title: Mutational analyses in four Japanese families with X-linked liver phosphorylase kinase deficiency type 1.
abstract: We analysed the gene of the human alpha-subunit of liver phosphorylase kinase (PHKA2) in four Japanese families with X-linked liver phosphorylase kinase deficiency type 1 by RT-PCR followed by PCR-single-strand conformation polymorphism and direct DNA sequencing. In this study, two novel mutations (Y116D and 2675A-->G) and one mutation previously reported (P1205L) were identified, revealing molecular heterogeneity in Japanese patients. Considering the dissimilarity in phenotype among our patients even with an identical mutation in the PHKA2 gene, it seems that each genetic deficiency in this gene may not be the only factor to determine the clinical heterogeneity in this disease.
authors.affiliation: Department of Pediatrics, Akita University School of Medicine, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Hirono
authors.forename: Y
authors.initials: Y
authors.lastname: Shoji
authors.forename: T
authors.initials: T
authors.lastname: Takahashi
authors.forename: W
authors.initials: W
authors.lastname: Sato
authors.forename: E
authors.initials: E
authors.lastname: Takeda
authors.forename: T
authors.initials: T
authors.lastname: Nishijo
authors.forename: Y
authors.initials: Y
authors.lastname: Kuroda
authors.forename: T
authors.initials: T
authors.lastname: Nishigaki
authors.forename: K
authors.initials: K
authors.lastname: Inui
authors.forename: G
authors.initials: G
authors.lastname: Takada
mesh_terms: D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000737:chemistry; D004252:DNA Mutational Analysis; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D007564:Japan; D008099:Liver / Q000201:enzymology*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010764:Phosphorylase Kinase / Q000172:deficiency* / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D014960:X Chromosome
chemical_list: D004247:DNA; D010764:Phosphorylase Kinase