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

Jeffrey M. Stajich, James M. Gilchrist, Felicia Lennon, Arnold Lee, Larry Yamaoka, Barbara Helms, Perry C. Gaskell, Lauren Donald, Allen D. Roses, Jeffrey M. Vance, Margaret A. Pericak-Vance

Research output: Contribution to journalArticlepeer-review

15 Scopus citations

Abstract

Oculopharyngeal muscular dystrophy is a late-onset, autosomally dominant disorder characterized by progressive prosis, 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.

Original languageEnglish (US)
Pages (from-to)801-804
Number of pages4
JournalAnnals of neurology
Volume40
Issue number5
DOIs
StatePublished - Nov 1996
Externally publishedYes

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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