Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease

• Published in: Human molecular genetics Vol. 4; no. 1; p. 77
• Main Authors: Hendrickx, J, Coucke, P, Dams, E, Lee, P, Odièvre, M, Corbeel, L, Fernandes, J F, Willems, P J
• Format: Journal Article
• Language: English
• Published: England 01-01-1995
• Subjects: Base Sequence; Codon, Terminator; DNA Mutational Analysis; DNA Primers; Exons; Female; Genetic Linkage; Glycogen Storage Disease - genetics; Humans; Introns; Liver Glycogen - metabolism; Male; Molecular Sequence Data; Mutation; Phosphorylase Kinase - genetics; RNA Splicing; X Chromosome
• ISSN: 0964-6906
• DOI: 10.1093/hmg/4.1.77

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.