title: Hereditary elliptocytosis associated with spectrin Le Puy in a Japanese family: ultrastructural aspect of the red cell skeleton.
abstract: A dominantly-inherited hereditary elliptocytosis of intermediate severity was recorded in a Japanese family from Yamagata. The condition was associated with a spectrin truncated beta-chain (MW: 214 kD; 31% of total beta-spectrin), and a defect of mutant spectrin as regards tetramerization and phosphorylation. cDNA analysis revealed skipping of exon X, the third-to-last exon of the spectrin beta-gene. At the gene level, a one-base substitution (A-->G) changed position +4 of the 5' donor splice site consensus sequence of intron X. This mutation has been described before in a French kindred, defining spectrin Le Puy. Electron micrographs following quick-freeze deep-etching showed that the skeletal network was disorganized.
authors.affiliation: CNRS URA 1171, Faculté de Médecine Grange-Blanche, Institut Pasteur de Lyon, France.
authors.forename: J
authors.initials: J
authors.lastname: Maréchal
authors.forename: H
authors.initials: H
authors.lastname: Wada
authors.forename: T
authors.initials: T
authors.lastname: Koffa
authors.forename: A
authors.initials: A
authors.lastname: Kanzaki
authors.forename: R
authors.initials: R
authors.lastname: Wilmotte
authors.forename: K
authors.initials: K
authors.lastname: Ikoma
authors.forename: A
authors.initials: A
authors.lastname: Yawata
authors.forename: T
authors.initials: T
authors.lastname: Inoue
authors.forename: K
authors.initials: K
authors.lastname: Takanashi
authors.forename: A
authors.initials: A
authors.lastname: Miura
mesh_terms: D001483:Base Sequence; D017931:DNA Primers / Q000737:chemistry; D004612:Elliptocytosis, Hereditary / Q000235:genetics / Q000473:pathology*; D004910:Erythrocyte Membrane / Q000648:ultrastructure*; D005260:Female; D005613:Freeze Etching; D015870:Gene Expression; D006801:Humans; D007564:Japan; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D012333:RNA, Messenger / Q000235:genetics; D013049:Spectrin / Q000235:genetics*
chemical_list: D017931:DNA Primers; D012333:RNA, Messenger; D013049:Spectrin