Article
Remotely acting SMCHD1 gene regulatory elements: in silico prediction and identification of potential regulatory variants in patients with FSHD.
Human genomics - 7 Oct 2015
Mayes Mary B, Morgan Taniesha, Winston Jincy, Buxton Daniel S, Kamat Mihir Anant, Smith Debbie, Williams Maggie, Martin Rebecca L, Kleinjan Dirk A, Cooper David N, Upadhyaya Meena, Chuzhanova Nadia
Abstract excerpt
BACKGROUND: Facioscapulohumeral dystrophy (FSHD) is commonly associated with contraction of the D4Z4 macro-satellite repeat on chromosome 4q35 (FSHD1) or mutations in the SMCHD1 gene (FSHD2). Recent studies have shown that the clinical manifestation of FSHD1 can be modified by mutations in the SMCHD1 gene within a given family. The absence of either D4Z4 contraction or SMCHD1 mutations in a small cohort of...
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