Diagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy: diagnostic approach for sporadic and familial cases

• Published in: Journal of medical genetics Vol. 33; no. 1; pp. 29 - 35
• Main Authors: Bakker, E, Van der Wielen, M J, Voorhoeve, E, Ippel, P F, Padberg, G W, Frants, R R, Wijmenga, C
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01-01-1996; BMJ; BMJ Publishing Group LTD
• Subjects: Biological and medical sciences; Diseases of striated muscles. Neuromuscular diseases; DNA - genetics; Female; Fetal Diseases - genetics; Genetic Markers - genetics; Humans; Male; Medical sciences; Muscular Dystrophies - diagnosis; Muscular Dystrophies - genetics; Neurology; Pedigree; Pregnancy; Prenatal Diagnosis; Restriction Mapping; Human; Prenatal; Neuromuscular diseases; Nervous system diseases; Family study; Diagnosis; Facioscapulohumeral; Muscular dystrophy; Genetic disease
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.33.1.29

Facioscapulohumeral muscular dystrophy (FSHD) is one of the common inherited neuromuscular disorders. The major gene involved, FSHD1, has been localised to chromosome 4q35. This 4q35 locus, detected by pE13-11 (D4F104S1), shows a mutation frequency of about 10% of the incidence. New mutants are characterised by de novo deletions of tens to hundreds of kilobases of DNA. Although these deletion fragments are very useful as a molecular genetic tool, their use in diagnostic DNA testing is hampered by multiple factors, particularly in familial cases. In this report we describe a protocol that can be used for DNA testing in well defined familial cases or proven de novo cases, and in the differential diagnosis of muscular dystrophy patients clinically suspected of having FSHD. In addition, we describe a prenatal diagnosis performed for FSHD1.