en_HK
dc.identifier.scopusauthoridSoder, S=6602121375en_HK
dc.identifier.scopusauthoridMungall, AJ=7004571024en_HK
dc.identifier.scopusauthoridDunham, I=7005382935en_HK
dc.identifier.scopusauthoridGardner, R=7401523685en_HK
dc.identifier.scopusauthoridFong, CYG=36812154700en_HK
dc.identifier.scopusauthoridCarpenter, S=7203028843en_HK
dc.identifier.scopusauthoridJardim, L=7003635829en_HK
dc.identifier.scopusauthoridSatishchandra, P=7003764957en_HK
dc.identifier.scopusauthoridAndermann, E=7005057351en_HK
dc.identifier.scopusauthoridCarter Snead III, O=10539809100en_HK
dc.identifier.scopusauthoridLopesCendes, I=7003572956en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridDelgadoEscueta, AV=7007017561en_HK
dc.identifier.scopusauthoridRouleau, GA=36042364200en_HK
dc.identifier.scopusauthoridScherer, SW=35374654500en_HK
dc.identifier.citeulike3892052-

Export via OAI-PMH Interface in XML Formats


OR


Export to Other Non-XML Formats