In summary, we identified a novel mutation c.2351G>C (p.R784T), coupled with protein function model prediction and homology analysis for two other variants already reported in the clinvar database [c.899C>T (p.A300V) and c.1534G>A (p.G512R)]in CLCN7 gene, which expanding the mutation spectrum linked to this condition and enhancing our understanding of CLCN7–related osteopetrosis. Here, CLCN7 is linked to osteopetrosis.