Recurrent somatic mosaicism for D4Z4 contractions in a family with facioscapulohumeral muscular dystrophy

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...

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Bibliographic Details
Published in:Neuromuscular disorders : NMD 2005-07, Vol.15 (7), p.471-475
Main Authors: Buzhov, Borian T., Lemmers, Richard J.L.F., Tournev, Ivailo, van der Wielen, Michiel J.R., Ishpekova, Boriana, Petkov, Radoslav, Petrova, Julia, Frants, Rune R., Padberg, George W., van der Maarel, Silvère M.
Format: Article
Language:English
Subjects:
Adult
Alleles
Blotting, Southern - methods
Chromosome Aberrations
Chromosomes, Human, Pair 4
D4Z4
Electromyography - methods
Facioscapulohumeral muscular dystrophy
Family Health
FSHD
Humans
Male
Mosaicism
Muscular Dystrophy, Facioscapulohumeral - genetics
Muscular Dystrophy, Facioscapulohumeral - physiopathology
Non-penetrance
Pedigree
Repetitive Sequences, Nucleic Acid - genetics
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Summary: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.
ISSN:0960-8966
1873-2364
DOI:10.1016/j.nmd.2005.03.005