Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome

Dimitri Renard (1) , Guillaume Taieb (1) , Matteo Garibaldi (2, 3, 4) , André Maues de Paula (5) , Rafaelle Bernard (6, 7) , Nadira Lagha (8) , Gael Cristofari (8, 9) , Catherine Vovan (7) , Charlene Chaix (7) , Nicolas Levy (6, 7) , Philippe Khau van Kien (1) , Sabrina Sacconi (2, 8, 3)

1 CHU Nîmes - Hôpital Universitaire Carémeau [Nîmes]
2 CHU Nice - Centre Hospitalier Universitaire de Nice
3 UniCA - Université Côte d'Azur
4 UNIROMA - Università degli Studi di Roma "La Sapienza" = Sapienza University [Rome]
5 Neurologie, maladies neuro-musculaires [Hôpital de la Timone - APHM]
6 MMG - Marseille medical genetics - Centre de génétique médicale de Marseille
7 Département de génétique médicale [Hôpital de la Timone - APHM]
8 IRCAN - Institut de Recherche sur le Cancer et le Vieillissement
9 OncoAge - FHU OncoAge - Pathologies liées à l’âge [CHU Nice]

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.

Mots clés: 18p deletion syndrome; MRI; facioscapulohumeral muscular dystrophy type 2; hypomethylation; inflammatory; muscle biopsy

Domaines: Sciences du Vivant [q-bio]; Médecine humaine et pathologie; Rhumatologie et système ostéo-articulaire

Dimitri Renard, Guillaume Taieb, Matteo Garibaldi, André Maues de Paula, Rafaelle Bernard, et al.. Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome. American Journal of Medical Genetics Part A, 2018, 176 (8), pp.1760-1763. ⟨10.1002/ajmg.a.38843⟩. ⟨hal-01991350⟩