title: Identification of a small deletion in one allele of patients with infantile form of glycogen storage disease type II.
abstract: Glycogen storage disease type II (GSD II, Pompe's disease) is an autosomal recessive inherited disease caused by the deficiency of acid alpha-D-glucosidase. In this paper we report two unrelated Chinese patients with infantile form of GSD II who had compound heterozygotes containing a small deletion in one of the acid alpha-D-glucosidase alleles. In both of these compound heterozygotes, one allele contains the C1935A transversion which is the most common mutation in Chinese patients and the other allele contains the newly identified 4 nt deletion of coding sequence (deletion nt 1411-1414). This small deletion causes a reading frameshift and translational premature termination signal in exon 9.
authors.affiliation: Graduate Institute of Microbiology and Immunology, National Yang-Ming University, Taipei, Taiwan, Republic of China.
authors.forename: J J
authors.initials: JJ
authors.lastname: Shieh
authors.forename: C Y
authors.initials: CY
authors.lastname: Lin
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D002681:China; D003001:Cloning, Molecular; D017931:DNA Primers; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D006009:Glycogen Storage Disease Type II / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D010443:Peptide Chain Termination, Translational; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D017384:Sequence Deletion; D000520:alpha-Glucosidases / Q000096:biosynthesis / Q000235:genetics*
chemical_list: D017931:DNA Primers; D000520:alpha-Glucosidases