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Article

Exchange of subtelomeric regions between chromosomes 4q and 10q reverts the FSHD genotype and phenotype.

Science advances - 3 May 2024

Ma Yinxing, Schwager Karpukhina Anna, Dib Carla, Gautier Candice, Hermine Olivier, Allemand Eric, Vassetzky Yegor S

Abstract excerpt

The most common form of facioscapulohumeral dystrophy (FSHD1) is caused by a partial loss of the D4Z4 macrosatellite repeat array in the subtelomeric region of chromosome 4. Patients with FSHD1 typically carry 1 to 10 D4Z4 repeats, whereas nonaffected individuals have 11 to 150 repeats. The ~150-kilobyte subtelomeric region of the chromosome 10q exhibits a ~99% sequence identity to the 4q, including the D4Z4...

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Share to Chromosomes, Human, Pair 10
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Muscular Dystrophy, Facioscapulohumeral

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Identifiers

PMID: 38691604
DOI: 10.1126/sciadv.adl1922
PMCID: PMC11062572

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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