An inherited 4q35-EcoRI-DNA-fragment of 35 kb in a family with a sporadic case of facioscapulohumeral muscular dystrophy (FSHD)

We present a case of an adult male patient showing clinical, neurophysiolog ical and histological signs consistent with the phenotype of facioscapulohu meral muscular dystrophy. On molecular testing with a 4q35-DNA-probe p13E-1 1 (D4F104S1), the patient, his clinically unaffected mother and two sisters shared a 4q35-EcoRI-DNA-fragment of 35 kb on the transition between FSHD1A -associated and polymorphic fragments. Explanatory hypotheses. such as redu ced penetrance in females or a phenotype unlinked to the 4q35-locus are con sidered. Alternatively, additional changes in the unidentified FSHD1A gene could have caused the phenotype. Thus, in such rare cases. the diagnostic e vidence of 4q35-EcoRI-fragments is still limited. (C) 2000 Elsevier Science B.V. All rights reserved.