title: Study of a Taiwanese family with oculopharyngeal muscular dystrophy.
abstract: BACKGROUND
  Oculopharyngeal muscular dystrophy (OPMD) is a late onset autosomal dominant muscle disorder. OPMD is caused by a short trinucleotide repeat expansion encoding an expanded polyalanine tract in the polyadenylate binding-protein nuclear 1 (PABPN1) gene. We identified and characterized a PABPN1 mutation in a Taiwanese family with OPMD.
  
  
  METHODS
  The phenotypic and genotypic characteristics of all subjects were evaluated in a Taiwanese OPMD family. Genetic alterations in the PABPN1 gene were identified using PCR and DNA sequencing.
  
  
  RESULTS
  Ten subjects with OPMD (6 symptomatic and 4 asymptomatic) within the Taiwanese family carried a novel mutation in the PABPN1 gene. The normal (GCG)6(GCA)3GCG sequence was replaced by (GCG)6(GCA)(GCG)4(GCA)3GCG due to an insertion of (GCG)4GCA into the normal allele in the Taiwanese OPMD subjects.
  
  
  CONCLUSIONS
  In contrast to a single GCG expansion in most of OPMD patients in the literature, an insertion of (GCG)4GCA in the PABPN1 gene was found in the Taiwanese OPMD subjects. The identification of this mutation appears to support the molecular mechanism of unequal cross-over of two PABPN1 alleles.
authors.affiliation: Department of Neurology, Chang Gung Memorial Hospital and College of Medicine, Chang Gung University, Taipei, Taiwan. kuo0426@adm.cgmh.org.tw
authors.forename: Hung-Chou
authors.initials: HC
authors.lastname: Kuo
authors.forename: Chiung-Mei
authors.initials: CM
authors.lastname: Chen
authors.forename: Guey-Jen
authors.initials: GJ
authors.lastname: Lee-Chen
authors.forename: Fen-Ju
authors.initials: FJ
authors.lastname: Hu
authors.forename: Chun-Che
authors.initials: CC
authors.lastname: Chu
authors.forename: Chia-Wei
authors.initials: CW
authors.lastname: Liou
authors.forename: Chin-Chang
authors.initials: CC
authors.lastname: Huang
mesh_terms: D000328:Adult; D000368:Aged; D004252:DNA Mutational Analysis; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D039141:Muscular Dystrophy, Oculopharyngeal / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D039103:Poly(A)-Binding Protein II / Q000235:genetics*; D013624:Taiwan; D019680:Trinucleotide Repeat Expansion
chemical_list: D039103:Poly(A)-Binding Protein II