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A novel variant of osteogenesis imperfecta type IV and low serum phosphorus level caused by a Val94Asp mutation in COL1A1

  • Authors:
    • Qi Yang
    • Hong Xu
    • Jinsi Luo
    • Qinle Zhang
    • Bobo Xie
    • Sheng Yi
    • Xiuliang Rong
    • Jin Wang
    • Zailong Qin
    • Tingting Jiang
    • Li Lin
    • Yangjin Zuo
    • Xin Fan
  • View Affiliations / Copyright

    Affiliations: Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, Nanning, Guangxi 530023, P.R. China, Nanning Region Center for Disease Prevention and Control, Nanning, Guangxi 530023, P.R. China
    Copyright: © Yang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 4433-4439
    |
    Published online on: January 16, 2018
       https://doi.org/10.3892/mmr.2018.8436
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Abstract

Osteogenesis imperfecta (OI) is a rare congenital disorder characterized by bone fragility and fractures, and associated with bone deformity, short stature, dentin, ligament and blue‑gray eye sclera. OI is caused by a heterozygous mutation in collagen α‑1(I) chain (COL1A1) or collagen α‑2(I) chain (COL1A2) genes that encode α chains of type I collagen. Collagen α chain peptide contains an N‑propeptide, which has a role in assembly and processing of collagen. Point mutations in the N‑propeptide domain appear to trigger OI. In the present study, a novel heterozygous missense mutation, c.281T>A (p.Val94Asp), was identified in the von Willebrand C domain of N‑terminal of type I collagen in an individual with type IV OI. The majority of N‑terminal mutations are associated with OI/Ehlers‑Danlos syndrome (EDS); however, in the present study, the affected individual did not suffer from EDS and the level of serum phosphorus of the patient was low (0.67 mmol/l). A number of clinical phenotypes were observed at the same variation site or in the same region on the polypeptide chain of COL1A, which suggests that additional genetic and environmental factors may influence the severity of OI. The present study may provide insight into the phenotype‑genotype association in collagen-associated diseases and improve clinical diagnosis of OI.
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Copy and paste a formatted citation
Spandidos Publications style
Yang Q, Xu H, Luo J, Zhang Q, Xie B, Yi S, Rong X, Wang J, Qin Z, Jiang T, Jiang T, et al: A novel variant of osteogenesis imperfecta type IV and low serum phosphorus level caused by a Val94Asp mutation in COL1A1. Mol Med Rep 17: 4433-4439, 2018.
APA
Yang, Q., Xu, H., Luo, J., Zhang, Q., Xie, B., Yi, S. ... Fan, X. (2018). A novel variant of osteogenesis imperfecta type IV and low serum phosphorus level caused by a Val94Asp mutation in COL1A1. Molecular Medicine Reports, 17, 4433-4439. https://doi.org/10.3892/mmr.2018.8436
MLA
Yang, Q., Xu, H., Luo, J., Zhang, Q., Xie, B., Yi, S., Rong, X., Wang, J., Qin, Z., Jiang, T., Lin, L., Zuo, Y., Fan, X."A novel variant of osteogenesis imperfecta type IV and low serum phosphorus level caused by a Val94Asp mutation in COL1A1". Molecular Medicine Reports 17.3 (2018): 4433-4439.
Chicago
Yang, Q., Xu, H., Luo, J., Zhang, Q., Xie, B., Yi, S., Rong, X., Wang, J., Qin, Z., Jiang, T., Lin, L., Zuo, Y., Fan, X."A novel variant of osteogenesis imperfecta type IV and low serum phosphorus level caused by a Val94Asp mutation in COL1A1". Molecular Medicine Reports 17, no. 3 (2018): 4433-4439. https://doi.org/10.3892/mmr.2018.8436
Copy and paste a formatted citation
x
Spandidos Publications style
Yang Q, Xu H, Luo J, Zhang Q, Xie B, Yi S, Rong X, Wang J, Qin Z, Jiang T, Jiang T, et al: A novel variant of osteogenesis imperfecta type IV and low serum phosphorus level caused by a Val94Asp mutation in COL1A1. Mol Med Rep 17: 4433-4439, 2018.
APA
Yang, Q., Xu, H., Luo, J., Zhang, Q., Xie, B., Yi, S. ... Fan, X. (2018). A novel variant of osteogenesis imperfecta type IV and low serum phosphorus level caused by a Val94Asp mutation in COL1A1. Molecular Medicine Reports, 17, 4433-4439. https://doi.org/10.3892/mmr.2018.8436
MLA
Yang, Q., Xu, H., Luo, J., Zhang, Q., Xie, B., Yi, S., Rong, X., Wang, J., Qin, Z., Jiang, T., Lin, L., Zuo, Y., Fan, X."A novel variant of osteogenesis imperfecta type IV and low serum phosphorus level caused by a Val94Asp mutation in COL1A1". Molecular Medicine Reports 17.3 (2018): 4433-4439.
Chicago
Yang, Q., Xu, H., Luo, J., Zhang, Q., Xie, B., Yi, S., Rong, X., Wang, J., Qin, Z., Jiang, T., Lin, L., Zuo, Y., Fan, X."A novel variant of osteogenesis imperfecta type IV and low serum phosphorus level caused by a Val94Asp mutation in COL1A1". Molecular Medicine Reports 17, no. 3 (2018): 4433-4439. https://doi.org/10.3892/mmr.2018.8436
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