Direct molecular genetic diagnosis and heterozygote identification in X-linked Emery-Dreifuss muscular dystrophy by heteroduplex analysis

• Published in: Disease markers 1997-04, Vol.13 (2), p.77-86
• Main Authors: WULFF, K, EBENER, U, WEHNERT, C.-S, WARD, P. A, REUNER, U, HIEBSCH, W, HERRMANN, F. H, WEHNERT, M
• Format: Article
• Language: English
• Subjects: Biological and medical sciences; Diseases of striated muscles. Neuromuscular diseases; DNA Mutational Analysis; Female; Genetic Carrier Screening - methods; Genetic Linkage; Humans; Male; Medical sciences; Membrane Proteins - genetics; Molecular Sequence Data; Muscular Dystrophies - diagnosis; Muscular Dystrophies - etiology; Muscular Dystrophies - genetics; Muscular Dystrophy, Emery-Dreifuss; Neurology; Nuclear Proteins; Nucleic Acid Heteroduplexes - chemistry; Pedigree; Polymerase Chain Reaction; Thymopoietins - genetics; X Chromosome - chemistry
• ISSN: 0278-0240; 1875-8630

X-linked Emery-Dreifuss muscular dystrophy (EMD) is a very rare, relatively benign muscle disorder. The disease is associated with potentially lethal cardiac arrhythmias in affected males and some heterozygous females. X-linked EMD can be genetically distinguished from phenotypically similar autosomal EMD. Heterogenic mutations are identified as the cause of X-linked EMD. We introduced heteroduplex analysis to follow the segregation of heterogenic emerin gene mutations in the families of six unrelated EMD patients. Heteroduplex analysis was proved to be a simple, fast and reliable tool for direct molecular genetic diagnosis of EMD in male patients and identification of heterozygotes even in families where affected males are not available as index cases.