title: Identification of Alu-mediated, large deletion-spanning introns 19-26 in PHKA2 in a patient with X-linked liver glycogenosis (hepatic phosphorylase kinase deficiency).
abstract: X-linked liver glycogenosis (XLG) is one of the most common glycogen storage diseases. We present the first case of a large PHKA2 gene deletion from intron 19 to intron 26 in an XLG patient. An aberrant cDNA with skipping of exons 20-26 was detected. Alu element-mediated unequal homologous recombination between an Alu-Jo in intron 19 and another Alu-Sg in intron 26 appears to be responsible for this deletion.
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu 501-1194, Japan.
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Fukao
authors.forename: Gaixiu
authors.initials: G
authors.lastname: Zhang
authors.forename: Yusuke
authors.initials: Y
authors.lastname: Aoki
authors.forename: Takahiro
authors.initials: T
authors.lastname: Arai
authors.forename: Takahide
authors.initials: T
authors.lastname: Teramoto
authors.forename: Hideo
authors.initials: H
authors.lastname: Kaneko
authors.forename: Hideo
authors.initials: H
authors.lastname: Sugie
authors.forename: Naomi
authors.initials: N
authors.lastname: Kondo
mesh_terms: D020087:Alu Elements / Q000235:genetics*; D001483:Base Sequence; D041321:Chromosomes, Human, X; D005091:Exons / Q000235:genetics; D050172:Genes, X-Linked / Q000235:genetics*; D008040:Genetic Linkage; D006015:Glycogen Storage Disease Type VIII / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007438:Introns / Q000235:genetics*; D008099:Liver / Q000201:enzymology / Q000473:pathology; D008297:Male; D008969:Molecular Sequence Data; D010764:Phosphorylase Kinase / Q000172:deficiency / Q000235:genetics*; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion; D012689:Sequence Homology, Nucleic Acid
chemical_list: D010764:Phosphorylase Kinase