Human Molecular Genetics, Vol 7, 149-154, Copyright © 1998 by Oxford University Press
B Burwinkel, S Shiomi, A Al Zaben and MW Kilimann
Mutations in three different genes of phosphorylase kinase (Phk) subunits,
PHKA2, PHKB and PHKG2, can give rise to glycogen storage disease of the
liver. The autosomal-recessive, liver-specific variant of Phk deficiency is
caused by mutations in the gene encoding the testis/liver isoform of the
catalytic gamma subunit, PHKG2. To facilitate mutation detection and to
improve our understanding of the molecular evolution of Phk subunit
isoforms, we have determined the structure of the human PHKG2 gene. The
gene extends over 9.5 kilonucleotides and is divided into 10 exons;
positions of introns are highly conserved between PHKG2 and the gene of the
muscle isoform of the gamma subunit, PHKG1. The beginning of intron 2
harbors a highly informative GGT/GT microsatellite repeat, the first
polymorphic marker in the PHKG2 gene at human chromosome 16p11.2-p12.1.
Employing the gene sequence, we have identified homozygous
translation-terminating mutations, 277delC and Arg44ter, in the two
published cases of liver Phk deficiency who developed cirrhosis in
childhood. As liver Phk deficiency is generally a benign condition and
progression to cirrhosis is very rare, this finding suggests that PHKG2
mutations are associated with an increased cirrhosis risk.
ARTICLES
Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis
Institut fur Physiologische Chemie, Medizinische Fakultat, Ruhr- Universit-at Bochum, D-44780 Bochum, Germany.
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  B. BURWINKEL, M S. TANNER, and M. W KILIMANN Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R) J. Med. Genet., May 1, 2000; 37(5): 376 - 377. [Full Text]
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