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

Wang,Baotian; Wu,De; Tang,Jiulai

doi:10.3892/etm.2018.6347

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

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

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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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