Partial Deletion of EMD Gene in a Patient With Emery-Dreifuss Muscular Dystrophy

Abstract

Introduction. Emery-Dreifuss muscular dystrophy (EDMD) is a genetic disease that can be inherited as autosomal dominant, autosomal recessive or X-linked form. The recessive X-linked form of EDMD is caused by mutations in the EMD gene. Methods. Immunohistochemistry of muscle biopsy of the patient with specific antibodies for dystrophin, sarcoglycans and emerin. DNA analysis of the patient and his relatives include homemade Multiplex Ligation-dependent Probe Amplification (MLPA) analysis, Extended Polymerase Chain Reaction (Long PCR) and DNA sequencing. Results. We present a case of a 16-year-old male patient with pacemaker implantation due to atrioventricular block. Muscle biopsy showed immunohistochemistry pattern negative for emerin. DNA analysis showed a deletion of 2640 bp expanding from the 5’ region, including the 5’-UTR and exon 1 and part of exon 2 of EMD gene. The new mutation is the fifth large deletion reported in the EMD gene and is associated to early cardiac symptoms.




J Neurol Res. 2012;2(3):115-118
doi: https://doi.org/10.4021/jnr107w