Study of a Taiwanese family with oculopharyngeal muscular dystrophy

Hung Chou Kuo*, Chiung Mei Chen, Guey Jen Lee-Chen, Fen Ju Hu, Chun Che Chu, Chia Wei Liou, Chin Chang Huang

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

9 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)21-24
Number of pages4
JournalJournal of the Neurological Sciences
Issue number1-2
Publication statusPublished - 2009 Mar 15


  • Molecular genetic analysis
  • Oculopharyngeal muscular dystrophy
  • PABPN1
  • Polyalanine expansion
  • Taiwanese
  • Unequal cross-over

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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