6 NOVEL MUTATIONS IN THE EMERIN GENE CAUSING X-LINKED EMERY-DREIFUSS-MUSCULAR-DYSTROPHY

Mutations in the emerin gene, also referred to as the STA- or EMD-gene , have been found to be the cause of X-linked Emery-Dreifuss muscular dystrophy (EMD). For the present study an optimized set of primers was designed to amplify and sequence each of the six emerin gene exons, i ncluding the intron/exon boundaries. All emerin gene exons of 30 unrel ated EMD patients have been screened by heteroduples analysis. Aberran t patterns of single exons were found in seven patients. Direct sequen cing of the respective exons revealed six novel mutations distributed in the promotor region and exons 3-6 (Delta nt -19 to -40; Delta AG nt 620-621; ins A nt 895; Delta AT nt 908-909; C-->A nt 1420; ins TA nt 1570). By this study, the first mutations in the promotor region and i n exon 5 have been identified. Each of the 25 mutations that have been described so far, including those from the present study, abolishes t he synthesis of functional emerin, The mutations were submitted to the EMD Mutation database (http://www.path.cam.ac.uk/emd). (C) 1997 Wiley -Liss, Inc.