A Case of Autosomal Dominant Osteopetrosis Type II with a CLCN7 Gene Mutation
A Case of Autosomal Dominant Osteopetrosis Type II with a CLCN7 Gene Mutation
J Clin Res Pediatr Endocrinol. 2019 Feb 14;:
Authors: Kang S, Kang YK, Lee JA, Kim DH, Lim JS
Abstract
Osteopetrosis is a rare genetic disease characterized by increased bone density and bone breakage due to defective osteoclast function. Autosomal dominant osteopetrosis type II, 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 gene. The patient spine showed multiple sclerotic changes including sandwich vertebra. However, his father with same mutation showed normal skeleton radiographs.
PMID: 30759959 [PubMed - as supplied by publisher]
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research