title: A single-base deletion in the 3'-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients.
abstract: Glycogen storage disease type III (GSD III) is an autosomal recessive disease caused by the deficiency of glycogen-debranching enzyme (AGL). The overall incidence of the disease is about 1:100,000 life births in the USA; however, it is unusually frequent among North African Jews in Israel (prevalence 1:5,400, carrier prevalence 1:35). All North African Jewish GSD III patients examined have both liver and muscle involvement. While all patients showed the characteristic features related to the liver enzyme deficiency, the peripheral muscular impairment varied from minimal to severe, with neuromuscular involvement. A single mutation in the AGL gene, the deletion of T at position 4,455 (4,455delT) in homozygous form, was found in this patient population. The mutation 4,455delT results in the change of 17 amino acids at the carboxy terminus of the AGL protein (1,486-1,502) and truncation of the last 30 amino acids of the normal AGL 1,532 amino acids. The mutation appears to be ethnic specific as it was not seen in 18 patients of different ethnic origins. This is the first report of a mutation in the AGL gene affecting a considerable number of GSD III patients in a defined population.
authors.affiliation: Genetics Institute, Soroka Medical Center, Ben-Gurion University, Faculty of Health Sciences, Beer-Sheva, Israel. ruthi@bguvms.bgu.ac.il
authors.forename: R
authors.initials: R
authors.lastname: Parvari
authors.forename: S
authors.initials: S
authors.lastname: Moses
authors.forename: J
authors.initials: J
authors.lastname: Shen
authors.forename: E
authors.initials: E
authors.lastname: Hershkovitz
authors.forename: A
authors.initials: A
authors.lastname: Lerner
authors.forename: Y T
authors.initials: YT
authors.lastname: Chen
mesh_terms: D000328:Adult; D000352:Africa, Northern / Q000208:ethnology; D004252:DNA Mutational Analysis; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D006004:Glycogen Debranching Enzyme System / Q000235:genetics*; D006009:Glycogen Storage Disease Type II / Q000201:enzymology / Q000208:ethnology* / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007585:Jews / Q000235:genetics*; D008297:Male; D012150:Polymorphism, Restriction Fragment Length; D018807:Polymorphism, Single-Stranded Conformational; D017384:Sequence Deletion / Q000235:genetics
chemical_list: D006004:Glycogen Debranching Enzyme System