Article
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.
Nature genetics - 1 Dec 2012
Lemmers Richard J L F, Tawil Rabi, Petek Lisa M, Balog Judit, Block Gregory J, Santen Gijs W E, Amell Amanda M, van der Vliet Patrick J, Almomani Rowida, Straasheijm Kirsten R, Krom Yvonne D, Klooster Rinse, Sun Yu, den Dunnen Johan T, Helmer Quinta, Donlin-Smith Colleen M, Padberg George W, van Engelen Baziel G M, de Greef Jessica C, Aartsma-Rus Annemieke M, Frants Rune R, de Visser Marianne, Desnuelle Claude, Sacconi Sabrina, Filippova Galina N, Bakker Bert, Bamshad Michael J, Tapscott Stephen J, Miller Daniel G, van der Maarel Silvère M
Abstract excerpt
Facioscapulohumeral dystrophy (FSHD) is characterized by chromatin relaxation of the D4Z4 macrosatellite array on chromosome 4 and expression of the D4Z4-encoded DUX4 gene in skeletal muscle. The more common form, autosomal dominant FSHD1, is caused by contraction of the D4Z4 array, whereas the genetic determinants and inheritance of D4Z4 array contraction-independent FSHD2 are unclear. Here, we show that...
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