title: Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease.
abstract: Phosphorylase kinase (PHK) is a key enzyme in the control of glycogen breakdown. Several types of PHK deficiency have been described of which X-linked liver glycogenosis type I (XLG I) is the most common. Since the XLG I locus and the gene encoding the liver alpha-subunit gene of PHK (PHKA2) have both been localized to Xp22, PHKA2 was a candidate gene for XLG I. In this study we identified four point mutations in four unrelated XLG I patients: three mutations introduce a premature stop codon, whereas the fourth mutation abolishes a splice site consensus sequence leading to exon skipping. These findings indicate that PHKA2 is the XLG I gene.
authors.affiliation: Department of Medical Genetics, University of Antwerp, Belgium.
authors.forename: J
authors.initials: J
authors.lastname: Hendrickx
authors.forename: P
authors.initials: P
authors.lastname: Coucke
authors.forename: E
authors.initials: E
authors.lastname: Dams
authors.forename: P
authors.initials: P
authors.lastname: Lee
authors.forename: M
authors.initials: M
authors.lastname: Odièvre
authors.forename: L
authors.initials: L
authors.lastname: Corbeel
authors.forename: J F
authors.initials: JF
authors.lastname: Fernandes
authors.forename: P J
authors.initials: PJ
authors.lastname: Willems
mesh_terms: D001483:Base Sequence; D018388:Codon, Terminator; D004252:DNA Mutational Analysis; D017931:DNA Primers; D005091:Exons; D005260:Female; D008040:Genetic Linkage; D006008:Glycogen Storage Disease / Q000235:genetics*; D006801:Humans; D007438:Introns; D008112:Liver Glycogen / Q000378:metabolism*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010764:Phosphorylase Kinase / Q000235:genetics*; D012326:RNA Splicing; D014960:X Chromosome
chemical_list: D018388:Codon, Terminator; D017931:DNA Primers; D008112:Liver Glycogen; D010764:Phosphorylase Kinase