PMID- 30112060
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20201001
IS  - 1792-0981 (Print)
IS  - 1792-1015 (Electronic)
IS  - 1792-0981 (Linking)
VI  - 16
IP  - 2
DP  - 2018 Aug
TI  - Infantile neuroaxonal dystrophy caused by PLA2G6 gene mutation in a Chinese 
      patient: A case report.
PG  - 1290-1294
LID - 10.3892/etm.2018.6347 [doi]
AB  - 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.
FAU - Wang, Baotian
AU  - Wang B
AD  - Department of Pediatrics, The First Affiliated Hospital of Anhui Medical 
      University, Hefei, Anhui 230022, P.R. China.
FAU - Wu, De
AU  - Wu D
AD  - Department of Pediatrics, The First Affiliated Hospital of Anhui Medical 
      University, Hefei, Anhui 230022, P.R. China.
FAU - Tang, Jiulai
AU  - Tang J
AD  - Department of Pediatrics, The First Affiliated Hospital of Anhui Medical 
      University, Hefei, Anhui 230022, P.R. China.
LA  - eng
PT  - Journal Article
DEP - 20180622
PL  - Greece
TA  - Exp Ther Med
JT  - Experimental and therapeutic medicine
JID - 101531947
PMC - PMC6090475
OTO - NOTNLM
OT  - PLA2G6
OT  - hearing loss
OT  - infantile neuroaxonal dystrophy
EDAT- 2018/08/17 06:00
MHDA- 2018/08/17 06:01
PMCR- 2018/06/22
CRDT- 2018/08/17 06:00
PHST- 2017/10/18 00:00 [received]
PHST- 2018/05/02 00:00 [accepted]
PHST- 2018/08/17 06:00 [entrez]
PHST- 2018/08/17 06:00 [pubmed]
PHST- 2018/08/17 06:01 [medline]
PHST- 2018/06/22 00:00 [pmc-release]
AID - ETM-0-0-6347 [pii]
AID - 10.3892/etm.2018.6347 [doi]
PST - ppublish
SO  - Exp Ther Med. 2018 Aug;16(2):1290-1294. doi: 10.3892/etm.2018.6347. Epub 2018 Jun 
      22.