{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T13:50:25Z","timestamp":1768917025207,"version":"3.49.0"},"reference-count":24,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,4,10]],"date-time":"2025-04-10T00:00:00Z","timestamp":1744243200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:p>Osteopetrosis, also known as osteosclerosis and marble-bone disease, is a rare genetic metabolic bone disorder caused by the dysplasia or dysfunction of osteoclasts, usually caused by variants of chloride voltage-gated channel 7 (<jats:italic>CLCN7)<\/jats:italic> gene. We retrospectively analyzed the clinical data of two children with osteopetrosis and their families. Whole-exome sequencing (WES) was used for genetic analysis, and Sanger sequencing confirmed possible pathogenic variants. In family 1, the proband harbored a novel mutation c.2351G&amp;gt;C (p.R784T) in <jats:italic>CLCN7<\/jats:italic> gene. The initial symptom of proband 1 was a post-traumatic fracture, and imaging features was \u201csandwich cake\u201d -like changes. In family 2, the proband harbored previously reported compound heterozygous variants in <jats:italic>CLCN7<\/jats:italic> gene: c.899C&amp;gt;T (p.A300V) and c.1534G&amp;gt;A (p.G512R). Among them, c.1534G&amp;gt;A (p.G512R) was only recorded in clinvar and no reports of protein function prediction. The initial symptom of proband 2 was cough, and imaging features was \u201csandwich vertebrae\u201d. Our study expands the mutation spectrum of the <jats:italic>CLCN7<\/jats:italic> gene and provides new insights into the pathogenesis of osteopetrosis.<\/jats:p>","DOI":"10.3389\/fped.2025.1549961","type":"journal-article","created":{"date-parts":[[2025,4,10]],"date-time":"2025-04-10T15:30:51Z","timestamp":1744299051000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Identification of a novel mutation in the CLCN7 gene in pediatric osteopetrosis: case 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