title: Emery-Dreifuss muscular dystrophy: linkage to markers in distal Xq28.
abstract: Emery-Dreifuss muscular dystrophy (EMD) is characterised by (1) early contractures of the Achilles tendons, elbows, and postcervical muscles, (2) slowly progressive muscle wasting and weakness with a predominantly humeroperoneal distribution in the early stages, and (3) cardiomyopathy with conduction defects and risk of sudden death. Inheritance is usually X linked recessive but can be autosomal dominant. Family linkage studies have mapped X linked EMD to the distal long arm of the X chromosome but precise genetic localisation has been hampered by the rarity of this condition. We report three new families with X linked Emery-Dreifuss muscular dystrophy studied with DNA markers from Xq27-qter and three previously published families typed for additional markers. No recombination was observed with the red/green cone pigment locus, RGCP (lod score, Z = 2.46), the factor VIII coagulant gene locus, F8C (Z = 6.39), or with DXS115 (Z = 4.94). Two recombinants were observed which mapped EMD distal to DXS15 (DX13) and DXS52 (St14) respectively. Multipoint linkage analysis gave odds exceeding 200:1 for EMD being distal to these markers. A multipoint analysis incorporating published data gave the map cen-DXS304-9cM-DXS15-3cM-DXS52-2 cM-(RGCP,EMD)-3cM-F8C-2cM-DXS115 with odds of 120:1 in favour of a location for EMD between DXS52 and F8C as compared to the next best position distal to F8C.
authors.affiliation: Department of Pathology, University of Cambridge.
authors.forename: J R
authors.initials: JR
authors.lastname: Yates
authors.forename: J P
authors.initials: JP
authors.lastname: Warner
authors.forename: J A
authors.initials: JA
authors.lastname: Smith
authors.forename: F
authors.initials: F
authors.lastname: Deymeer
authors.forename: J P
authors.initials: JP
authors.lastname: Azulay
authors.forename: I
authors.initials: I
authors.lastname: Hausmanowa-Petrusewicz
authors.forename: J
authors.initials: J
authors.lastname: Zaremba
authors.forename: J
authors.initials: J
authors.lastname: Borkowska
authors.forename: N A
authors.initials: NA
authors.lastname: Affara
authors.forename: M A
authors.initials: MA
authors.lastname: Ferguson-Smith
mesh_terms: D000328:Adult; D002648:Child; D002874:Chromosome Mapping; D004247:DNA / Q000235:genetics; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008126:Lod Score; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics*; D020389:Muscular Dystrophy, Emery-Dreifuss; D010375:Pedigree; D014960:X Chromosome
chemical_list: D005819:Genetic Markers; D004247:DNA