Background:
Limb-girdle muscular dystrophy (LGMD) is an increasingly heterogeneous category of inherited muscle diseases, mainly affecting the muscles of shoulder areas and the hip, segregating in both autosomal recessive and dominant manner. To-date, thirty-one loci have been identified for LGMD including seven autosomal dominant (LGMD type 1) and twenty four autosomal recessive (LGMD type 2) inherited loci. Methodology/Laboratory Examination: The present report describes a consanguineous family segregating
LGMD2F in an autosomal recessive pattern. The affected individual is an 11-year-old boy having two brothers and a sister. Direct targeted next generation sequencing was performed for the single affected individual (VI-1) followed by Sanger sequencing. Results: Targeted next generation sequencing revealed a novel homozygous
nonsense mutation (c.289C>T; p.Arg97∗) in the exon 3 of the
delta-sarcoglycan (SGCD) gene, that introduces a
premature stop codon (TCA), resulting in a nonsense mediated decay or a truncated
protein product. Discussion and Conclusion: This is the first report of
LGMD2F caused by an SGCD variant in a Pakistani population. The mutation identified in the present investigation extends the body of evidence implicating the gene SGCD in causing
LGMD2F and might help in genetic counseling, which is more important to deliver the risk of carrier or affected in the future pregnancies.