title: An inherited 4q35-EcoRI-DNA-fragment of 35 kb in a family with a sporadic case of facioscapulohumeral muscular dystrophy (FSHD).
abstract: We present a case of an adult male patient showing clinical, neurophysiological and histological signs consistent with the phenotype of facioscapulohumeral muscular dystrophy. On molecular testing with a 4q35-DNA-probe p13E-11 (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 reduced penetrance in females or a phenotype unlinked to the 4q35-locus are considered. Alternatively, additional changes in the unidentified FSHD1A gene could have caused the phenotype. Thus, in such rare cases, the diagnostic evidence of 4q35-EcoRI-fragments is still limited.
authors.affiliation: Klinik für Neurologie, Universität Ulm, Steinhövelstrasse 9, D-89075, Ulm, Germany.
authors.forename: K
authors.initials: K
authors.lastname: Busse
authors.forename: J
authors.initials: J
authors.lastname: Köhler
authors.forename: K
authors.initials: K
authors.lastname: Stegmann
authors.forename: D
authors.initials: D
authors.lastname: Pongratz
authors.forename: M C
authors.initials: MC
authors.lastname: Koch
authors.forename: H
authors.initials: H
authors.lastname: Schreiber
mesh_terms: D000328:Adult; D002874:Chromosome Mapping; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D004247:DNA / Q000235:genetics; D015246:Deoxyribonuclease EcoRI / Q000235:genetics*; D006801:Humans; D008297:Male; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000235:genetics*; D010375:Pedigree
chemical_list: D004247:DNA; D015246:Deoxyribonuclease EcoRI