title: New GAA mutations in Japanese patients with GSDII (Pompe disease).
abstract: Glycogen storage disease type II (Pompe disease) is inherited by autosomal recessive transmission and caused by a deficiency of acid alpha-glucosidase (GAA), resulting in impaired degradation and lysosomal accumulation of glycogen. The GAA gene, responsible for this disease, has been mapped to chromosome 17q25.2-25.3. To date, more than 70 disease-causing mutations have been identified. In this study, we present four mutations found in three Japanese patients with the juvenile form of glycogen storage disease type II; three of these mutations were new (R224W, S619R, and R660H). The pathogenicity of these new mutations was verified by the loss of function of the mutant enzymes expressed in COS cells.
authors.affiliation: Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Yonago, Japan.
authors.forename: Judy R
authors.initials: JR
authors.lastname: Pipo
authors.forename: Jian-Hua
authors.initials: JH
authors.lastname: Feng
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Yamamoto
authors.forename: Yuki
authors.initials: Y
authors.lastname: Ohsaki
authors.forename: Eiji
authors.initials: E
authors.lastname: Nanba
authors.forename: Seiichi
authors.initials: S
authors.lastname: Tsujino
authors.forename: Norio
authors.initials: N
authors.lastname: Sakuragawa
authors.forename: Frank
authors.initials: F
authors.lastname: Martiniuk
authors.forename: Haruaki
authors.initials: H
authors.lastname: Ninomiya
authors.forename: Akira
authors.initials: A
authors.lastname: Oka
authors.forename: Kousaku
authors.initials: K
authors.lastname: Ohno
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics*; D002675:Child, Preschool; D005091:Exons / Q000235:genetics; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics; D000520:alpha-Glucosidases / Q000235:genetics*
chemical_list: D000520:alpha-Glucosidases