Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13.

Journal Article (Journal Article)

Oculopharyngeal muscular dystrophy is a late-onset, autosomally dominant disorder characterized by progressive ptosis, dysphagia, and extremity weakness. Linkage of oculopharyngeal muscular dystrophy to 14q11.2-q13 has been reported in a series of French Canadian families. Haplotype analysis in these data shows a single segregating disease chromosome, suggesting a founder effect in this population. We ascertained and sampled for linkage studies 5 multigenerational American families with oculopharyngeal muscular dystrophy. Four of the 5 families have known French Canadian ancestry while the fifth is of English/Scottish origin. A peak multipoint lod score of 6.30 was obtained for the marker MYH7.1 in the families, confirming linkage to 14q11.2-q13. The English/Scottish family exhibited a different chromosomal haplotype for the oculopharyngeal muscular dystrophy alleles than did the families of French Canadian origin. These data suggest that this family may represent a second, possibly independent mutation in this disorder.

Full Text

Duke Authors

Cited Authors

  • Stajich, JM; Gilchrist, JM; Lennon, F; Lee, A; Yamaoka, L; Helms, B; Gaskell, PC; Donald, L; Roses, AD; Vance, JM; Pericak-Vance, MA

Published Date

  • November 1996

Published In

Volume / Issue

  • 40 / 5

Start / End Page

  • 801 - 804

PubMed ID

  • 8957024

International Standard Serial Number (ISSN)

  • 0364-5134

Digital Object Identifier (DOI)

  • 10.1002/ana.410400519


  • eng

Conference Location

  • United States