A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa

Jianjun Shen, Yong Bao, Yuan Tsong Chen

Research output: Contribution to journalArticle

28 Scopus citations

Abstract

Glycogen storage disease type III (GSD-III) is an autosomal recessive disease resulting from deficient glycogen debranching enzyme (GDE) activity. A child with GDE deficient in both liver and muscle (GSD-IIIa) had recurrent hypoglycemia, seizures, severe cardiomegaly, and hepatomegaly and died at 4 years of age. Analysis of the GDE gene in this child by single-strand conformation polymorphism, followed by direct DNA sequencing and restriction analysis, revealed an insertion of a nucleotide A into position 4529 of the GDE cDNA (4529insA). This insertion resulted in substitution of a tyrosine to a stop codon at amino acid 1510 (Y1510X). The 4529insA mutation appeared to be homozygous in this patient and was not found in 20 unrelated controls or 18 other GSD-III patients (14 GSD-IIIa and 4 GSD-IIIb). This is the first identification of a disease mutation in this gene, and the data suggest that homozygous 4529insA may be associated with a severe phenotype in GSD-IIIa.

Original languageEnglish (US)
Pages (from-to)37-40
Number of pages4
JournalHuman mutation
Volume9
Issue number1
DOIs
StatePublished - Jan 20 1997
Externally publishedYes

Keywords

  • deficient GDE activity
  • glycogen storage disease type III
  • homozygous 4529insA mutation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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