X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver α subunit of phosphorylase kinase

Human Molecular Genetics

Volumn 5, Issue 5, 1996, Pages 649-652

  Hendrickx, Jan ^a   Dams, Erna ^a   Coucke, Paul ^a   Lee, Philip ^b   Fernandes, John ^c   Willems, Patrick J ^a  

^a UNIVERSITY OF ANTWERP   (Belgium)

^b ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^c UNIVERSITY OF GRONINGEN   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHORYLASE KINASE;

AMINO ACID SEQUENCE; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DELETION MUTANT; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME PHOSPHORYLATION; ENZYME REGULATION; ENZYME STRUCTURE; ENZYME SUBUNIT; FEMALE; GENE INSERTION; GENE MUTATION; GLYCOGEN STORAGE DISEASE; GLYCOGEN STORAGE DISEASE TYPE 1; GLYCOGEN STORAGE DISEASE TYPE 2; GROWTH RETARDATION; HEPATOMEGALY; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; OPEN READING FRAME; PRIORITY JOURNAL; X CHROMOSOME LINKAGE;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CELL LINE; CHROMOSOME MAPPING; DNA; EXONS; GLYCOGEN STORAGE DISEASE; HUMANS; LINKAGE (GENETICS); LIVER; MICE; MOLECULAR SEQUENCE DATA; PEDIGREE; PHOSPHORYLASE KINASE; POINT MUTATION; POLYMERASE CHAIN REACTION; X CHROMOSOME;

EID: 0029947170     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (9)

1. Huijing, F. and Fernandes, J. (1969) X-chromosomal inheritance of liver glycogenosis with phosphorylase kinase deficiency. Am. J. Hum. Genet., 21, 275-284.
2. Willems, P.J., Hendrickx, J., Van der Auwera, B.J., Vits, L , Raeymaekers, P., Coucke, P.J., Van den Bergh, I., Berger, R., Smit, G.P A , Van Broeckhoven, C., Kilimann, M.W., Van Elsen, A. and Fernandes, J.F. (1991) Mapping of the gene for X-linked liver glycogenosis due to phosphorylase kinase deficiency to human chromosome region Xp22. Genomics, 9, 565-569.
3. Hendrickx, J., Coucke, P , Hors-Cayla, M-C., Smit, G.P.A., Smeitink, J., Berger, R., Lee, P , Shin, Y S., Deutsch, J., Fernandes, J. and Willems, P.J. (1994) Localization of a new type of X-linked liver glycogenosis to the chromosomal region Xp22 containing the liver α-subunit of phosphorylase kinase (PHKA2). Genomics, 21, 620-625.
4. Hendrickx, J., Coucke, P., Dams, E., Lee, P., Corbeel, L., Odièvre, M. Fernandes, J.F and Wiliems P.J. (1995) Mutations in a phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogenosis. Hum Mol. Genet., 4, 77-83
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6. Hendrickx, J. Coucke, P., Bossuyt, P., Wauters, J , Raeymaekers, P., Marchau, F., Smit, G.P.A., Stolte, I., Sardharwalla, I.B., Berthelot, J , Van den Bergh, I., Berger, R., Van Broeckhoven, C., Baussan, C., Wapenaar, M., Fernandes, J. and Willems, P.J. (1993) X-linked liver glycogenosis: localization and isolation of a candidate gene. Hum. Mol Genet., 2, 583-589.
7. Davidson, J.J., Özçelik, T., Hamacher, C., Willems, P.J., Francke, U. and Kilimann, M.W. (1992) cDNA encoding a liver isoform of the phosphorylase kinase α subunit: its structural gene maps to the locus of X-linked liver glycogenosis. Proc Natl Acad. Sci. USA, 89, 2096-2100.
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