title: Novel mutations in African American patients with glycogen storage disease Type II. Mutations in brief no. 209. Online.
abstract: The infantile form of GSD II (an inherited deficiency of the lysosomal enzyme, acid alpha-glucosidase, Pompe disease) is a severe and invariably fatal disease characterized by a rapidly progressive generalized hypotonia, hepatomegaly, and cardiomegaly. We have recently demonstrated that African American patients share a common nonsense R854X mutation in exon 18 (Becker et al., 1998). Two other mutations, D645E and M519V, have been identified in individual African American patients (Hermans et al., 1993a; Huie et al., 1994a). We describe here three novel mutations in this population group: a missense W481R in exon 10, a deletion of a T1441 in exon 10, and a splicing defect at the 5' donor site of intron 8 (IVS g+la) . The splicing defect is shared by two unrelated patients and it is linked to intragenic polymorphic sites identical to those found in patients bearing the common R854X mutation.
authors: Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892, USA.
authors: N
authors: N
authors: Raben
authors: E
authors: E
authors: Lee
authors: L
authors: L
authors: Lee
authors: R
authors: R
authors: Hirschhorn
authors: P H
authors: PH
authors: Plotz
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics; D044383:Black People / Q000235:genetics*; D006009:Glycogen Storage Disease Type II / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D001741:Black or African American