Mutation spectrum and phenotypic manifestation in FSHD Greek patients

• Published in: Neuromuscular disorders : NMD Vol. 22; no. 4; pp. 339 - 349
• Main Authors: Sakellariou, P, Kekou, K, Fryssira, H, Sofocleous, C, Manta, P, Panousopoulou, A, Gounaris, K, Kanavakis, E
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01.04.2012
• Subjects: 4q35; Adolescent; Adult; Aged; Aged, 80 and over; Asymptomatic; Child; Child, Preschool; Chromosomes, Human, Pair 4; D4Z4; Data processing; Deoxyribonuclease EcoRI; Female; Founder effect; FSHMD; Genetic analysis; Genetic Testing; Greece; Humans; Male; Middle Aged; Muscular dystrophy; Muscular Dystrophy, Facioscapulohumeral - diagnosis; Muscular Dystrophy, Facioscapulohumeral - genetics; Mutation; Mutation - genetics; Myopathy; Neurology; neuromuscular system; Phenotype; Twins; Twins, Monozygotic - genetics; Young Adult; Greece; Phenotype; Asymptomatic; FSHMD; D4Z4; 4q35
• ISSN: 0960-8966; 1873-2364
• DOI: 10.1016/j.nmd.2011.11.001

Abstract Facioscapulohumeral Muscular Dystrophy (FSHD) is a genetic myopathy with a remarkable intra- and inter-familial clinical heterogeneity. This study reports the clinical and genetic analysis of 133 individuals from 71 unrelated Greek families based on a revised Clinical Severity Score (rCSS) index which was developed for clinical assessment regarding the disease progression. A high ratio (31/62, 50%) of probands’ family members was found to be asymptomatic or minimally affected gene carriers of a contracted 4q allele. Moreover, a notable clinical variability of FSHD is reported concerning the detection of an identical de novo 13 kb EcoRI fragment in monozygotic twins, as well as indications of founder effect. This is the first survey that presents data of FSHD families from an East Mediterranean country supporting the speculation that the prevalence of disease might be significantly underestimated and that synergistic factors could play an essential role on the progression of the disease.