ArticleJournal of bone and mineral metabolism2012
The virulence gene and clinical phenotypes of osteopetrosis in the Chinese population: six novel mutations of the CLCN7 gene in twelve osteopetrosis families.
Article in Journal of bone and mineral metabolism, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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13 citing papers in PubMed, 29 citations in OpenAlex.
- Structural basis of pH-dependent activation in a CLC transporter.Nature structural & molecular biology · 2024Article
- Metabolomics study of osteopetrosis caused byFrontiers in endocrinology · 2024Article
- Case report: Gene mutations and clinical characteristics of four patients with osteopetrosis.Frontiers in pediatrics · 2023Article
- Autosomal dominant osteopetrosis type II resulting from aWorld journal of clinical cases · 2022Article
- The Role of the Lysosomal ClCells · 2022Review
- Natural History of Type II Autosomal Dominant Osteopetrosis: A Single Center Retrospective Study.Frontiers in endocrinology · 2022Article
- Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis.Molecular genetics & genomic medicine · 2021Article
- Lessons Learned from Long-Term Management of Hip Fracture in Patients with Osteopetrosis: A Report of Nine Hips in Five Patients.Journal of bone metabolism · 2019Article
- Two novel mutations of CLCN7 gene in Chinese families with autosomal dominant osteopetrosis (type II).Journal of bone and mineral metabolism · 2016Article
- Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADO-II) and intermediate autosomal recessive osteopetrosis (IARO) in Chinese patients.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2016Article
- Enhanced but hypofunctional osteoclastogenesis in an autosomal dominant osteopetrosis type II case carrying a c.1856C>T mutation inBone research · 2016Article
- Novel CLCN7 mutation identified in a Han Chinese family with autosomal dominant osteopetrosis-2.Molecular pain · 2016Article
- Differentially expressed genes in autosomal dominant osteopetrosis type II osteoclasts reveal known and novel pathways for osteoclast biology.Laboratory investigation; a journal of technical methods and pathology · 2014Article
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Authors and funding
12 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Osteopetrosis is a heritable bone disorder resulting from a deficiency of or a functional defect in osteoclasts. We aimed to characterize the molecular defects and clinical manifestations in Chinese patients with osteopetrosis by studying 12 unrelated osteopetrosis families. The entire coding region and adjacent splice sites of the CLCN7, TCIRG1, LRP5 and SOST genes were amplified and directly sequenced. X-rays of hip and lumbar spine, bone mineral density and bone turnover markers were examined simultaneously. Family history and fracture history were collected using a questionnaire. Among 12 unrelated families, 10 families were diagnosed with autosomal dominant osteopetrosis type II (ADOII) with 10 probands and 3 affected subjects. Two individuals in the other two families were diagnosed with uncategorized osteopetrosis because no mutations were detected in any of the four studied genes. Eight mutations, including two reported mutations (R767W and E798FS) and six novel mutations (E313K, A316G, R743W, G741R, W127G and S290F), were detected in the CLCN7 gene from 12 living ADOII patients. Among them, R767W and R743W mutations were two common mutations that were each found in 20% of 10 ADOII probands. In CLCN7-related ADOII patients, long bone fractures and elevated serum CK level were two major clinical phenotypes, especially in patients younger than 18 years. Further functional studies of the above eight mutations in the CLCN7 gene are needed in the future.
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