title: Identification of an expanded CAG repeat in the Huntington's disease gene (IT15) in a family reported to have benign hereditary chorea.
abstract: Benign hereditary chorea (BHC) is a rare autosomal dominant disorder characterised by the onset of non-progressive chorea in childhood and the absence of cognitive impairment. Using primers flanking the (CAG)n repeat in IT15, expansion of which is associated with HD, we have detected an abnormal PCR product in four affected members from one family where affected subjects were originally reported to have BHC. The expanded allele contains 38 repeats in the affected parent and this undergoes further enlargement to 39 and 45 repeats in the two affected offspring. We conclude that the diagnostic criteria for BHC should include a normal result from analysis for the (CAG)n expansion identified in HD.
authors.affiliation: Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK.
authors.forename: J C
authors.initials: JC
authors.lastname: MacMillan
authors.forename: P J
authors.initials: PJ
authors.lastname: Morrison
authors.forename: N C
authors.initials: NC
authors.lastname: Nevin
authors.forename: D J
authors.initials: DJ
authors.lastname: Shaw
authors.forename: P S
authors.initials: PS
authors.lastname: Harper
authors.forename: O W
authors.initials: OW
authors.lastname: Quarrell
authors.forename: R G
authors.initials: RG
authors.lastname: Snell
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D002819:Chorea / Q000175:diagnosis / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009838:Oligodeoxyribonucleotides / Q000235:genetics; D010375:Pedigree; D012091:Repetitive Sequences, Nucleic Acid
chemical_list: D009838:Oligodeoxyribonucleotides