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Novel mutations in African American patients with glycogen storage disease type II by Nina Raben; Eunice Lee; Laura Lee; Rochelle Hirschhorn; Paul H. Plotz is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is Novel mutations in African American patients with glycogen storage disease type II about?

The infantile form of GSD II (an inherited deficiency of the lysosomal enzyme, acid α αglucosidase, 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+1a). 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.

Who reads Novel mutations in African American patients with glycogen storage disease type II?

Author

Nina Raben; Eunice Lee; Laura Lee; Rochelle Hirschhorn; Paul H. Plotz

Publisher

Hindawi Limited

Published

1999

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)