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    FSHMD1A facioscapulohumeral muscular dystrophy 1A [ Homo sapiens (human) ]

    Gene ID: 2489, updated on 6-May-2024

    Summary

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    Gene symbol
    FSHMD1A
    Gene description
    facioscapulohumeral muscular dystrophy 1A
    Primary source
    MIM:158900
    Gene type
    unknown
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FMD; FSHD; FSHMD; FSHD1A
    Summary
    Facioscapulohumeral muscular dystrophy (FSHD) is a common hereditary disease of muscle. Patients with FSHD have a chromosomal rearrangement within the subtelomeric region of chromosome 4 (4q35). This region is composed mainly of a polymorphic repeat structure consisting of 3.3 kb repeat units, designated D4Z4. The number of repeat units varies from 10 to more than 100 in the population, however, in FSHD patients only 1-10 repeat units is observed because of a deletion of an integral number of these units. FSHD is caused by an epigenetic mechanism involving the contraction of a subtelomeric macrosatellite repeat, which results in marked hypomethylation of the contracted D4Z4 allele. It is likely not the structure, but the deregulation of transcription of one or more genes as a result of repeat-contraction-mediated chromatin alterations, that causes FSHD. [provided by RefSeq, Sep 2011]

    Genomic context

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    Location:
    4q35

    Bibliography

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    Related articles in PubMed

    1. Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry. Nikolic A, et al. BMJ Open, 2016 Jan 5. PMID 26733561, Free PMC Article
    2. [Cascade of gene activation in Landouzy Dejerine muscular dystrophy]. Belayew A. Bull Mem Acad R Med Belg, 2010. PMID 21166133
    3. The 4q subtelomere harboring the FSHD locus is specifically anchored with peripheral heterochromatin unlike most human telomeres. Tam R, et al. J Cell Biol, 2004 Oct 25. PMID 15504910, Free PMC Article
    4. Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation. Winokur ST, et al. Hum Mol Genet, 2003 Nov 15. PMID 14519683
    5. Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q. Jiang G, et al. Hum Mol Genet, 2003 Nov 15. PMID 14506132

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Exchange of subtelomeric regions between chromosomes 4q and 10q reverts the FSHD genotype and phenotype.
      Title: Exchange of subtelomeric regions between chromosomes 4q and 10q reverts the FSHD genotype and phenotype.
    2. The size of the D4Z4 allele is not always predictive of severe clinical outcome. The high degree of clinical variability suggests that additional factors contribute to the phenotype complexity.
      Title: Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry.
    3. The coexistence of mutations in SPAST and FSHD was confirmed in our proband and in two siblings
      Title: A new double-trouble phenotype: fascioscapulohumeral muscular dystrophy ameliorates hereditary spastic paraparesis due to spastin mutation.
    4. Long Non-coding RNA DBE-T recruits the Trithorax group protein Ash1L to the FSHD locus, driving histone H3 lysine 36 dimethylation, chromatin remodeling, and 4q35 gene transcription.
      Title: A long ncRNA links copy number variation to a polycomb/trithorax epigenetic switch in FSHD muscular dystrophy.
    5. Laboratory studies the Landouzy Dejerine muscular dystrophy or FSHD, a genetic disease which affects 7 in 100,000 individuals. The genetic defect is a deletion on chromosome 4.
      Title: [Cascade of gene activation in Landouzy Dejerine muscular dystrophy].
    6. Complementary fluorescence in situ hybridization analysis showed that the translocation breakpoints were located in the EWSR1 gene at 22q12 and the region of the DUX4 and FSHMD1A at 4q35.
      Title: Fusion of EWSR1 with the DUX4 facioscapulohumeral muscular dystrophy region resulting from t(4;22)(q35;q12) in a case of embryonal rhabdomyosarcoma.
    7. large genomic deletions were identified in facioscapulohumeral muscular dystrophy involving both D4Z4 and D4F104S1
      Title: D4F104S1 deletion in facioscapulohumeral muscular dystrophy: phenotype, size, and detection.
    8. Expression profiling of FSHD supports a defect in specific stages of myogenic differentiation.
      Title: Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation.
    9. The position-effect variegation hypothesis for FSHD is not valid.
      Title: Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q.
    10. the FSHD locus has a role anchoring peripheral heterochromatin unlike most human telomeres
      Title: The 4q subtelomere harboring the FSHD locus is specifically anchored with peripheral heterochromatin unlike most human telomeres.
    Submit: New GeneRIF Correction

    Phenotypes

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    facioscapulohumeral muscular dystrophy 1A

    General gene information

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    Property

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