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ARO caused by homozygous (or compound heterozygous) mutations in <jats:italic>CLCN7<\/jats:italic>, as described here, is usually diagnosed at birth or early in infancy due to generalized osteosclerosis and severe hematologic deficits. The maximal life expectancy of patients with ARO in the absence of bone marrow transplantation is thought to be 10 years. We report on a 25\u2010year\u2010old Thai man who is affected with ARO. Clinical features include proportionate short stature, vision impairment, esotropia, exophthalmos, mild hearing loss, and hepatosplenomegaly. Pancytopenia was present and the patient had frequent illnesses. Radiographs showed generalized osteosclerosis with almost no visible of bone marrow spaces. Dense maxilla and mandible with impacted and malformed teeth were observed. Multiple fractures were reported. He developed osteomyelitis of the mandible on four separate occasions, and partial mandibulectomy was performed. Molecular studies showed that there were no pathogenic mutations in <jats:italic>TCIRG1<\/jats:italic>. However, mutation analysis of <jats:italic>CLCN7<\/jats:italic> revealed a homozygous missense mutation (p.Arg526Gln). This patient is, it appears, the longest lived individual with ARO ever reported. Evaluation of osteoclastogenesis in our patient demonstrated very large immature osteoclasts with a high number of nuclei. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35264","type":"journal-article","created":{"date-parts":[[2012,3,14]],"date-time":"2012-03-14T18:27:27Z","timestamp":1331749647000},"page":"909-916","source":"Crossref","is-referenced-by-count":14,"title":["Long\u2010term survival in infantile malignant autosomal recessive osteopetrosis secondary to homozygous p.Arg526Gln mutation in <i>CLCN7<\/i>"],"prefix":"10.1002","volume":"158A","author":[{"given":"Piranit 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