Novel CLCN7 mutations cause autosomal dominant osteopetrosis type II and intermediate autosomal recessive osteopetrosis

  • Authors:
    • Li Li
    • Shan-Shan Lv
    • Chun Wang
    • Hua Yue
    • Zhen-Lin Zhang
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  • Published online on: April 3, 2019     https://doi.org/10.3892/mmr.2019.10123
  • Pages: 5030-5038
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Abstract

Osteopetrosis refers to a group of rare genetic bone diseases that are clinically characterized by increased bone mass and fragility. The principal pathogenic defect in patients with chloride channel 7 (CLCN7) gene‑dependent osteopetrosis is reduced osteoclast activity, which leads to decreased bone resorption. Mutations in the CLCN7 gene result in autosomal dominant osteopetrosis type II (ADO‑II), autosomal recessive osteopetrosis (ARO) and intermediate ARO (IARO). In the present study, eight mutations in the CLCN7 gene were identified in six patients with familial osteopetrosis and one patient with sporadic osteopetrosis. Heterozygous mutations c.856C>T (R286W), c.2236T>G (Y746D), c.296A>G (Y99C) and c.937G>A (E313K), and a splice mutation (c.2232‑2A>G) in the CLCN7 gene were detected in patients with ADO‑II. A homozygous mutation c.2377G>C (G793R), and a compound heterozygous mutation c.1409C>T (P470L) and c.647_648dupTG (K217X) were detected in two Chinese families with IARO. Among these mutations, two heterozygous mutations (c.2236T>G and c.2232‑2A>G), one homozygous mutation (c.2377G>C) and the compound heterozygous mutation (c.1409C>T and c.647_648dupTG) are novel, to the best of our knowledge. The present findings not only broaden the allelic spectrum of CLCN7 mutations, but also provide increased knowledge of the clinical phenotypes observed in Chinese patients with osteopetrosis.
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June 2019
Volume 19 Issue 6

Print ISSN: 1791-2997
Online ISSN:1791-3004

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APA
Li, L., Lv, S., Wang, C., Yue, H., & Zhang, Z. (2019). Novel CLCN7 mutations cause autosomal dominant osteopetrosis type II and intermediate autosomal recessive osteopetrosis. Molecular Medicine Reports, 19, 5030-5038. https://doi.org/10.3892/mmr.2019.10123
MLA
Li, L., Lv, S., Wang, C., Yue, H., Zhang, Z."Novel CLCN7 mutations cause autosomal dominant osteopetrosis type II and intermediate autosomal recessive osteopetrosis". Molecular Medicine Reports 19.6 (2019): 5030-5038.
Chicago
Li, L., Lv, S., Wang, C., Yue, H., Zhang, Z."Novel CLCN7 mutations cause autosomal dominant osteopetrosis type II and intermediate autosomal recessive osteopetrosis". Molecular Medicine Reports 19, no. 6 (2019): 5030-5038. https://doi.org/10.3892/mmr.2019.10123