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

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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.

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Annabi, B., Hiraiwa, H., Mansfield, B. C., Lei, K. J., Ubagai, T., Polymeropoulos, M. H., … Chou, J. Y. (1998). The gene for glycogen-storage disease type lb maps to chromosome 11q23. American Journal of Human Genetics, 62(2), 400–405. https://doi.org/10.1086/301727

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