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Homozygous deletion of exon 18 leads to degradation of the lysosomal α‐glucosidase precursor and to the infantile form of glycogen storage disease type II
Author(s) -
Ausems Margreet G. E. M.,
Kroos Marian A.,
Kraan Magna,
Smeitink Jan A. M.,
Kleijer Wim J.,
Amstel Hans Kristian Ploos,
Reuser Arnold J. J.
Publication year - 1996
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1996.tb03801.x
Subject(s) - endoplasmic reticulum , exon , glycogen storage disease , golgi apparatus , glycogen , lysosomal storage disease , phenotype , biology , endocrinology , gene , glucosidases , medicine , enzyme , microbiology and biotechnology , biochemistry , chemistry
We describe two unrelated Dutch patients with typical symptoms of infantile glycogen storage disease type II (GSD II) and virtual absence of acid α‐glucosidase activity in leukocytes and cultured skin fibroblasts. The patients were identified as homozygotes for a deletion of exon 18 of the acid α‐glucosidase gene (GAA). The in‐frame deletion manifests at the protein level in a characteristic way: the enzyme precursor is smaller than normal and degraded in the endoplasmic reticulum or Golgi complex. These cases present an evident example of a genotype‐phenotype correlation in glycogen storage disease type II.