Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13 in American families suggests the existence of a second causal mutation.

Journal Article (Journal Article)

Oculopharyngeal muscular dystrophy (OPMD) is a late-onset, autosomal dominant disorder characterized by progressive ptosis, dysphagia, and extremity weakness. Linkage of OPMD to 14q11.2-q13 has been reported in a series of French-Canadian families. Tightly linked markers have been defined and haplotype analysis in these data show a single segregating disease chromosome throughout the OPMD French-Canadian families. We have ascertained and sampled five multigenerational outbred American OPMD families. Four of the five families have known French-Canadian ancestry while the fifth is of English/Scottish origin. Linkage analysis was performed using standard likelihood methods. A peak multipoint lod score of 6.30 was obtained for the marker MYH7.1 in the OPMD families. The English/ Scottish family exhibited a different chromosomal haplotype for the OPMD alleles than the families of French-Canadian origin. These data suggest this family may represent a second, possibly independent mutation in this disorder. Linkage was confirmed to chromosome 14q11.2-q13 with no evidence of genetic heterogeneity.

Full Text

Duke Authors

Cited Authors

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

Published Date

  • October 1997

Published In

Volume / Issue

  • 7 Suppl 1 /

Start / End Page

  • S75 - S81

PubMed ID

  • 9392021

International Standard Serial Number (ISSN)

  • 0960-8966

Digital Object Identifier (DOI)

  • 10.1016/s0960-8966(97)00087-4


  • eng

Conference Location

  • England