biostudies-literatureWang XNational Natural Science Foundation of China978879https://www.ebi.ac.uk/biostudies/studies/S-EPMC10165073biostudies-literatureUnknown11Osteopetrosis is a genetic condition of the skeleton characterized by increased bone density caused by osteoclast formation and function defects. Osteopetrosis is inherited in the form of autosomal dominant and autosomal recessive manner. We report autosomal recessive osteopetrosis (ARO; OMIM 611490) in a Chinese case with a history of scarce leukocytosis, vision and hearing loss, frequent seizures, and severe intellectual and motor disability. Whole-exome sequencing (WES) followed by Sanger sequencing revealed novel compound heterozygous mutations in the chloride channel 7 (<i>CLCN7</i>) gene [c.982-1G > C and c.1208G > A (p. Arg403Gln)] in the affected individual, and subsequent familial segregation showed that each parent had transmitted a mutation. Our results confirmed that mutations Frontiers in pediatricsA novel compound heterozygous mutation of the <i>CLCN7</i> gene is associated with autosomal recessive osteopetrosis.PMC1016507381803256Qian JDing YFan YXu TWang XWang YfalseA novel compound heterozygous mutation of the <i>CLCN7</i> gene is associated with autosomal recessive osteopetrosis.Osteopetrosis is a genetic condition of the skeleton characterized by increased bone density caused by osteoclast formation and function defects. Osteopetrosis is inherited in the form of autosomal dominant and autosomal recessive manner. We report autosomal recessive osteopetrosis (ARO; OMIM 611490) in a Chinese case with a history of scarce leukocytosis, vision and hearing loss, frequent seizures, and severe intellectual and motor disability. Whole-exome sequencing (WES) followed by Sanger sequencing revealed novel compound heterozygous mutations in the chloride channel 7 (<i>CLCN7</i>) gene [c.982-1G > C and c.1208G > A (p. Arg403Gln)] in the affected individual, and subsequent familial segregation showed that each parent had transmitted a mutation. Our results confirmed that mutations 2023-01-01T00:00:00Z20232026-07-15T01:42:08.801Z2025-04-05T21:08:49.836ZS-EPMC101650733716880310.3389/fped.2023.978879