Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: The results of a collaborative study

G. Giacomo Consalez, Nick S T Thomas, Carol L. Stayton, Samantha J L Knight, Mae Johnson, Linton C. Hopkins, Peter S. Harper, Louis J. Elsas, Stephen T. Warren

Research output: Contribution to journalArticle

Abstract

Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked humeroperoneal dystrophy associated with cardiomyopathy that is distinct from the Duchenne and Becker forms of X-linked muscular dystrophy. Linkage analysis has assigned EDMD to the terminal region of the human X chromosome long arm. We report here further linkage analysis in two multigenerational EDMD families using seven Xq28 marker loci. Cumulative lod scores suggest that EDMD is approximately 2 cM from DXS52 (lod = 15.67) and very close to the factor VIII (F8C) and the red/green color pigment (R/GCP) loci, with respective lod scores of 9.62 and 10.77, without a single recombinant. Several recombinations between EDMD and three proximal Xq28 markers suggest that the EDMD gene is located in distal Xq28. Multipoint linkage analysis indicates that the odds are 2,000:1 that EDMD lies distal to DXS305. These data substantially refine the ability to perform accurate carrier detection, prenatal diagnosis, and the presymptomatic diagnosis of at-risk males for EDMD by linkage analysis. The positioning of the EDMD locus close to the loci for F8C and R/GCP will assist in future efforts to identify and isolate the disease gene.

Original languageEnglish
Pages (from-to)468-480
Number of pages13
JournalAmerican Journal of Human Genetics
Volume48
Issue number3
Publication statusPublished - Mar 1991

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Emery-Dreifuss Muscular Dystrophy
Lod Score
Color
Chromosomes, Human, X
Muscular Dystrophies
Factor VIII
Prenatal Diagnosis
Cardiomyopathies
Genetic Recombination
Genes

ASJC Scopus subject areas

  • Genetics

Cite this

Consalez, G. G., Thomas, N. S. T., Stayton, C. L., Knight, S. J. L., Johnson, M., Hopkins, L. C., ... Warren, S. T. (1991). Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: The results of a collaborative study. American Journal of Human Genetics, 48(3), 468-480.

Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28 : The results of a collaborative study. / Consalez, G. Giacomo; Thomas, Nick S T; Stayton, Carol L.; Knight, Samantha J L; Johnson, Mae; Hopkins, Linton C.; Harper, Peter S.; Elsas, Louis J.; Warren, Stephen T.

In: American Journal of Human Genetics, Vol. 48, No. 3, 03.1991, p. 468-480.

Research output: Contribution to journalArticle

Consalez, GG, Thomas, NST, Stayton, CL, Knight, SJL, Johnson, M, Hopkins, LC, Harper, PS, Elsas, LJ & Warren, ST 1991, 'Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: The results of a collaborative study', American Journal of Human Genetics, vol. 48, no. 3, pp. 468-480.
Consalez, G. Giacomo ; Thomas, Nick S T ; Stayton, Carol L. ; Knight, Samantha J L ; Johnson, Mae ; Hopkins, Linton C. ; Harper, Peter S. ; Elsas, Louis J. ; Warren, Stephen T. / Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28 : The results of a collaborative study. In: American Journal of Human Genetics. 1991 ; Vol. 48, No. 3. pp. 468-480.
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