Publication
Title
Localization of a new-type of x-linked liver glycogenosis to the chromosomal region xp22 containing the liver alpha-subunit of phosphorylase-kinase (phka2)
Author
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 MG gene and the liver Lu-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). (C) 1994 Academic Press, Inc.
Language
English
Source (journal)
Genomics: international journal of gene mapping and nucleotide sequencing. - San Diego, Calif.
Publication
San Diego, Calif. : 1994
ISSN
0888-7543
Volume/pages
21:3, p. 620-625
ISI
A1994NT13500020
Full text (Publisher's DOI)
UAntwerpen
Publication type
Subject
External links
Web of Science
Record
Identification
Creation 29.02.2012
Last edited 11.09.2017