title: Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13.
abstract: 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.
authors.affiliation: Division of Neurology, Duke University Medical Center, Durham, NC 27710, USA.
authors.forename: J M
authors.initials: JM
authors.lastname: Stajich
authors.forename: J M
authors.initials: JM
authors.lastname: Gilchrist
authors.forename: F
authors.initials: F
authors.lastname: Lennon
authors.forename: A
authors.initials: A
authors.lastname: Lee
authors.forename: L
authors.initials: L
authors.lastname: Yamaoka
authors.forename: B
authors.initials: B
authors.lastname: Helms
authors.forename: P C
authors.initials: PC
authors.lastname: Gaskell
authors.forename: L
authors.initials: L
authors.lastname: Donald
authors.forename: A D
authors.initials: AD
authors.lastname: Roses
authors.forename: J M
authors.initials: JM
authors.lastname: Vance
authors.forename: M A
authors.initials: MA
authors.lastname: Pericak-Vance
mesh_terms: D017668:Age of Onset; D000483:Alleles; D002170:Canada; D002874:Chromosome Mapping; D002883:Chromosomes, Human, Pair 14; D016001:Confidence Intervals; D004739:England / Q000208:ethnology; D005602:France / Q000208:ethnology; D008040:Genetic Linkage; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D008126:Lod Score; D009136:Muscular Dystrophies / Q000145:classification / Q000235:genetics* / Q000503:physiopathology; D009801:Oculomotor Muscles; D010609:Pharyngeal Muscles; D012606:Scotland / Q000208:ethnology
chemical_list: D005819:Genetic Markers