Article
Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotype.
Human mutation - 1 Apr 2015
Puppo Francesca, Dionnet Eugenie, Gaillard Marie-Cécile, Gaildrat Pascaline, Castro Christel, Vovan Catherine, Bertaux Karine, Bernard Rafaelle, Attarian Shahram, Goto Kanako, Nishino Ichizo, Hayashi Yukiko, Magdinier Frédérique, Krahn Martin, Helmbacher Françoise, Bartoli Marc, Lévy Nicolas
Abstract excerpt
Facioscapulohumeralmuscular dystrophy (FSHD) is linked to copy-number reduction (N < 10) of the 4q D4Z4 subtelomeric array, in association with DUX4-permissive haplotypes. This main form is indicated as FSHD1. FSHD-like phenotypes may also appear in the absence of D4Z4 copy-number reduction. Variants of the SMCHD1 gene have been reported to associate with D4Z4 hypomethylation in DUX4-compatible haplotypes, thus...
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