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

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

Research output: Contribution to journalArticle

8 Scopus citations

Abstract

Oculopharyngeal muscular dystrophy (OPMD) is a late-onset, autosomal dominant disorder characterized bp 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.

Original languageEnglish (US)
Pages (from-to)S75-S81
JournalNeuromuscular Disorders
Volume7
Issue numberSUPPL. 1
DOIs
StatePublished - Oct 1 1997
Externally publishedYes

Keywords

  • Linkage analysis
  • Mutation
  • Oculopharyngeal muscular dystrophy

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

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