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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.

Publication ,  Journal Article
Parvari, R; Moses, S; Shen, J; Hershkovitz, E; Lerner, A; Chen, YT
Published in: Eur J Hum Genet
1997

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.

Duke Scholars

Published In

Eur J Hum Genet

ISSN

1018-4813

Publication Date

1997

Volume

5

Issue

5

Start / End Page

266 / 270

Location

England

Related Subject Headings

  • Sequence Deletion
  • Polymorphism, Single-Stranded Conformational
  • Polymorphism, Restriction Fragment Length
  • Male
  • Jews
  • Humans
  • Homozygote
  • Glycogen Storage Disease Type II
  • Glycogen Debranching Enzyme System
  • Genetics & Heredity
 

Published In

Eur J Hum Genet

ISSN

1018-4813

Publication Date

1997

Volume

5

Issue

5

Start / End Page

266 / 270

Location

England

Related Subject Headings

  • Sequence Deletion
  • Polymorphism, Single-Stranded Conformational
  • Polymorphism, Restriction Fragment Length
  • Male
  • Jews
  • Humans
  • Homozygote
  • Glycogen Storage Disease Type II
  • Glycogen Debranching Enzyme System
  • Genetics & Heredity