Abstract
Facioscapulohumeral muscular dystrophy (FSHD) has been shown to be related to genetic and epigenetic derepression of DUX4 (mapping to chromosome 4), a gene located within a repeat array of D4Z4 sequences of polymorphic length. FSHD type 1 (FSHD1) is associated with pathogenic D4Z4 repeat array contraction, while FSHD type 2 (FSHD2) is associated with SMCHD1 variants (a chromatin modifier gene that maps to the short arm of chromosome 18). Both FSHD types require permissive polyadenylation signal (4qA) downstream of the D4Z4 array.
Keywords:
18p deletion syndrome; MRI; facioscapulohumeral muscular dystrophy type 2; hypomethylation; inflammatory; muscle biopsy.
© 2018 Wiley Periodicals, Inc.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Biopsy
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Chromatin / genetics
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Chromosomal Proteins, Non-Histone / genetics*
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Chromosome Deletion
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Chromosome Disorders / genetics*
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Chromosome Disorders / physiopathology
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Chromosomes, Human, Pair 18 / genetics
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Epigenomics
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Gain of Function Mutation / genetics
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Homeodomain Proteins / genetics
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Humans
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Intellectual Disability / diagnosis
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Intellectual Disability / genetics*
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Intellectual Disability / physiopathology
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Male
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Muscular Dystrophy, Facioscapulohumeral / classification
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Muscular Dystrophy, Facioscapulohumeral / genetics*
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Muscular Dystrophy, Facioscapulohumeral / pathology
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RNA 3' Polyadenylation Signals / genetics
Substances
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Chromatin
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Chromosomal Proteins, Non-Histone
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DUX4L1 protein, human
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Homeodomain Proteins
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SMCHD1 protein, human
Supplementary concepts
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Chromosome 18p deletion syndrome