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Article

Application of next‑generation sequencing for molecular diagnosis in a large family with osteogenesis imperfecta type I

  • Authors:
    • Mengxia Ni
    • Hao Ding
    • Shuaimei Liu
    • Peiran Zhu
    • Qiuyue Wu
    • Weiwei Li
    • Jing Zhang
    • Weijun Jiang
    • Xinyi Xia
  • View Affiliations / Copyright

    Affiliations: Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine, Nanjing, Jiangsu 210002, P.R. China
  • Pages: 6846-6849
    |
    Published online on: September 7, 2017
       https://doi.org/10.3892/mmr.2017.7435
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Abstract

Increased bone fragility and low bone mass are common features of osteogenesis imperfecta (OI), which is associated with connective tissue. Its type is distinguished by clinical phenotypes and molecular genetics. Although fifteen types (I‑XV) of OI have been identified at present, the majority of patients are diagnosed as OI type I‑IV. Type I collagen is responsible for OI type I‑IV, consists of α1 (I) and α2 (I) chains and is encoded by COL1A1 and COL1A2. To identify the pathogenic gene of a large Chinese family with OI type I and explain genetic heterogeneity of the patients, next‑generation sequencing (NGS) was conducted in a female with OI type I and her affected niece and daughter to search for the mutation. Subsequently, it was confirmed in other family members by Sanger sequencing. Analysis of COL1A1 gene identified a splicing mutation (c.471+1G>A, also termed IVS5+1G>A) that converted the 5' end of intron 5 from GT to AT. The current study aimed to investigate why there are different phenotypes with the same mutation observed within the same OI pedigree, and the results suggested that there may be environmental factors involved. The present study provided genetic counseling and prenatal diagnosis for the family members, however additionally provided insight into the phenotype‑genotype association in OI.
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Copy and paste a formatted citation
Spandidos Publications style
Ni M, Ding H, Liu S, Zhu P, Wu Q, Li W, Zhang J, Jiang W and Xia X: Application of next‑generation sequencing for molecular diagnosis in a large family with osteogenesis imperfecta type I. Mol Med Rep 16: 6846-6849, 2017.
APA
Ni, M., Ding, H., Liu, S., Zhu, P., Wu, Q., Li, W. ... Xia, X. (2017). Application of next‑generation sequencing for molecular diagnosis in a large family with osteogenesis imperfecta type I. Molecular Medicine Reports, 16, 6846-6849. https://doi.org/10.3892/mmr.2017.7435
MLA
Ni, M., Ding, H., Liu, S., Zhu, P., Wu, Q., Li, W., Zhang, J., Jiang, W., Xia, X."Application of next‑generation sequencing for molecular diagnosis in a large family with osteogenesis imperfecta type I". Molecular Medicine Reports 16.5 (2017): 6846-6849.
Chicago
Ni, M., Ding, H., Liu, S., Zhu, P., Wu, Q., Li, W., Zhang, J., Jiang, W., Xia, X."Application of next‑generation sequencing for molecular diagnosis in a large family with osteogenesis imperfecta type I". Molecular Medicine Reports 16, no. 5 (2017): 6846-6849. https://doi.org/10.3892/mmr.2017.7435
Copy and paste a formatted citation
x
Spandidos Publications style
Ni M, Ding H, Liu S, Zhu P, Wu Q, Li W, Zhang J, Jiang W and Xia X: Application of next‑generation sequencing for molecular diagnosis in a large family with osteogenesis imperfecta type I. Mol Med Rep 16: 6846-6849, 2017.
APA
Ni, M., Ding, H., Liu, S., Zhu, P., Wu, Q., Li, W. ... Xia, X. (2017). Application of next‑generation sequencing for molecular diagnosis in a large family with osteogenesis imperfecta type I. Molecular Medicine Reports, 16, 6846-6849. https://doi.org/10.3892/mmr.2017.7435
MLA
Ni, M., Ding, H., Liu, S., Zhu, P., Wu, Q., Li, W., Zhang, J., Jiang, W., Xia, X."Application of next‑generation sequencing for molecular diagnosis in a large family with osteogenesis imperfecta type I". Molecular Medicine Reports 16.5 (2017): 6846-6849.
Chicago
Ni, M., Ding, H., Liu, S., Zhu, P., Wu, Q., Li, W., Zhang, J., Jiang, W., Xia, X."Application of next‑generation sequencing for molecular diagnosis in a large family with osteogenesis imperfecta type I". Molecular Medicine Reports 16, no. 5 (2017): 6846-6849. https://doi.org/10.3892/mmr.2017.7435
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