A single-base deletion in the 3'-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients

Ruti Parvari, Shimon Moses, Jianjun Shen, Eli Hershkovitz, Aaron Lerner, Yuan Tsong Chen

Research output: Contribution to journalArticlepeer-review

53 Scopus citations

Abstract

Glycogen storage disease type III (GSD III) is an autosomal recessive disease caused by the deficiency of glycogen-debranching enzyme (AGL). The overall incidence of the disease is about 1:100,000 life births in the USA; however, it is unusually frequent among North African Jews in Israel (prevalence 1:5,400, carrier prevalence 1:35). All North African Jewish GSD III patients examined have both liver and muscle involvement. While all patients showed the characteristic features related to the liver enzyme deficiency, the peripheral muscular impairment varied from minimal to severe, with neuromuscular involvement. A single mutation in the AGL gene, the deletion of T at position 4,455 (4,455delT) in homozygous form, was found in this patient population. The mutation 4,455delT results in the change of 17 amino acids at the carboxy terminus of the AGL protein (1,486- 1,502) and truncation of the last 30 amino acids of the normal AGL 1,532 amino acids. The mutation appears to be ethnic specific as it was not seen in 18 patients of different ethnic origins. This is the first report of a mutation in the AGL gene affecting a considerable number of GSD III patients in a defined population.

Original languageEnglish
Pages (from-to)266-270
Number of pages5
JournalEuropean Journal of Human Genetics
Volume5
Issue number5
DOIs
StatePublished - 1 Jan 1997
Externally publishedYes

Keywords

  • Genotype-phenotype correlation
  • Glycogen storage disease type IIIa
  • Glycogen-debranching enzyme
  • Homozygous 4,455delT mutation

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