A Case of Autosomal Dominant Osteopetrosis Type 2 with a CLCN7 Gene Mutation

J Clin Res Pediatr Endocrinol. 2019 Nov 22;11(4):439-443. doi: 10.4274/jcrpe.galenos.2019.2018.0229. Epub 2019 Feb 14.


Osteopetrosis is a rare genetic disease characterized by increased bone density and bone fractures due to defective osteoclast function. Autosomal dominant osteopetrosis type 2 (ADO-2), Albers-Schonberg disease, is characterized by the sclerosis of bones, predominantly involving the spine, pelvis and the base of the skull. Here, we report a typical case of osteopetrosis in a 17.7-year-old male who carries a heterozygous c.746C>T mutation in exon 9 in the chloride voltage-gated channel 7 (CLCN7) gene. The patient’s spine showed multiple sclerotic changes including sandwich vertebra. His father had the same mutation but his skeletal radiographs were normal. This is the first reported case of ADO-2, confirmed by genetic testing in a Korean patient.

Keywords: Osteopetrosis; bone density; osteoclast; sclerosis; mutation.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Chloride Channels / genetics*
  • Genetic Predisposition to Disease
  • Heterozygote
  • Humans
  • Male
  • Mutation*
  • Osteogenesis / genetics*
  • Osteopetrosis / diagnostic imaging
  • Osteopetrosis / genetics*
  • Osteopetrosis / physiopathology
  • Pelvic Bones / diagnostic imaging
  • Pelvic Bones / physiopathology*
  • Phenotype
  • Skull Base / diagnostic imaging
  • Skull Base / physiopathology*
  • Spine / diagnostic imaging
  • Spine / physiopathology*


  • CLCN7 protein, human
  • Chloride Channels