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Article

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

Journal of medical genetics - 1 Dec 2019

Goossens Remko, van den Boogaard Marlinde L, Lemmers Richard J L F, Balog Judit, van der Vliet Patrick J, Willemsen Iris M, Schouten Julie, Maggio Ignazio, van der Stoep Nienke, Hoeben Rob C, Tapscott Stephen J, Geijsen Niels, Gonçalves Manuel A F V, Sacconi Sabrina, Tawil Rabi, van der Maarel Silvère M

Abstract excerpt

BACKGROUND: Facioscapulohumeral dystrophy (FSHD) is associated with partial chromatin relaxation of the DUX4 retrogene containing D4Z4 macrosatellite repeats on chromosome 4, and transcriptional de-repression of DUX4 in skeletal muscle. The common form of FSHD, FSHD1, is caused by a D4Z4 repeat array contraction. The less common form, FSHD2, is generally caused by heterozygous variants in SMCHD1. METHODS: We...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomal Proteins, Non-Histone

Share to Chromosomes, Human, Pair 4

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Share to Muscular Dystrophy, Facioscapulohumeral

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Identifiers

PMID: 31676591
DOI: 10.1136/jmedgenet-2019-106402
PMCID: PMC11578682

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Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing.PMID 31676591Read ↗

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