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Article

Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy.

European journal of human genetics : EJHG - 1 Jan 2015

Winston Jincy, Duerden Laura, Mort Matthew, Frayling Ian M, Rogers Mark T, Upadhyaya Meena

Abstract excerpt

Facioscapulohumeral muscular dystrophy 1 (FSHD1) is caused by a contraction in the number of D4Z4 repeats on chromosome 4, resulting in relaxation of D4Z4 chromatin causing inappropriate expression of DUX4 in skeletal muscle. Clinical severity is inversely related to the number of repeats. In contrast, FSHD2 patients also have inappropriate expression of DUX4 in skeletal muscle, but due to constitutional...

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Topics

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Share to Chromosomal Proteins, Non-Histone
Share to DNA Methylation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Muscular Dystrophy, Facioscapulohumeral

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Source

Open in PubMed Open full text

Identifiers

PMID: 24755953
DOI: 10.1038/ejhg.2014.58
PMCID: PMC4266742

Genes

SMCHD1
DUX4

Variants

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.

Related research

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Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy.PMID 24755953Read ↗

The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1.Semantic proximity Read ↗

Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1.Semantic proximity Read ↗

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

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

Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2.Semantic proximity Read ↗

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

Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report.Semantic proximity Read ↗

Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing.Semantic proximity Read ↗

SMCHD1 genetic variants in type 2 FacioScapuloHumeral dystrophy and challenges in predicting pathogenicity and disease penetrance.Semantic proximity Read ↗

Remotely acting SMCHD1 gene regulatory elements: in silico prediction and identification of potential regulatory variants in patients with FSHD.Semantic proximity Read ↗

Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2.Semantic proximity Read ↗

SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes.Semantic proximity Read ↗

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