Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex

Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex

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 w...

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Main Authors: Kapoor, Saketh, Shah, Mohd Hussain, Singh, Nivedita, Rather, Mohammad Iqbal, Bhat, Vishwanath, Gopinath, Sindhura, Bindu, Parayil Sankaran, Taly, Arun B., Sinha, Sanjib, Nagappa, Madhu, Bharath, Rose Dawn, Mahadevan, Anita, Narayanappa, Gayathri, Chickabasaviah, Yasha T., Kumar, Arun
Format: Online
Language:English
Published: Public Library of Science 2016
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4873246/
id pubmed-4873246
recordtype oai_dc
spelling pubmed-48732462016-06-09 Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex Kapoor, Saketh Shah, Mohd Hussain Singh, Nivedita Rather, Mohammad Iqbal Bhat, Vishwanath Gopinath, Sindhura Bindu, Parayil Sankaran Taly, Arun B. Sinha, Sanjib Nagappa, Madhu Bharath, Rose Dawn Mahadevan, Anita Narayanappa, Gayathri Chickabasaviah, Yasha T. Kumar, Arun Research Article 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. Public Library of Science 2016-05-19 /pmc/articles/PMC4873246/ /pubmed/27196560 http://dx.doi.org/10.1371/journal.pone.0155605 Text en © 2016 Kapoor et al http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
repository_type Open Access Journal
institution_category Foreign Institution
institution US National Center for Biotechnology Information
building NCBI PubMed
collection Online Access
language English
format Online
author Kapoor, Saketh
Shah, Mohd Hussain
Singh, Nivedita
Rather, Mohammad Iqbal
Bhat, Vishwanath
Gopinath, Sindhura
Bindu, Parayil Sankaran
Taly, Arun B.
Sinha, Sanjib
Nagappa, Madhu
Bharath, Rose Dawn
Mahadevan, Anita
Narayanappa, Gayathri
Chickabasaviah, Yasha T.
Kumar, Arun
spellingShingle Kapoor, Saketh
Shah, Mohd Hussain
Singh, Nivedita
Rather, Mohammad Iqbal
Bhat, Vishwanath
Gopinath, Sindhura
Bindu, Parayil Sankaran
Taly, Arun B.
Sinha, Sanjib
Nagappa, Madhu
Bharath, Rose Dawn
Mahadevan, Anita
Narayanappa, Gayathri
Chickabasaviah, Yasha T.
Kumar, Arun
Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex
author_facet Kapoor, Saketh
Shah, Mohd Hussain
Singh, Nivedita
Rather, Mohammad Iqbal
Bhat, Vishwanath
Gopinath, Sindhura
Bindu, Parayil Sankaran
Taly, Arun B.
Sinha, Sanjib
Nagappa, Madhu
Bharath, Rose Dawn
Mahadevan, Anita
Narayanappa, Gayathri
Chickabasaviah, Yasha T.
Kumar, Arun
author_sort Kapoor, Saketh
title Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex
title_short Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex
title_full Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex
title_fullStr Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex
title_full_unstemmed Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex
title_sort genetic analysis of pla2g6 in 22 indian families with infantile neuroaxonal dystrophy, atypical late-onset neuroaxonal dystrophy and dystonia parkinsonism complex
description 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.
publisher Public Library of Science
publishDate 2016
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4873246/
_version_ 1613581716786511872

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