Presence of emerinopathy in cases of rigid spine syndrome

Rigid spine syndrome (RSS) shows clinical similarities to Emery-Dreifuss muscular dystrophy (EDMD). Differential diagnosis between EDMD and RSS is essential because EDMD is often associated with life-threatening cardiomyopathy that can be cured by an implantation of a cardiac pacemaker. To determine if any of the patients with RSS had mutations of the emerin gene (responsible gene for X-linked EDMD or emerinopathy), we screened the patients for mutations. We found seven patients with a clinical picture consistent with RSS in the 6500 diagnostic muscle biopsies in our National Center over the last 19 years. We identified a novel mutation in the gene (1-bp frame-shift deletion in the exon 1) in one of the seven patients with RSS. This mutation created a premature termination at codon 12 and was expected to produce a severely truncated emerin. Emerin was not detected in the skeletal muscle. The unaffected mother of the patient was a heterozygous carrier for the mutation. The remaining six patients with RSS had no mutation in the gene and showed normal expression of emerin in the skeletal muscle. Our results emphasize the presence of clinical overlap between possible RSS and EDMD, and reinforce the necessity of molecular genetic diagnosis of emerin to exclude emerinopathy in a patient population that has a clinical diagnosis of RSS.