ArticleOsteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA2016
Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADO-II) and intermediate autosomal recessive osteopetrosis (IARO) in Chinese patients.
Article in Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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16 citing papers in PubMed, 26 citations in OpenAlex.
- The orthopaedic management of osteopetrosis in paediatric populations: a narrative review of the literature.Frontiers in pediatrics · 2026Review
- Clinical and genetic diagnosis of autosomal dominant osteopetrosis type II in a Chinese family: A case report.World journal of clinical cases · 2023Article
- The Role of the Lysosomal ClCells · 2022Review
- Natural History of Type II Autosomal Dominant Osteopetrosis: A Single Center Retrospective Study.Frontiers in endocrinology · 2022Article
- Molecular insights into the human CLC-7/Ostm1 transporter.Science advances · 2020Article
- Successful total hip arthroplasty for autosomal dominant osteopetrosis complicated by hip osteoarthritis: A case report and review of the literature.Experimental and therapeutic medicine · 2020Article
- A Novel Variant inFrontiers in cell and developmental biology · 2020Article
- Subtrochanteric Femoral Fracture in a Patient with Osteopetrosis: Treated with Internal Fixation and Complicated by Intraoperative Femoral Neck Fracture.International journal of general medicine · 2020Article
- Genotyping, generation and proteomic profiling of the first human autosomal dominant osteopetrosis type II-specific induced pluripotent stem cells.Stem cell research & therapy · 2019Article
- ClC-7 Regulates the Pattern and Early Development of Craniofacial Bone and Tooth.Theranostics · 2019Article
- One Disease, Many Genes: Implications for the Treatment of Osteopetroses.Frontiers in endocrinology · 2019Review
- Genetic Analysis ofEndocrinology and metabolism (Seoul, Korea) · 2018Article
- Genetics of Osteopetrosis.Current osteoporosis reports · 2018Review
- NovelHuman genome variation · 2017Article
- 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
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11 authors at 5 institutions in 2 countries.
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Abstract
summaryOsteopetrosis is a group of genetic bone disorders. Mutations in the chloride channel 7 gene (CLCN7) lead to chloride channel defect, which results in autosomal dominant osteopetrosis type II (ADO-II), autosomal recessive osteopetrosis (ARO), and intermediate autosomal recessive osteopetrosis (IARO). In the present study, we identified seven novel mutations of the CLCN7 gene and reported the first case of IARO with compound heterozygous mutation in Chinese population.
introductionOsteopetrosis is a heritable bone disorder due to the deficiency of or function defect in osteoclasts. Mutations in the CLCN7 lead to chloride channel defects, which result in osteopetrosis with diverse severity ranging from asymptomatic or relatively mild symptoms in ADO-II to the very severe phenotype in ARO. Heterozygous mutations in CLCN7 are associated to ADO-II, while homozygous and compound heterozygous mutations in CLCN7 may result in ARO and IARO. To date, a total of 24 mutations in CLCN7 were identified in ADO-II, and only 3 mutations were identified in IARO. In the present study, we reported seven unrelated ADO-II patients and one IARO patient from Chinese population and elucidated the characteristics of CLCN7 gene mutations in these patients.
methodsAll 25 CLCN7 exons and exon-intron boundaries from genomic DNA were amplified and sequenced in eight affected individuals suffering from ADO-II/IARO. The clinical, biochemical, and radiographic analysis were evaluated to compare the differences between ADO-II and IARO both in genotype and phenotype.
resultsThe results showed that there were seven novel CLCN7 mutations identified in these ADO-II/IARO patients, including six heterozygous missense mutations (p.L224R, p.S290Y, p.R326G, p.G347R, p.S473N, and p.L564P) and a novel splice mutation (p.K691FS).
conclusionsThe compound heterozygous mutations (p.L224R and p.K691FS) were firstly observed in one IARO patient. The present study would enrich the database of CLCN7 mutations and improve our understanding of this heritable bone disorder.
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