Compound heterozygous patient with glycogen storage disease type III: Identification of two novel AGL mutations, a donor splice site mutation of Chinese origin and a 1-bp deletion of Japanese origin

Minoru Okubo, Asako Horinishi, Yoichi Suzuki, Toshio Murase, Kiyoshi Hayasaka

Research output: Contribution to journalArticle

14 Citations (Scopus)

Abstract

Glycogen storage disease type III (GSD III) is an autosomal recessive disorder caused by deficiency of glycogen-debranching enzyme (AGL). We studied a 2-year-old GSD III patient whose parents were from different ethnic groups. Nucleotide sequence analysis of the patient showed two novel mutations: a single cytosine deletion at nucleotide 2399 (2399deIC) in exon 16, and a G-to-A transition at the +5 position at the donor splice site of intron 33 (IVS33+5G>A). Analysis of the mRNA produced by IVS33+5G>A showed aberrant splicing: skipping of exon 33 and activation of a cryptic splice site in exon 34. Mutational analysis of the family revealed that the 2399deIc was inherited from her father, who is of Japanese origin, and the IVS33+5G>A from her mother, who is of Chinese descent, establishing that the patient was a compound heterozygote. To our knowledge, this is the first report of a mutation identified in a GSD III patient from the Chinese population. (C) 2000 Wiley-Liss, Inc.

Original languageEnglish
Pages (from-to)211-214
Number of pages4
JournalAmerican journal of medical genetics
Volume93
Issue number3
DOIs
Publication statusPublished - 2000 Jun 12

Keywords

  • AGL
  • Chinese
  • Compound heterozygote
  • Debranching enzyme
  • Glycogen
  • Glycogen storage disease type III
  • Japanese

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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