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Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.69 DNMT3B Bryony Thompson Marked gene: DNMT3B as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.69 DNMT3B Bryony Thompson Gene: dnmt3b has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.69 DNMT3B Bryony Thompson Classified gene: DNMT3B as Amber List (moderate evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.69 DNMT3B Bryony Thompson Gene: dnmt3b has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.68 DNMT3B Bryony Thompson gene: DNMT3B was added
gene: DNMT3B was added to Limb Girdle Muscular Dystrophy. Sources: Literature
Mode of inheritance for gene: DNMT3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DNMT3B were set to 27153398; 33004076
Phenotypes for gene: DNMT3B were set to Facioscapulohumeral muscular dystrophy MONDO:0001347
Review for gene: DNMT3B was set to AMBER
Added comment: FSHD shares some features with LGMD.
Two families reported with FSHD2. In one family carriers of the heterozygous DNMT3B missense variant (c.1579T>C) had reduced DNA methylation levels at the D4Z4 repeat array and were more likely to develop FSHD in comparison to other family members carrying an identical permissive 4qA allele of 9 D4Z4 units. In the other family, digenic inheritance of a heterozygous DNMT3B missense variant (c.2072C>T) and a permissive 4qA allele of 13 D4Z4 units induced hypomethylation at the D4Z4 repeat array but only one of the two family members was diagnosed with FSHD. A mouse model with an in-frame deletion (similar to the reported missense variants) does not induce a skeletal muscle pathology nor does it increase the extremely low DUX4 transcript levels in skeletal muscles of a FSHD transgenic mouse. The mouse model also suggested that Smchd1 may have a more potent role in DUX4 derepression than Dnmt3b.
Sources: Literature