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Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome
Author(s) -
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
Publication year - 2018
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.38843
Subject(s) - facioscapulohumeral muscular dystrophy , genetics , muscular dystrophy , epigenetics , chromatin , biology , subtelomere , chromosome , gene
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.