Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome. Issue 8 (28th July 2018)

• Record Type: Journal Article
• Authors: Renard, Dimitri; Taieb, Guillaume; Garibaldi, Matteo; Maues De Paula, Andre; Bernard, Rafaelle; Lagha, Nadira; Cristofari, Gael; Vovan, Catherine; Chaix, Charlène; Lévy, Nicolas; Khau Van Kien, Philippe; Sacconi, Sabrina
• Is Part Of: American journal of medical genetics. Volume 176:Issue 8(2018)
• Page Start: 1760
• Page End: 1763
• Publication Date: 2018-07-28
• Subjects: 18p deletion syndrome -- facioscapulohumeral muscular dystrophy type 2 -- hypomethylation -- inflammatory -- MRI -- muscle biopsy; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.38843
• Languages: English
• ISSNs: 1552-4825

Abstract

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.