Mutation Analysis Of DYSF Gene In A Chinese Family With Dysferlinopathy

Objective To explore the clinical phenotype and genotype in a Chinese family with myopathy.Methods Mutation analysis of DYSF gene was performed in a family with myopathy by polymerase chain reaction (PCR) and direct DNA sequencing.Results Genetic tests show that no variation of large fragments were detected in Duchenne muscular dystrophy (DMD) gene, however, a mutation (c.268C>T) of DYSF gene was found in the proband and other three family members. Another mutation (c.3214C>T) of DYSF gene was also found in the proband and other three family members.Conclusion Two mutations (c.268C>T and c.3214C>T) of DYSF gene were found in a Chinese family with Dysferlinopathy. this family with Dysferlinopathy is an autosomal recessive inheritance. Both point mutations played an important role in the occurrence of this disease.