PMID- 27196560
OWN - NLM
STAT- MEDLINE
DCOM- 20170718
LR  - 20221207
IS  - 1932-6203 (Electronic)
IS  - 1932-6203 (Linking)
VI  - 11
IP  - 5
DP  - 2016
TI  - Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal 
      Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism 
      Complex.
PG  - e0155605
LID - 10.1371/journal.pone.0155605 [doi]
LID - e0155605
AB  - Mutations in PLA2G6 were identified in patients with a spectrum of 
      neurodegenerative conditions, such as infantile neuroaxonal dystrophy (INAD), 
      atypical late-onset neuroaxonal dystrophy (ANAD) and dystonia parkinsonism 
      complex (DPC). However, there is no report on the genetic analysis of families 
      with members affected with INAD, ANAD and DPC from India. Therefore, the main aim 
      of this study was to perform genetic analysis of 22 Indian families with INAD, 
      ANAD and DPC. DNA sequence analysis of the entire coding region of PLA2G6 
      identified 13 different mutations, including five novel ones (p.Leu224Pro, 
      p.Asp283Asn, p.Arg329Cys, p.Leu491Phe, and p.Arg649His), in 12/22 (54.55%) 
      families with INAD and ANAD. Interestingly, one patient with INAD was homozygous 
      for two different mutations, p.Leu491Phe and p.Ala516Val, and thus harboured four 
      mutant alleles. With these mutations, the total number of mutations in this gene 
      reaches 129. The absence of mutations in 10/22 (45.45%) families suggests that 
      the mutations could be in deep intronic or promoter regions of this gene or these 
      families could have mutations in a yet to be identified gene. The present study 
      increases the mutation landscape of PLA2G6. The present finding will be useful 
      for genetic diagnosis, carrier detection and genetic counselling to families 
      included in this study and other families with similar disease condition.
FAU - Kapoor, Saketh
AU  - Kapoor S
AD  - Department of Molecular Reproduction, Development and Genetics, Indian Institute 
      of Science, Bangalore, 560012, India.
FAU - Shah, Mohd Hussain
AU  - Shah MH
AD  - Department of Molecular Reproduction, Development and Genetics, Indian Institute 
      of Science, Bangalore, 560012, India.
FAU - Singh, Nivedita
AU  - Singh N
AD  - Department of Molecular Reproduction, Development and Genetics, Indian Institute 
      of Science, Bangalore, 560012, India.
FAU - Rather, Mohammad Iqbal
AU  - Rather MI
AD  - Department of Molecular Reproduction, Development and Genetics, Indian Institute 
      of Science, Bangalore, 560012, India.
FAU - Bhat, Vishwanath
AU  - Bhat V
AD  - Department of Molecular Reproduction, Development and Genetics, Indian Institute 
      of Science, Bangalore, 560012, India.
FAU - Gopinath, Sindhura
AU  - Gopinath S
AD  - Department of Biotechnology, R.V. College of Engineering, Bangalore, 560059, 
      India.
FAU - Bindu, Parayil Sankaran
AU  - Bindu PS
AD  - Department of Neurology, National Institute of Mental Health and Neuro Sciences, 
      Bangalore, 560029, India.
FAU - Taly, Arun B
AU  - Taly AB
AD  - Department of Neurology, National Institute of Mental Health and Neuro Sciences, 
      Bangalore, 560029, India.
FAU - Sinha, Sanjib
AU  - Sinha S
AD  - Department of Neurology, National Institute of Mental Health and Neuro Sciences, 
      Bangalore, 560029, India.
FAU - Nagappa, Madhu
AU  - Nagappa M
AD  - Department of Neurology, National Institute of Mental Health and Neuro Sciences, 
      Bangalore, 560029, India.
FAU - Bharath, Rose Dawn
AU  - Bharath RD
AD  - Department of Neuroimaging and Interventional Radiology, National Institute of 
      Mental Health and Neuro Sciences, Bangalore, 560029, India.
FAU - Mahadevan, Anita
AU  - Mahadevan A
AD  - Department of Neuropathology, National Institute of Mental Health and Neuro 
      Sciences, Bangalore, 560029, India.
FAU - Narayanappa, Gayathri
AU  - Narayanappa G
AD  - Department of Neuropathology, National Institute of Mental Health and Neuro 
      Sciences, Bangalore, 560029, India.
FAU - Chickabasaviah, Yasha T
AU  - Chickabasaviah YT
AD  - Department of Neuropathology, National Institute of Mental Health and Neuro 
      Sciences, Bangalore, 560029, India.
FAU - Kumar, Arun
AU  - Kumar A
AD  - Department of Molecular Reproduction, Development and Genetics, Indian Institute 
      of Science, Bangalore, 560012, India.
LA  - eng
PT  - Journal Article
DEP - 20160519
PL  - United States
TA  - PLoS One
JT  - PloS one
JID - 101285081
RN  - EC 3.1.1.4 (Group VI Phospholipases A2)
RN  - EC 3.1.1.4 (PLA2G6 protein, human)
RN  - NBIA2B
SB  - IM
MH  - Alleles
MH  - Asian People/genetics
MH  - Dystonia/*genetics
MH  - Dystonic Disorders/genetics
MH  - Exons
MH  - Family Health
MH  - Female
MH  - Genetic Predisposition to Disease
MH  - Genetic Testing
MH  - Group VI Phospholipases A2/*genetics
MH  - Homozygote
MH  - Humans
MH  - India
MH  - Iron Metabolism Disorders/*genetics
MH  - Magnetic Resonance Imaging
MH  - Male
MH  - Mutation
MH  - Neuroaxonal Dystrophies/*genetics
MH  - Neurodegenerative Diseases/genetics
MH  - Parkinsonian Disorders/*genetics
PMC - PMC4873246
COIS- Competing Interests: The authors have declared that no competing interests exist.
EDAT- 2016/05/20 06:00
MHDA- 2017/07/19 06:00
PMCR- 2016/05/19
CRDT- 2016/05/20 06:00
PHST- 2015/10/29 00:00 [received]
PHST- 2016/05/02 00:00 [accepted]
PHST- 2016/05/20 06:00 [entrez]
PHST- 2016/05/20 06:00 [pubmed]
PHST- 2017/07/19 06:00 [medline]
PHST- 2016/05/19 00:00 [pmc-release]
AID - PONE-D-15-47203 [pii]
AID - 10.1371/journal.pone.0155605 [doi]
PST - epublish
SO  - PLoS One. 2016 May 19;11(5):e0155605. doi: 10.1371/journal.pone.0155605. 
      eCollection 2016.