title: Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: the results of a collaborative study.
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.
authors.affiliation: Department of Biochemistry, Emory University School of Medicine, Atlanta, GA 30322.
authors.forename: G G
authors.initials: GG
authors.lastname: Consalez
authors.forename: N S
authors.initials: NS
authors.lastname: Thomas
authors.forename: C L
authors.initials: CL
authors.lastname: Stayton
authors.forename: S J
authors.initials: SJ
authors.lastname: Knight
authors.forename: M
authors.initials: M
authors.lastname: Johnson
authors.forename: L C
authors.initials: LC
authors.lastname: Hopkins
authors.forename: P S
authors.initials: PS
authors.lastname: Harper
authors.forename: L J
authors.initials: LJ
authors.lastname: Elsas
authors.forename: S T
authors.initials: ST
authors.lastname: Warren
mesh_terms: D002874:Chromosome Mapping; D004247:DNA / Q000032:analysis; D005260:Female; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D005819:Genetic Markers; D005820:Genetic Testing; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics*; D020389:Muscular Dystrophy, Emery-Dreifuss; D010375:Pedigree; D011110:Polymorphism, Genetic; D012307:Risk Factors; D014960:X Chromosome / Q000648:ultrastructure*
chemical_list: D005819:Genetic Markers; D004247:DNA