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Article

Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2.

Journal of medical genetics - 1 May 2016

Calandra Patrizia, Cascino Isabella, Lemmers Richard J L F, Galluzzi Giuliana, Teveroni Emanuela, Monforte Mauro, Tasca Giorgio, Ricci Enzo, Moretti Fabiola, van der Maarel Silvère M, Deidda Giancarlo

Abstract excerpt

BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD) is associated with an epigenetic defect on 4qter. Two clinically indistinguishable forms of FSHD are known, FSHD1 and FSHD2. FSHD1 is caused by contraction of the highly polymorphic D4Z4 macrosatellite repeat array on chromosome 4q35. FSHD2 is caused by pathogenic mutations of the SMCHD1 gene.Both genetic defects lead to D4Z4 DNA hypomethylation. In the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26831754
DOI: 10.1136/jmedgenet-2015-103436

Genes

DUX4
SMCHD1

Provenance

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