title: A novel nonsense mutation of the GTP cyclohydrolase I gene in a family with dopa-responsive dystonia.
abstract: We report a new nonsense mutation in the GTP cyclohydrolase I (GCH1) gene in a family with dopa-responsive dystonia. Two sisters and three children of the sisters are affected. The exons of the GCH1 gene were amplified by PCR and sequenced. The substitution of thymine for cytosine at nucleotide position 142 causing a nonsense mutation (Q48X) in exon 1 was identified in all of the five affected patients. There were three asymptomatic carriers of the mutation in the family.
authors.affiliation: Department of Biochemistry, Wonkwang University College of Medicine, Iksan, Korea. kmhong@wonkwang.ac.kr
authors.forename: K M
authors.initials: KM
authors.lastname: Hong
authors.forename: Y S
authors.initials: YS
authors.lastname: Kim
authors.forename: M K
authors.initials: MK
authors.lastname: Paik
mesh_terms: D002648:Child; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D004421:Dystonia / Q000188:drug therapy / Q000201:enzymology / Q000235:genetics*; D005091:Exons; D005260:Female; D006136:GTP Cyclohydrolase / Q000235:genetics*; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use; D008297:Male; D010375:Pedigree; D016133:Polymerase Chain Reaction
chemical_list: D018389:Codon, Nonsense; D007980:Levodopa; D006136:GTP Cyclohydrolase