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2009-07-08Zeitschriftenartikel DOI: 10.1515/CCLM.2009.281
Egyptian glycogen storage disease type III – identification of six novel AGL mutations, including a large 1.5 kb deletion and a missense mutation p.L620P with subtype IIId
dc.contributor.authorEndo, Yoriko
dc.contributor.authorFateen, Ekram
dc.contributor.authorAoyama, Yoshiko
dc.contributor.authorEbara, Tetsu
dc.contributor.authorMurase, Toshio
dc.contributor.authorPodskarbi, Teodor
dc.contributor.authorShin, Yoon S.
dc.contributor.authorOkubo, Minoru
dc.date.accessioned2017-06-17T02:43:10Z
dc.date.available2017-06-17T02:43:10Z
dc.date.created2010-07-01
dc.date.issued2009-07-08
dc.identifier.issn1437-4331
dc.identifier.urihttp://edoc.hu-berlin.de/18452/10589
dc.description.abstractBackground: Glycogen storage disease type III (GSD III) is caused by mutations in AGL which encodes for a single protein with two enzyme activities: oligo-1, 4-1, 4-glucantransferase (transferase) and amylo-1, 6-glucosidase. Activity of both enzymes is lost in most patients with GSD III, but in the very rare subtype IIId, transferase activity is deficient. Since the spectrum of AGL mutations is dependent on the ethnic group, we investigated the clinical and molecular characteristics in Egyptian patients with GSD III. Methods: Clinical features were examined in five Egyptian patients. AGL was sequenced and AGL haplotypes were determined. Results: Six novel AGL mutations were identified: a large deletion (c.3481–3588+1417del1525 bp), two insertions (c.1389insG and c.2368insA), two small deletions (c.2223–2224delGT and c.4041delT), and a missense mutation (p.L620P). p.L620P was found in a patient with IIId. Each mutation was located on a different AGL haplotype. Conclusions: Our results suggest that there is allelic and phenotypic heterogeneity of GSD III in Egypt. This is the second description of a large deletion in AGL. p.L620P is the second mutation found in GSD IIId. Clin Chem Lab Med 2009;47:1233–8.eng
dc.language.isound
dc.publisherKooperation de Gruyter
dc.rights.urihttp://rightsstatements.org/vocab/InC/1.0/
dc.titleEgyptian glycogen storage disease type III – identification of six novel AGL mutations, including a large 1.5 kb deletion and a missense mutation p.L620P with subtype IIId
dc.typearticle
dc.identifier.urnurn:nbn:de:kobv:11-100119754
dc.identifier.doi10.1515/CCLM.2009.281
dc.identifier.doihttp://dx.doi.org/10.18452/9937
local.edoc.container-titleClinical Chemistry and Laboratory Medicine
local.edoc.type-nameZeitschriftenartikel
local.edoc.container-typeperiodical
local.edoc.container-type-nameZeitschrift
local.edoc.container-publisher-namede Gruyter
local.edoc.container-volume47
local.edoc.container-issue10
local.edoc.container-year2009
local.edoc.container-firstpage1233
local.edoc.container-lastpage1238
dc.description.versionPeer Reviewed

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