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

JCRPE

Jun Ah Lee¹  Young Kyung Kang¹  Sol Kang¹  Dong Ho Kim¹  Jung Sub Lim¹ 

[1] Korea Cancer Center Hospital, Clinic of Pediatrics, Seoul, Republic of Korea;

关键词: osteopetrosis;    bone density;    osteoclast;    sclerosis;    mutation;   

DOI  :  10.4274/jcrpe.galenos.2019.2018.0229

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown