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 Citations (Scopus)

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
JournalNeuromuscular Disorders
Volume7
Issue numberSUPPL. 1
DOIs
StatePublished - Oct 1 1997
Externally publishedYes

Fingerprint

Oculopharyngeal Muscular Dystrophy
Chromosomes
Mutation
Haplotypes
Lod Score
Genetic Heterogeneity
Deglutition Disorders
Extremities
Alleles

Keywords

  • Linkage analysis
  • Mutation
  • Oculopharyngeal muscular dystrophy

ASJC Scopus subject areas

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

Cite this

Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13 in American families suggests the existence of a second causal mutation. / Stajich, Jeffrey M.; Gilchrist, James M.; Lennon, Felicia; Lee, Arnold; Yamaoka, Larry; Rosi, Barbara; Gaskell, Perry C.; Pritchard, Meredyth; Donald, Lauren; Roses, Allen D.; Vance, Jeffery M; Pericak-Vance, Margaret A.

In: Neuromuscular Disorders, Vol. 7, No. SUPPL. 1, 01.10.1997.

Research output: Contribution to journalArticle

Stajich, Jeffrey M. ; Gilchrist, James M. ; Lennon, Felicia ; Lee, Arnold ; Yamaoka, Larry ; Rosi, Barbara ; Gaskell, Perry C. ; Pritchard, Meredyth ; Donald, Lauren ; Roses, Allen D. ; Vance, Jeffery M ; Pericak-Vance, Margaret A. / Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13 in American families suggests the existence of a second causal mutation. In: Neuromuscular Disorders. 1997 ; Vol. 7, No. SUPPL. 1.
@article{216b90d59d284b86a304151a120a0cfc,
title = "Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13 in American families suggests the existence of a second causal mutation",
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.",
keywords = "Linkage analysis, Mutation, Oculopharyngeal muscular dystrophy",
author = "Stajich, {Jeffrey M.} and Gilchrist, {James M.} and Felicia Lennon and Arnold Lee and Larry Yamaoka and Barbara Rosi and Gaskell, {Perry C.} and Meredyth Pritchard and Lauren Donald and Roses, {Allen D.} and Vance, {Jeffery M} and Pericak-Vance, {Margaret A}",
year = "1997",
month = "10",
day = "1",
doi = "10.1016/S0960-8966(97)00087-4",
language = "English",
volume = "7",
journal = "Neuromuscular Disorders",
issn = "0960-8966",
publisher = "Elsevier Limited",
number = "SUPPL. 1",

}

TY - JOUR

T1 - Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13 in American families suggests the existence of a second causal mutation

AU - Stajich, Jeffrey M.

AU - Gilchrist, James M.

AU - Lennon, Felicia

AU - Lee, Arnold

AU - Yamaoka, Larry

AU - Rosi, Barbara

AU - Gaskell, Perry C.

AU - Pritchard, Meredyth

AU - Donald, Lauren

AU - Roses, Allen D.

AU - Vance, Jeffery M

AU - Pericak-Vance, Margaret A

PY - 1997/10/1

Y1 - 1997/10/1

N2 - 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.

AB - 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.

KW - Linkage analysis

KW - Mutation

KW - Oculopharyngeal muscular dystrophy

UR - http://www.scopus.com/inward/record.url?scp=0030778843&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0030778843&partnerID=8YFLogxK

U2 - 10.1016/S0960-8966(97)00087-4

DO - 10.1016/S0960-8966(97)00087-4

M3 - Article

C2 - 9392021

AN - SCOPUS:0030778843

VL - 7

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

SN - 0960-8966

IS - SUPPL. 1

ER -