2016
DOI: 10.1016/j.ajhg.2016.03.013
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Abstract: Facioscapulohumeral dystrophy (FSHD) is associated with somatic chromatin relaxation of the D4Z4 repeat array and derepression of the D4Z4-encoded DUX4 retrogene coding for a germline transcription factor. Somatic DUX4 derepression is caused either by a 1-10 unit repeat-array contraction (FSHD1) or by mutations in SMCHD1, which encodes a chromatin repressor that binds to D4Z4 (FSHD2). Here, we show that heterozygous mutations in DNA methyltransferase 3B (DNMT3B) are a likely cause of D4Z4 derepression associat… Show more

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Cited by 190 publications
(168 citation statements)
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“…These polymorphic FSHD1-sized D4Z4 contractions are not sufficient for pathogenesis; development of FSHD also requires a disease permissive allele of the chromosome 4q subtelomere (4A) in cis with the contracted array [19, 2123]. FSHD2 (OMIM 158901), the far less common form of FSHD, presents with similar clinical features as FSHD1, but is caused by unlinked mutations in genes encoding chromatin regulatory proteins [7, 8, 24, 25]. However, FSHD2 is also genetically linked to the 4q35 array by the requirement of at least one permissive 4A-type subtelomere and a specific range of D4Z4 RUs (~11–28 RUs) in order to develop disease [7, 23].…”
Section: Introductionmentioning
confidence: 99%
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“…These polymorphic FSHD1-sized D4Z4 contractions are not sufficient for pathogenesis; development of FSHD also requires a disease permissive allele of the chromosome 4q subtelomere (4A) in cis with the contracted array [19, 2123]. FSHD2 (OMIM 158901), the far less common form of FSHD, presents with similar clinical features as FSHD1, but is caused by unlinked mutations in genes encoding chromatin regulatory proteins [7, 8, 24, 25]. However, FSHD2 is also genetically linked to the 4q35 array by the requirement of at least one permissive 4A-type subtelomere and a specific range of D4Z4 RUs (~11–28 RUs) in order to develop disease [7, 23].…”
Section: Introductionmentioning
confidence: 99%
“…However, FSHD2 is also genetically linked to the 4q35 array by the requirement of at least one permissive 4A-type subtelomere and a specific range of D4Z4 RUs (~11–28 RUs) in order to develop disease [7, 23]. Thus, with these genetic requirements, FSHD2 is considered a digenic disease [8, 25]. …”
Section: Introductionmentioning
confidence: 99%
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“…Presence of DUX4 in skeletal muscle activates a series of transcriptional programs, eventually leading to muscle cell death 4. In the rare form, FSHD2, D4Z4 chromatin relaxation and DUX4 derepression in skeletal muscle are caused by mutations in the chromatin regulator, SMCHD1, or rarely DNMT3B 5, 6. The FSHD phenotype encompasses a broad spectrum of severity ranging from nonpenetrant mutation carriers to severely affected patients.…”
mentioning
confidence: 99%