title: Mutant GTP cyclohydrolase I mRNA levels contribute to dopa-responsive dystonia onset.
abstract: We present a new Japanese family with hereditary progressive dystonia with marked diurnal fluctuation/dopa-responsive dystonia. The affected daughter and her asymptomatic father are heterozygous for a novel missense mutation that replaces His by Pro at codon 144 in the GTP cyclohydrolase I gene. Quantitative reverse transcription-polymerase chain reaction revealed a higher ratio of mutant/normal mRNA encoding GTP cyclohydrolase I in the patient. These results demonstrate the importance of mutant mRNA levels for phenotypic variability among cases with the same mutation.
authors.affiliation: Department of Medical Genetics, Nara Medical University, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Hirano
authors.forename: Y
authors.initials: Y
authors.lastname: Tamaru
authors.forename: H
authors.initials: H
authors.lastname: Ito
authors.forename: S
authors.initials: S
authors.lastname: Matsumoto
authors.forename: T
authors.initials: T
authors.lastname: Imai
authors.forename: S
authors.initials: S
authors.lastname: Ueno
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D002940:Circadian Rhythm; D004421:Dystonia / Q000188:drug therapy* / Q000235:genetics* / Q000503:physiopathology; D005091:Exons; D005260:Female; D006136:GTP Cyclohydrolase / Q000096:biosynthesis / Q000235:genetics*; D006639:Histidine; D006801:Humans; D007438:Introns; D007564:Japan; D007980:Levodopa / Q000627:therapeutic use*; D008297:Male; D009679:Nuclear Family; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011392:Proline; D012333:RNA, Messenger / Q000096:biosynthesis
chemical_list: D012333:RNA, Messenger; D007980:Levodopa; D006639:Histidine; D011392:Proline; D006136:GTP Cyclohydrolase