Limb-girdle muscular dystrophies (LGMDs) represent a varied group of genetic disorders characterised by the progressive weakening and atrophy of proximal muscles, particularly those in the shoulders and hips. These conditions are inherited in either an autosomal dominant or recessive pattern, with numerous genes implicated in their pathogenesis. Clinically, LGMDs are marked by a gradual decline in muscle function, often resulting in significant mobility impairments. In this study, we identify and characterise a novel homozygous deletion mutation, c. 572₅74delTAA, in the SGCD gene in a consanguineous Iranian family affected by LGMD2F. The patient, a 10. 5-year-old boy, exhibited progressive muscle weakness alongside specific clinical features such as contractures and scoliosis. Genetic analysis revealed that this deletion caused a p. Leu191del alteration in the δ-sarcoglycan protein. The mutation was confirmed via Sanger sequencing and found to co-segregate with the disease phenotype within the family. These findings provide new insights into the genetic basis of LGMD2F, underscoring the critical role of comprehensive genetic analysis for accurate diagnosis and management. This study contributes to the broader understanding of the genetic diversity of LGMDs and highlights the need for ongoing research to enhance diagnostic and therapeutic approaches.
Sakhaei et al. (Tue,) studied this question.