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Case Report Open Access

Infantile neuroaxonal dystrophy caused by PLA2G6 gene mutation in a Chinese patient: A case report

  • Authors:
    • Baotian Wang
    • De Wu
    • Jiulai Tang
  • View Affiliations / Copyright

    Affiliations: Department of Pediatrics, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui 230022, P.R. China
    Copyright: © Wang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 1290-1294
    |
    Published online on: June 22, 2018
       https://doi.org/10.3892/etm.2018.6347
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Abstract

Infantile neuroaxonal dystrophy (INAD) is a rare neurodegenerative disorder. Phospholipase A2 group VI (PLA2G6) gene mutations have been identified in the majority of individuals with INAD. The present case report is on a Chinese female pediatric patient (age, 18 months) diagnosed with INAD with deafness. To date, only four cases of INAD with hearing loss have been reported, PLA2G6‑association has not been investigated. Next‑generation DNA sequencing technology was used to identify disease‑associated genes and Sanger sequencing was applied to verify the mutation in the patient's pedigree. Two mutations were identified in the PLA2G6 gene: c.1T>C (E2) and c.497 (E4) to c.496 (E4): Insert C. The distribution frequency of those mutations in the Single Nucleotide Polymorphism, HapMap, 1000 Genomes and Exome Aggregation Consortium databases was 0. However, cases of INAD appear to be underreported, particularly those from China. The identification of two mutations in the present study suggests unique PLA2G6 mutations in Chinese patients, and greatly expands on the spectrum of known mutations in INAD patients.
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Copy and paste a formatted citation
Spandidos Publications style
Wang B, Wu D and Tang J: Infantile neuroaxonal dystrophy caused by PLA2G6 gene mutation in a Chinese patient: A case report. Exp Ther Med 16: 1290-1294, 2018.
APA
Wang, B., Wu, D., & Tang, J. (2018). Infantile neuroaxonal dystrophy caused by PLA2G6 gene mutation in a Chinese patient: A case report. Experimental and Therapeutic Medicine, 16, 1290-1294. https://doi.org/10.3892/etm.2018.6347
MLA
Wang, B., Wu, D., Tang, J."Infantile neuroaxonal dystrophy caused by PLA2G6 gene mutation in a Chinese patient: A case report". Experimental and Therapeutic Medicine 16.2 (2018): 1290-1294.
Chicago
Wang, B., Wu, D., Tang, J."Infantile neuroaxonal dystrophy caused by PLA2G6 gene mutation in a Chinese patient: A case report". Experimental and Therapeutic Medicine 16, no. 2 (2018): 1290-1294. https://doi.org/10.3892/etm.2018.6347
Copy and paste a formatted citation
x
Spandidos Publications style
Wang B, Wu D and Tang J: Infantile neuroaxonal dystrophy caused by PLA2G6 gene mutation in a Chinese patient: A case report. Exp Ther Med 16: 1290-1294, 2018.
APA
Wang, B., Wu, D., & Tang, J. (2018). Infantile neuroaxonal dystrophy caused by PLA2G6 gene mutation in a Chinese patient: A case report. Experimental and Therapeutic Medicine, 16, 1290-1294. https://doi.org/10.3892/etm.2018.6347
MLA
Wang, B., Wu, D., Tang, J."Infantile neuroaxonal dystrophy caused by PLA2G6 gene mutation in a Chinese patient: A case report". Experimental and Therapeutic Medicine 16.2 (2018): 1290-1294.
Chicago
Wang, B., Wu, D., Tang, J."Infantile neuroaxonal dystrophy caused by PLA2G6 gene mutation in a Chinese patient: A case report". Experimental and Therapeutic Medicine 16, no. 2 (2018): 1290-1294. https://doi.org/10.3892/etm.2018.6347
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