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

Publication ,  Journal Article
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 in: Neuromuscul Disord
October 1997

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.

Duke Scholars

Published In

Neuromuscul Disord

DOI

ISSN

0960-8966

Publication Date

October 1997

Volume

7 Suppl 1

Start / End Page

S75 / S81

Location

England

Related Subject Headings

  • United States
  • Pharyngeal Muscles
  • Pedigree
  • Oculomotor Muscles
  • Neurology & Neurosurgery
  • Mutation
  • Muscular Dystrophies
  • Middle Aged
  • Male
  • Humans
 

Citation

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Stajich, J. M., Gilchrist, J. M., Lennon, F., Lee, A., Yamaoka, L., Rosi, B., … Pericak-Vance, M. A. (1997). Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13 in American families suggests the existence of a second causal mutation. Neuromuscul Disord, 7 Suppl 1, S75–S81. https://doi.org/10.1016/s0960-8966(97)00087-4
Stajich, J. M., J. M. Gilchrist, F. Lennon, A. Lee, L. Yamaoka, B. Rosi, P. C. Gaskell, et al. “Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13 in American families suggests the existence of a second causal mutation.Neuromuscul Disord 7 Suppl 1 (October 1997): S75–81. https://doi.org/10.1016/s0960-8966(97)00087-4.
Stajich JM, Gilchrist JM, Lennon F, Lee A, Yamaoka L, Rosi B, et al. Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13 in American families suggests the existence of a second causal mutation. Neuromuscul Disord. 1997 Oct;7 Suppl 1:S75–81.
Stajich, J. M., et al. “Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13 in American families suggests the existence of a second causal mutation.Neuromuscul Disord, vol. 7 Suppl 1, Oct. 1997, pp. S75–81. Pubmed, doi:10.1016/s0960-8966(97)00087-4.
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. Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13 in American families suggests the existence of a second causal mutation. Neuromuscul Disord. 1997 Oct;7 Suppl 1:S75–S81.
Journal cover image

Published In

Neuromuscul Disord

DOI

ISSN

0960-8966

Publication Date

October 1997

Volume

7 Suppl 1

Start / End Page

S75 / S81

Location

England

Related Subject Headings

  • United States
  • Pharyngeal Muscles
  • Pedigree
  • Oculomotor Muscles
  • Neurology & Neurosurgery
  • Mutation
  • Muscular Dystrophies
  • Middle Aged
  • Male
  • Humans