The gene for glycogen-storage disease type lb maps to chromosome 11q23

Borhane Annabi, Hisayuki Hiraiwa, Brian C. Mansfield, Ke Jian Lei, Tsuneyuki Ubagai, Mihael H. Polymeropoulos, Shimon W. Moses, Ruti Parvari, Eli Hershkovitz, Hanna Mandel, Moshe Fryman, Janice Yang Chou

Research output: Contribution to journalArticlepeer-review

107 Scopus citations

Abstract

Glycogen-storage disease type 1 (GSD-1), also known as 'von Gierke disease,' is caused by a deficiency in microsomal glucose-6-phosphatase (G6Pase) activity. There are four distinct subgroups of this autosomal recessive disorder: 1a, 1b, 1c, and 1d. All share the same clinical manifestations, which are caused by abnormalities in the metabolism of glucose-6-phosphate (G6P). However, only GSD-1b patients suffer infectious complications, which are due to both the heritable neutropenia and the functional deficiencies of neutrophils and monocytes. Whereas G6Pase deficiency in GSD-1a patients arises from mutations in the G6Pase gene, this gene is normal in GSD-1b patients, indicating a separate locus for the disorder in the 1b subgroup. We now report the linkage of the GSD-1b locus to genetic markers spanning a 3-cM region on chromosome 11q23. Eventual molecular characterization of this disease will provide new insights into the genetic bases of G6P metabolism and neutrophil-monocyte dysfunction.

Original languageEnglish
Pages (from-to)400-405
Number of pages6
JournalAmerican Journal of Human Genetics
Volume62
Issue number2
DOIs
StatePublished - 1 Jan 1998

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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