Background: Emery-Dreifuss muscular dystrophy, caused by mutations in genes such as emerin (EMD ) or lamin A/C (LMNA ), is a disorder affecting the joints, muscles, and heart, with a wide spectrum of patient phenotypes including muscle wasting and cardiac conduction defects.
Methods and results: Here we report a multi-generation family from the Hunan Province of China. Affected family members displayed an uncommon clinical presentation of serious cardiac conduction abnormalities at an early age and a high incidence of sudden cardiac death along with mild skeletal muscular atrophy and joint contracture. Clinical analysis of affected members provided evidence of X-linked recessive inheritance. Consequently, using Sanger sequencing of X chromosome exomes, we identified a novel duplication mutation (c.405dup/p.Asp136X) in the EMD  gene as the cause for the disease in this family. This variant is a novel mutation that has not been previously reported in Pubmed, Clinvar or other cases reported in the Human Gene Mutation Database.
Conclusion: Our finding expands the mutation spectrum of Emery-Dreifuss muscular dystrophy and provides a rationale for EMD  mutation testing in cases of X-linked inherited cardiac conduction disease and sudden cardiac death, even in those lacking pathognomonic neuromuscular features.
Keywords: Emery-Dreifuss muscular dystrophy, emerin, sudden cardiac death, cardiac conduction abnormalities, mutation