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Article

Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2.

European journal of human genetics : EJHG - 1 Jan 2016

van den Boogaard Marlinde L, Lemmers Richard J F L, Camaño Pilar, van der Vliet Patrick J, Voermans Nicol, van Engelen Baziel G M, Lopez de Munain Adolfo, Tapscott Stephen J, van der Stoep Nienke, Tawil Rabi, van der Maarel Silvère M

Abstract excerpt

Facioscapulohumeral muscular dystrophy (FSHD) predominantly affects the muscles in the face, trunk and upper extremities and is marked by large clinical variability in disease onset and progression. FSHD is associated with partial chromatin relaxation of the D4Z4 repeat array on chromosome 4 and the somatic expression of the D4Z4 encoded DUX4 gene. The most common form, FSHD1, is caused by a contraction of the...

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Share to Chromosomal Proteins, Non-Histone

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 4

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Share to Homeodomain Proteins

Share to Muscle, Skeletal

Share to Muscular Dystrophy, Facioscapulohumeral

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Source

Open in PubMed Open full text

Identifiers

PMID: 25782668
DOI: 10.1038/ejhg.2015.55
PMCID: PMC4795239

Genes

SMCHD1
DUX4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2.PMID 25782668Read ↗

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SMCHD1 loss triggers DUX4 expression by disrupting splicing in FSHD2Semantic proximity Read ↗

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.Semantic proximity Read ↗

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