PMID- 35911906
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220802
IS  - 1664-2295 (Print)
IS  - 1664-2295 (Electronic)
IS  - 1664-2295 (Linking)
VI  - 13
DP  - 2022
TI  - Novel PLA2G6 Pathogenic Variants in Chinese Patients With PLA2G6-Associated 
      Neurodegeneration.
PG  - 922528
LID - 10.3389/fneur.2022.922528 [doi]
LID - 922528
AB  - BACKGROUND: PLA2G6-associated neurodegeneration (PLAN) is a heterogeneous group 
      of neurodegenerative diseases caused by biallelic PLA2G6 mutations, covering 
      diseases such as infantile neuroaxonal dystrophy (INAD), atypical neuroaxonal 
      dystrophy (ANAD), dystonia parkinsonism (DP), and autosomal recessive early-onset 
      parkinsonism (AREP). The study aims to report the clinical and genetic features 
      of a series of PLAN patients. METHODS: The clinical and radiological findings of 
      five Chinese patients from three families were collected. Whole-exome next 
      generation sequencing (NGS) was applied to identify the genetic causes. 
      Co-segregation analysis of the detected candidate variants were performed in 
      their families. The pathogenicity of identified novel variants was predicted by 
      in silico analysis. RESULTS: NGS revealed compound heterozygous variants of 
      PLA2G6 gene in all five patients. There were six PLA2G6 variants identified, 
      including two known variants (c.116G>A, c.238G>A) and four novel variants 
      (c.2120dupA, c.2071C>G, c.967G>A, c1534T>A). ACMG predicts c.2120dupA to be 
      pathogenic, c.2071C>G and c.1534T>A to be likely pathogenic, and c1534T>A to be 
      of uncertain significance. Clinically, four patients fell into the diagnosis of 
      ANAD, and 1 into the diagnosis of AREP. Brain imaging revealed cerebellar 
      atrophy, iron deposition in bilateral globus pallidus, and substantia nigra in 
      three cases. CONCLUSIONS: Four novel pathogenic variants were discovered and the 
      pathogenic variant spectrum of the PLA2G6 gene was expanded.
CI  - Copyright (c) 2022 Wan, Jiang, Xie, Ling, Du, Li, Yuan, Wang, Sun and Jin.
FAU - Wan, Yalan
AU  - Wan Y
AD  - Department of Neurology, Peking University First Hospital, Beijing, China.
FAU - Jiang, Yanyan
AU  - Jiang Y
AD  - Department of Neurology, The First Affiliated Hospital of Zhengzhou University, 
      Zhengzhou, China.
FAU - Xie, Zhiying
AU  - Xie Z
AD  - Department of Neurology, Peking University First Hospital, Beijing, China.
FAU - Ling, Chen
AU  - Ling C
AD  - Department of Neurology, Peking University First Hospital, Beijing, China.
FAU - Du, Kang
AU  - Du K
AD  - Department of Neurology, Peking University First Hospital, Beijing, China.
FAU - Li, Ran
AU  - Li R
AD  - Department of Neurology, Huoguosi TCM Hospital Affiliated to Beijing University 
      of Chinese Medicine, Beijing, China.
FAU - Yuan, Yun
AU  - Yuan Y
AD  - Department of Neurology, Peking University First Hospital, Beijing, China.
FAU - Wang, Zhaoxia
AU  - Wang Z
AD  - Department of Neurology, Peking University First Hospital, Beijing, China.
FAU - Sun, Wei
AU  - Sun W
AD  - Department of Neurology, Peking University First Hospital, Beijing, China.
FAU - Jin, Haiqiang
AU  - Jin H
AD  - Department of Neurology, Peking University First Hospital, Beijing, China.
LA  - eng
PT  - Journal Article
DEP - 20220713
PL  - Switzerland
TA  - Front Neurol
JT  - Frontiers in neurology
JID - 101546899
PMC - PMC9327523
OTO - NOTNLM
OT  - PLA2G6 gene
OT  - atypical neuroaxonal dystrophy
OT  - iron deposition
OT  - neurogenetic
OT  - parkinsonism
COIS- The authors declare that the research was conducted in the absence of any 
      commercial or financial relationships that could be construed as a potential 
      conflict of interest.
EDAT- 2022/08/02 06:00
MHDA- 2022/08/02 06:01
PMCR- 2022/07/13
CRDT- 2022/08/01 03:53
PHST- 2022/04/18 00:00 [received]
PHST- 2022/06/20 00:00 [accepted]
PHST- 2022/08/01 03:53 [entrez]
PHST- 2022/08/02 06:00 [pubmed]
PHST- 2022/08/02 06:01 [medline]
PHST- 2022/07/13 00:00 [pmc-release]
AID - 10.3389/fneur.2022.922528 [doi]
PST - epublish
SO  - Front Neurol. 2022 Jul 13;13:922528. doi: 10.3389/fneur.2022.922528. eCollection 
      2022.