Open Access

Targeted next‑generation sequencing reveals two novel mutations of NBAS in a patient with infantile liver failure syndrome‑2

  • Authors:
    • Jiao Wang
    • Zhongji Pu
    • Zhenhua Lu
  • View Affiliations

  • Published online on: November 29, 2017     https://doi.org/10.3892/mmr.2017.8191
  • Pages: 2245-2250
  • Copyright: © Wang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Mutations in neuroblastoma amplified sequence (NBAS) cause infantile liver failure syndrome-2 (ILFS2). NBAS is a protein involved in Golgi‑to‑endoplasmic reticulum retrograde transport. Exon capture in combination with high‑throughput sequencing was used to detect NBAS mutations. Via targeted sequencing, two causative mutations were identified from 358 selected genes associated with growth and development diseases; one was a missense mutation, c.3596G>A (p.C1199Y), detected in the coding region of NBAS (NM_015909.3), and the other a splice site mutation, c.209+1G>A. Both of these were heterozygous. The SEC39 structure of the wild‑type NBAS protein was compared with a model of the mutated protein. The overall structure of the SEC39 after mutation did not change; however, steric hindrance did increase. In conclusion, two novel NBAS mutations were identified in a 4‑year‑old Chinese girl with ILFS2.
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February-2018
Volume 17 Issue 2

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

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Spandidos Publications style
Wang J, Pu Z and Lu Z: Targeted next‑generation sequencing reveals two novel mutations of NBAS in a patient with infantile liver failure syndrome‑2. Mol Med Rep 17: 2245-2250, 2018
APA
Wang, J., Pu, Z., & Lu, Z. (2018). Targeted next‑generation sequencing reveals two novel mutations of NBAS in a patient with infantile liver failure syndrome‑2. Molecular Medicine Reports, 17, 2245-2250. https://doi.org/10.3892/mmr.2017.8191
MLA
Wang, J., Pu, Z., Lu, Z."Targeted next‑generation sequencing reveals two novel mutations of NBAS in a patient with infantile liver failure syndrome‑2". Molecular Medicine Reports 17.2 (2018): 2245-2250.
Chicago
Wang, J., Pu, Z., Lu, Z."Targeted next‑generation sequencing reveals two novel mutations of NBAS in a patient with infantile liver failure syndrome‑2". Molecular Medicine Reports 17, no. 2 (2018): 2245-2250. https://doi.org/10.3892/mmr.2017.8191