title: A GCG expansion (GCG)₁₁ in polyadenylate-binding protein nuclear 1 gene caused oculopharyngeal muscular dystrophy in a Chinese family.
abstract: OBJECTIVE
  To identify the mutation in polyadenylate-binding protein nuclear 1 gene (PABPN1, previously termed PABP2) in a Chinese family with autosomal, dominantly inherited oculopharyngeal muscular dystrophy (OPMD).
  
  
  METHODS
  Clinical and ophthalmologic examinations were conducted on available living family members from three generations. Genomic DNA was extracted from peripheral blood leukocytes of every available family member, and the fragment flanking the (GCG)(n) of the PABPN1 gene was amplified by PCR. Mutations were screened by DNA sequencing. Photographs of deceased family members were examined for signs of OPMD.
  
  
  RESULTS
  Clinical features of OPMD were found in all patients in generation II except the youngest sister, and no clinical manifestations were found in generation III. Mutation sequencing demonstrated that (GCG)₆ in the wild PABPN1 gene was expanded to heterozygous (GCG)₁₁ in all affected family members and in some but not all unaffected members.
  
  
  CONCLUSIONS
  In a Chinese family with autosomal dominantly inherited OPMD, a heterozygous (GCG)₁₁ expansion was identified in all affected family members and in several young unaffected members.
authors.affiliation: Department of Ophthalmology, the 2nd Affiliated Hospital of Zhejiang University, College of Medicine, Hangzhou, Zhejiang, China. yejuan@zju.edu.cn
authors.forename: Juan
authors.initials: J
authors.lastname: Ye
authors.forename: Huina
authors.initials: H
authors.lastname: Zhang
authors.forename: Yandan
authors.initials: Y
authors.lastname: Zhou
authors.forename: Han
authors.initials: H
authors.lastname: Wu
authors.forename: Changjun
authors.initials: C
authors.lastname: Wang
authors.forename: Xin
authors.initials: X
authors.lastname: Shi
mesh_terms: D000328:Adult; D002681:China; D004247:DNA / Q000032:analysis / Q000737:chemistry; D005123:Eye / Q000378:metabolism / Q000473:pathology*; D005260:Female; D005799:Genes, Dominant; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D039141:Muscular Dystrophy, Oculopharyngeal / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D010375:Pedigree; D011061:Poly A / Q000378:metabolism; D039103:Poly(A)-Binding Protein II / Q000235:genetics; D011485:Protein Binding / Q000235:genetics; D017422:Sequence Analysis, DNA; D019680:Trinucleotide Repeat Expansion
chemical_list: D039103:Poly(A)-Binding Protein II; D011061:Poly A; D004247:DNA