Large-Scale Population Analysis Challenges the Current Criteria for the Molecular Diagnosis of Fascioscapulohumeral Muscular Dystrophy

• Published in: American journal of human genetics Vol. 90; no. 4; pp. 628 - 635
• Main Authors: Scionti, Isabella, Greco, Francesca, Ricci, Giulia, Govi, Monica, Arashiro, Patricia, Vercelli, Liliana, Berardinelli, Angela, Angelini, Corrado, Antonini, Giovanni, Cao, Michelangelo, Di Muzio, Antonio, Moggio, Maurizio, Morandi, Lucia, Ricci, Enzo, Rodolico, Carmelo, Ruggiero, Lucia, Santoro, Lucio, Siciliano, Gabriele, Tomelleri, Giuliano, Trevisan, Carlo Pietro, Galluzzi, Giuliana, Wright, Woodring, Zatz, Mayana, Tupler, Rossella
• Format: Journal Article
• Language: English
• Published: Cambridge, MA Elsevier Inc 06.04.2012; Cell Press; Elsevier
• Subjects: Adult; Aged; Biological and medical sciences; Biomarkers; Brazil - epidemiology; chromosome 4; Chromosomes, Human, Pair 4 - genetics; Diseases of striated muscles. Neuromuscular diseases; DNA; Female; Fundamental and applied biological sciences. Psychology; Gene expression; Gene polymorphism; General aspects. Genetic counseling; Genetic Testing; Genetics; Genetics of eukaryotes. Biological and molecular evolution; Haplotypes; Haplotypes - genetics; Humans; Italy - epidemiology; Male; Medical genetics; Medical sciences; Middle Aged; Molecular and cellular biology; Muscular dystrophy; Muscular Dystrophy, Facioscapulohumeral - diagnosis; Muscular Dystrophy, Facioscapulohumeral - genetics; Myopathy; Neurology; Polymorphism; Polymorphism, Genetic; Prenatal diagnosis; Tandem Repeat Sequences - genetics; Brazil; Italy; Human; Nervous system diseases; Neuromuscular diseases; Evaluation scale; Genetics; Population; Diagnosis; Muscular dystrophy; Genetic disease

Facioscapulohumeral muscular dystrophy (FSHD) is a common hereditary myopathy causally linked to reduced numbers (≤8) of 3.3 kilobase D4Z4 tandem repeats at 4q35. However, because individuals carrying D4Z4-reduced alleles and no FSHD and patients with FSHD and no short allele have been observed, add...