{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,13]],"date-time":"2025-12-13T23:02:27Z","timestamp":1765666947180},"reference-count":26,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2011,11,23]],"date-time":"2011-11-23T00:00:00Z","timestamp":1322006400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2012,12]]},"abstract":"<jats:p>Mili A, Ben Charfeddine I, Amara A, Mama\u00cf O, Adala L, Ben Lazereg T, Bougulia J, Saad A, Limem K, Gribaa M. A c.3216_3217delGA mutation in <jats:italic>AGL<\/jats:italic> gene in Tunisian patients with a glycogen storage disease type III: evidence of a founder effect.<\/jats:p><jats:p>Glycogen storage disease type III (GSD III) is an autosomal recessive disorder characterized by excessive accumulation of abnormal glycogen in the liver and muscles and caused by deficiency in the glycogen debranching enzyme, the amylo\u20101,6\u2010glucosidase (AGL). In this study, we report the clinical, biochemical and genotyping features of five unrelated GSD III patients coming from the same region in Tunisia. The concentration of erythrocyte glycogen and AGL activity were measured by colorimetric and fluorimetric methods, respectively. Four CA\/TG microsatellite markers flanking the <jats:italic>AGL<\/jats:italic> gene in chromosome 1 were amplified with fluoresceinated primers. The full coding exons and their relevant exon\u2013intron boundaries of the <jats:italic>AGL<\/jats:italic> gene were directly sequenced for the patients and their parents. All patients showed a striking increase of erythrocytes glycogen content. No AGL activity was detected in peripheral leukocytes. Sequencing of the <jats:italic>AGL<\/jats:italic> gene identified a c.3216_3217delGA (p.Glu1072AspfsX36) mutation in the five patients which leads to a premature termination, abolishing the AGL activity. Haplotype analysis showed that the mutation was associated with a common homozygote haplotype. Our results suggested the existence of a founder effect responsible for GSD III in this region of Tunisia.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2011.01806.x","type":"journal-article","created":{"date-parts":[[2011,10,28]],"date-time":"2011-10-28T20:21:37Z","timestamp":1319833297000},"page":"534-539","source":"Crossref","is-referenced-by-count":6,"title":["A c.3216_3217delGA mutation in <i>AGL<\/i> gene in Tunisian patients with a glycogen storage disease type III: evidence of a founder effect"],"prefix":"10.1111","volume":"82","author":[{"given":"A","family":"Mili","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I","family":"Ben Charfeddine","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Amara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O","family":"Mama\u00ef","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Adala","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T","family":"Ben Lazreg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Bouguila","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Saad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K","family":"Limem","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Gribaa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,11,23]]},"reference":[{"key":"e_1_2_8_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.spen.2006.06.007"},{"key":"e_1_2_8_3_2","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1996.0611"},{"key":"e_1_2_8_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-1119(97)00291-6"},{"key":"e_1_2_8_5_2","doi-asserted-by":"publisher","DOI":"10.2174\/1566524024605752"},{"key":"e_1_2_8_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(199912)14:6<542::AID-HUMU15>3.0.CO;2-0"},{"key":"e_1_2_8_7_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI118799"},{"key":"e_1_2_8_8_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050646"},{"key":"e_1_2_8_9_2","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1159\/000484776","article-title":"A single\u2010base deletion in the 3\u2032\u2010coding region of glycogen\u2010debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients.","volume":"5","author":"Parvari R","year":"1997","journal-title":"Eur J Hum Genet"},{"key":"e_1_2_8_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200632"},{"key":"e_1_2_8_11_2","doi-asserted-by":"publisher","DOI":"10.1007\/s100380200000"},{"key":"e_1_2_8_12_2","first-page":"72","article-title":"Clinical, biochemical and genetic features of glycogen debranching enzyme deficiency.","volume":"26","author":"Lucchiari S","year":"2007","journal-title":"Acta Myol"},{"key":"e_1_2_8_13_2","first-page":"49","article-title":"Enzymatic study of glycogenosis.","volume":"22","author":"Hers HG.","year":"1964","journal-title":"Ann Biol Clin (Paris)"},{"key":"e_1_2_8_14_2","first-page":"506","article-title":"The glycogenoses. 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