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GENATLAS PHENOTYPE

last update : 01-06-2016

Symbol	FSHD2
Location	18p11.32
Name	Fascioscapulohumeral muscular dystrophy 2, digenic
Corresponding gene	SMCHD1
Main clinical features	muscular dystrophy characterized by muscle weakness that first affects the facial muscles and upper extremities, later progressing to involve the lower extremities; the pattern of weakness is usually asymmetric
Genetic determination	autosomal dominant
Function/system disorder	neuromuscular
Type	disease

Remark(s)

. FSHD2 involves chromatin relaxation due to mutations that affect a chromatin modifier (black dots), most often SMCHD1 (PMID: 27153398)) In the rare FSHD2 type of the disease, D4Z4 hypomethylation is observed on all D4Z4 repeat arrays in the absence of D4Z4 contractions (PMID: 27153398)) FSHD2 mutations result in decreased ATP hydrolysis (PMID: 29748383))

Genotype/Phenotype correlations

mutations in DNMT3B modify epigenetic repression of the D4Z4 repeat and the penetrance of Facioscapulohumeral Dystrophy (FSHMD1A, FSHD2) (PMID: 27153398))