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Selected Publication:
Hendrickx, J; Coucke, P; Hors-Cayla, MC; Smit, GP; Shin, YS; Deutsch, J; Smeitink, J; Berger, R; Lee, P; Fernandes, J.
Localization of a new type of X-linked liver glycogenosis to the chromosomal region Xp22 containing the liver alpha-subunit of phosphorylase kinase (PHKA2).
GENOMICS. 1994; 21(3): 620-625.
Doi: 10.1006%2Fgeno.1994.1322
(- Case Report)
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- Co-authors Med Uni Graz
- Deutsch Johann
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- Abstract:
- We describe here a new type of X-linked liver glycogen storage disease. The main symptoms include liver enlargement and growth retardation. The clinical and biochemical abnormalities of this glycogenosis are similar to those of classical X-linked liver glycogenosis due to phosphorylase kinase deficiency (XLG). However, in contrast to patients with XLG, the patients described here have no reduced phosphorylase kinase activity in erythrocytes and leukocytes, and no enzyme deficiency could be found. Linkage analysis of four families with this X-linked type of liver glycogenosis assigned the disease gene to Xp22. Lod scores obtained with the markers DXS987, DXS207, and DXS999 were 3.97, 2.71, and 2.40, respectively, all at 0% recombination. Multipoint linkage analysis localized the disease gene between DXS143 and DXS989 with a maximum lod score of 4.70 at theta = 0, relative to DXS987. As both the classical XLG gene and the liver alpha-subunit of PHK (PHKA2) are also located in Xp22, this variant type of XLG may be allelic to classical XLG, and both diseases may be caused by mutations in PHKA2. Therefore, we propose to classify XLG as XLG type I (the classical type of XLG) and XLG type II (the variant type of XLG).
- Find related publications in this database (using NLM MeSH Indexing)
- Adolescent -
- Adult -
- Blotting, Southern -
- Child -
- Child, Preschool -
- Erythrocytes - enzymology
- Female - enzymology
- Genes, Recessive - enzymology
- Genetic Markers - enzymology
- Glycogen Storage Disease - enzymology
- Heterozygote Detection - enzymology
- Humans - enzymology
- Leukocytes - enzymology
- Linkage (Genetics) - enzymology
- Liver - enzymology
- Macromolecular Substances - enzymology
- Male - enzymology
- Pedigree - enzymology
- Phosphorylase Kinase - deficiency
- Polymerase Chain Reaction - deficiency
- X Chromosome - deficiency