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
Language
- eng
Conference Location
- England