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 journalArticlepeer-review

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

ASJC Scopus subject areas

  • Genetics

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