Molecular analysis of British facioscapulohumeral dystrophy families for 4q DNA rearrangements

Facioscapulohumeral muscular dystrophy is an important autosomal dominant neuromuscular disorder that has been localised to 4q35. We have analysed our extensive panel of 45 families with a new DNA marker p13E-11. The findings, based on multiply informative individual meioses and multipoint mapping, suggest that probe p13E-11 is the closest marker for the disorder and it is likely to be located proximal to the disease locus as are all the other present markers. In nine of the ten new mutations studied, a new smaller EcoRI fragment which was not present in either of the parents was detected, indicating that a de novo DNA rearrangment is indeed associated with the development of the disease state