title: Germinal mosaicism in facioscapulohumeral muscular dystrophy (FSHD).
abstract: Facioscapulohumeral dystrophy (FSHD) is an autosomal-dominant neuromuscular disorder with a prevalence of 1 in 20,000. The DNA marker p13E-11 (D4F104S1) detects a de novo DNA rearrangement in the majority of sporadic and FSHD cases. These rearrangements consist of deletions of multiple copies of tandem repeat (D4Z4). We have studied 34 new mutation FSHD families of which 26 showed a de novo fragment with p13E-11. In three of the remaining eight families without a de novo fragment, germinal mosaicism was noted. In each case, the proband had inherited a small EcoR1 fragment from the clinically unaffected mother; however, the hybridization signal intensity of this fragment in the mother's DNA was significantly reduced in all three families. This is the first study to describe such mosaicism in FSHD families using DNA analysis and therefore has a considerable significance for genetic counseling and prenatal diagnosis.
authors.affiliation: Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, United Kingdom.
authors.forename: M
authors.initials: M
authors.lastname: Upadhyaya
authors.forename: J
authors.initials: J
authors.lastname: Maynard
authors.forename: M
authors.initials: M
authors.lastname: Osborn
authors.forename: P
authors.initials: P
authors.lastname: Jardine
authors.forename: P S
authors.initials: PS
authors.lastname: Harper
authors.forename: P
authors.initials: P
authors.lastname: Lunt
mesh_terms: D002894:Chromosomes, Human, Pair 4; D015321:Gene Rearrangement; D005819:Genetic Markers; D006801:Humans; D009030:Mosaicism; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000175:diagnosis
chemical_list: D005819:Genetic Markers