title: Mutational analysis of the AGL gene: five novel mutations in GSD III patients.
abstract: Total or partial lack of glycogen debranching enzyme (GDE or AGL, amylo-1,6-glucosidase, 4-alpha-glucanotransferase) is responsible for Glycogen Storage Disease type III (GSDIII), a rare autosomal recessive disorder of glycogen metabolism. The clinical and biochemical features of GSDIII subjects are quite heterogeneous, and this mirrors the genotype-phenotype heterogeneity among patients. In this paper, we report the molecular characterisation of five unrelated subjects, four Italian and one Tunisian. The following new mutations are described and confirm the genetic heterogeneity of this disease: p.R864X, p.R428K, c.3911 insA, p.G1087R and c.3512_3549dup+c.3512_3519del. The functional relevance of these mutations is discussed on the basis of the recently acquired knowledge about the boundaries and structures of the two catalytic domains.
authors.affiliation: Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, I.R.C.C.S. Policlinico, Milan, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Lucchiari
authors.forename: M A
authors.initials: MA
authors.lastname: Donati
authors.forename: D
authors.initials: D
authors.lastname: Melis
authors.forename: M
authors.initials: M
authors.lastname: Filocamo
authors.forename: R
authors.initials: R
authors.lastname: Parini
authors.forename: N
authors.initials: N
authors.lastname: Bresolin
authors.forename: G P
authors.initials: GP
authors.lastname: Comi
mesh_terms: D000328:Adult; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D006004:Glycogen Debranching Enzyme System / Q000235:genetics*; D006010:Glycogen Storage Disease Type III / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation
chemical_list: D006004:Glycogen Debranching Enzyme System; C020569:4 alpha-glucanotransferase; C030563:amylo-1,6-glucosidase