Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

• Published in: Nature genetics Vol. 44; no. 12; pp. 1370 - 1374
• Main Authors: Lemmers, Richard J L F, Tawil, Rabi, Petek, Lisa M, Balog, Judit, Block, Gregory J, Santen, Gijs W E, Amell, Amanda M, van der Vliet, Patrick J, Almomani, Rowida, Straasheijm, Kirsten R, Krom, Yvonne D, Klooster, Rinse, Sun, Yu, den Dunnen, Johan T, Helmer, Quinta, Donlin-Smith, Colleen M, Padberg, George W, van Engelen, Baziel G M, de Greef, Jessica C, Aartsma-Rus, Annemieke M, Frants, Rune R, de Visser, Marianne, Desnuelle, Claude, Sacconi, Sabrina, Filippova, Galina N, Bakker, Bert, Bamshad, Michael J, Tapscott, Stephen J, Miller, Daniel G, van der Maarel, Silvère M
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01.12.2012; Nature Publishing Group
• Subjects: 631/208/176; 631/208/2489/144; 692/699/1670/1669; Adult; Aged; Agriculture; Allelomorphism; Animal Genetics and Genomics; Biological and medical sciences; Biomedicine; Cancer Research; Chromosomal Proteins, Non-Histone - genetics; Chromosomes; Chromosomes, Human, Pair 18 - genetics; CpG Islands - genetics; Development Biology; Diseases of striated muscles. Neuromuscular diseases; DNA Methylation - genetics; Dystrophy; Epigenesis, Genetic; Facioscapulohumeral muscular dystrophy; Female; Fundamental and applied biological sciences. Psychology; Gene Function; Gene mutations; Genetic aspects; Genetics; Genetics of eukaryotes. Biological and molecular evolution; Haplotypes; Health aspects; Heredity - genetics; Homeodomain Proteins - genetics; Human Genetics; Humans; letter; Life Sciences; Male; Medical sciences; Middle Aged; Muscular Dystrophy, Facioscapulohumeral - genetics; Mutation; Neurology; Physiological aspects; Proteins; France; United States; Netherlands; Nervous system diseases; Neuromuscular diseases; Allele; Inheritance(genetics); Mutation; Facioscapulohumeral; Muscular dystrophy; Genetic disease

Silvère van der Maarel, Stephen Tapscott, Daniel Miller and colleagues show that digenic inheritance of a mutation in SMCHD1 and a chromosome 4 haplotype permissive for DUX4 mRNA polyadenylation causes fascioscapulohumeral dystrophy type 2. Facioscapulohumeral dystrophy (FSHD) is characterized by ch...