Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13.
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.
Stajich
J M
JM
Division of Neurology, Duke University Medical Center, Durham, NC 27710, USA.
Gilchrist
J M
JM
Lennon
F
F
Lee
A
A
Yamaoka
L
L
Helms
B
B
Gaskell
P C
PC
Donald
L
L
Roses
A D
AD
Vance
J M
JM
Pericak-Vance
M A
MA
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
D005819:Genetic Markers