Role of DYSF Genetic Variant in Limb Girdle Muscular Dystrophy: A Case Report

Introduction: Muscular dystrophy is a hereditary degenerative muscle disease which progressively reduces the strength of muscles that control movement. In this study, we tried to investigate genetic variants in muscular using sequencing whole exons. Case Presentation: A family with two affected patients was referred for counseling followed by exome testing on proband. After filling out informed consent, blood samples were obtained from each available member. Candidate variant confirmed Sanger sequencing. Conclusions: Exome data analysis revealed c.2864 + 1G > proband, altered exon-intron 26 splice site within DYSF gene. Genetic changes gene are known be associated disorders, such as limb-girdle and other dysferlinopathies. Assessment patient's sister also showed homozygous variant. Since married her cousin, same tested husband, normal homozygous. NGS-based techniques, including whole-exome sequencing, can identify molecular basis families dystrophy. The results helpful identifying potential carriers prenatal diagnosis involved.