title: Recurrent somatic mosaicism for D4Z4 contractions in a family with facioscapulohumeral muscular dystrophy.
abstract: Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) is caused by contraction of the D4Z4 repeat on 4q35. We describe a FSHD family of unusual genetic complexity presenting with two independent mitotic contractions of D4Z4 in two successive generations. In addition, a non-pathogenic FSHD-sized allele of approximately the same size is interfering with the DNA diagnosis in this family. Interestingly, this allele is not recognized by the probes 4qA and 4qB representing two distal variants of 4qter, suggesting the presence of yet another, infrequent variant of 4qter.
authors.affiliation: Department of Neurology, Sofia Medical University, Sofia, Bulgaria.
authors.forename: Borian T
authors.initials: BT
authors.lastname: Buzhov
authors.forename: Richard J L F
authors.initials: RJ
authors.lastname: Lemmers
authors.forename: Ivailo
authors.initials: I
authors.lastname: Tournev
authors.forename: Michiel J R
authors.initials: MJ
authors.lastname: van der Wielen
authors.forename: Boriana
authors.initials: B
authors.lastname: Ishpekova
authors.forename: Radoslav
authors.initials: R
authors.lastname: Petkov
authors.forename: Julia
authors.initials: J
authors.lastname: Petrova
authors.forename: Rune R
authors.initials: RR
authors.lastname: Frants
authors.forename: George W
authors.initials: GW
authors.lastname: Padberg
authors.forename: Silvère M
authors.initials: SM
authors.lastname: van der Maarel
mesh_terms: D000328:Adult; D000483:Alleles; D015139:Blotting, Southern / Q000379:methods; D002869:Chromosome Aberrations; D002894:Chromosomes, Human, Pair 4; D004576:Electromyography / Q000379:methods; D005192:Family Health; D006801:Humans; D008297:Male; D009030:Mosaicism; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics*