Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families

Background Recessive mutations in PLA2G6 have been associated with different neurodegenerative disorders, including infantile neuroaxonal dystrophy, neurodegeneration with brain iron accumulation and more recently, early-onset dystonia parkinsonism. Method Targeted-next generation sequencing using a...

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Published in	BMC research notes Vol. 9; no. 1; p. 295
Main Authors	Bohlega, Saeed A., Al-Mubarak, Bashayer R., Alyemni, Eman A., Abouelhoda, Mohamed, Monies, Dorota, Mustafa, Abeer E., Khalil, Dania S., Al Haibi, Sara, Abou Al-Shaar, Hussam, Faquih, Tariq, El-Kalioby, Mohamed, Tahir, Asma I., Al Tassan, Nada A.
Format	Journal Article
Language	English
Published	London BioMed Central 07.06.2016 BioMed Central Ltd
Subjects	Adult Biomedical and Life Sciences Biomedicine Brain research Degeneration Dopamine Ethics Experiments Families & family life Family Health Female Funding Genetic aspects Genetic disorders Genetic Heterogeneity Genetics Genomes Genotype Group VI Phospholipases A2 - genetics Haplotypes High-Throughput Nucleotide Sequencing Homozygote Humans Iron Life Sciences Male Medicine/Public Health Mutation Mutation, Missense Nervous system Neurodegeneration NMR Nuclear magnetic resonance Oxidative stress Parkinson's disease Parkinsonian Disorders - genetics Parkinsonian Disorders - pathology Pedigree Research Article Research centers Saudi Arabia Tomography Saudi Arabia Parkinsonism Saudi patients PLA2G6
Online Access	Get full text
ISSN	1756-0500 1756-0500
DOI	10.1186/s13104-016-2102-7

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Abstract	Background Recessive mutations in PLA2G6 have been associated with different neurodegenerative disorders, including infantile neuroaxonal dystrophy, neurodegeneration with brain iron accumulation and more recently, early-onset dystonia parkinsonism. Method Targeted-next generation sequencing using a custom Neurology panel, containing 758 OMIM-listed genes implicated in neurological disorders, was carried out in two index cases from two different Saudi families displaying early-onset levodopa-responsive Parkinsonism with pyramidal signs and additional clinical features. The detected mutations were verified in the index cases and available family members by direct sequencing. Results and conclusion We identified a previously described PLA2G6 homozygous p.R741Q mutation in three affected and two asymptomatic individuals from two Saudi families. Our finding reinforces the notion of the broadness of the clinical spectrum of PLA2G6 -related neurodegeneration.
AbstractList	Background Recessive mutations in PLA2G6 have been associated with different neurodegenerative disorders, including infantile neuroaxonal dystrophy, neurodegeneration with brain iron accumulation and more recently, early-onset dystonia parkinsonism. Method Targeted-next generation sequencing using a custom Neurology panel, containing 758 OMIM-listed genes implicated in neurological disorders, was carried out in two index cases from two different Saudi families displaying early-onset levodopa-responsive Parkinsonism with pyramidal signs and additional clinical features. The detected mutations were verified in the index cases and available family members by direct sequencing. Results and conclusion We identified a previously described PLA2G6 homozygous p.R741Q mutation in three affected and two asymptomatic individuals from two Saudi families. Our finding reinforces the notion of the broadness of the clinical spectrum of PLA2G6 -related neurodegeneration. Recessive mutations in PLA2G6 have been associated with different neurodegenerative disorders, including infantile neuroaxonal dystrophy, neurodegeneration with brain iron accumulation and more recently, early-onset dystonia parkinsonism. Targeted-next generation sequencing using a custom Neurology panel, containing 758 OMIM-listed genes implicated in neurological disorders, was carried out in two index cases from two different Saudi families displaying early-onset levodopa-responsive Parkinsonism with pyramidal signs and additional clinical features. The detected mutations were verified in the index cases and available family members by direct sequencing. We identified a previously described PLA2G6 homozygous p.R741Q mutation in three affected and two asymptomatic individuals from two Saudi families. Our finding reinforces the notion of the broadness of the clinical spectrum of PLA2G6-related neurodegeneration. Recessive mutations in PLA2G6 have been associated with different neurodegenerative disorders, including infantile neuroaxonal dystrophy, neurodegeneration with brain iron accumulation and more recently, early-onset dystonia parkinsonism. Targeted-next generation sequencing using a custom Neurology panel, containing 758 OMIM-listed genes implicated in neurological disorders, was carried out in two index cases from two different Saudi families displaying early-onset levodopa-responsive Parkinsonism with pyramidal signs and additional clinical features. The detected mutations were verified in the index cases and available family members by direct sequencing. We identified a previously described PLA2G6 homozygous p.R741Q mutation in three affected and two asymptomatic individuals from two Saudi families. Our finding reinforces the notion of the broadness of the clinical spectrum of PLA2G6-related neurodegeneration. Recessive mutations in PLA2G6 have been associated with different neurodegenerative disorders, including infantile neuroaxonal dystrophy, neurodegeneration with brain iron accumulation and more recently, early-onset dystonia parkinsonism.BACKGROUNDRecessive mutations in PLA2G6 have been associated with different neurodegenerative disorders, including infantile neuroaxonal dystrophy, neurodegeneration with brain iron accumulation and more recently, early-onset dystonia parkinsonism.Targeted-next generation sequencing using a custom Neurology panel, containing 758 OMIM-listed genes implicated in neurological disorders, was carried out in two index cases from two different Saudi families displaying early-onset levodopa-responsive Parkinsonism with pyramidal signs and additional clinical features. The detected mutations were verified in the index cases and available family members by direct sequencing.METHODTargeted-next generation sequencing using a custom Neurology panel, containing 758 OMIM-listed genes implicated in neurological disorders, was carried out in two index cases from two different Saudi families displaying early-onset levodopa-responsive Parkinsonism with pyramidal signs and additional clinical features. The detected mutations were verified in the index cases and available family members by direct sequencing.We identified a previously described PLA2G6 homozygous p.R741Q mutation in three affected and two asymptomatic individuals from two Saudi families. Our finding reinforces the notion of the broadness of the clinical spectrum of PLA2G6-related neurodegeneration.RESULTS AND CONCLUSIONWe identified a previously described PLA2G6 homozygous p.R741Q mutation in three affected and two asymptomatic individuals from two Saudi families. Our finding reinforces the notion of the broadness of the clinical spectrum of PLA2G6-related neurodegeneration. Background Recessive mutations in PLA2G6 have been associated with different neurodegenerative disorders, including infantile neuroaxonal dystrophy, neurodegeneration with brain iron accumulation and more recently, early-onset dystonia parkinsonism. Method Targeted-next generation sequencing using a custom Neurology panel, containing 758 OMIM-listed genes implicated in neurological disorders, was carried out in two index cases from two different Saudi families displaying early-onset levodopa-responsive Parkinsonism with pyramidal signs and additional clinical features. The detected mutations were verified in the index cases and available family members by direct sequencing. Results and conclusion We identified a previously described PLA2G6 homozygous p.R741Q mutation in three affected and two asymptomatic individuals from two Saudi families. Our finding reinforces the notion of the broadness of the clinical spectrum of PLA2G6-related neurodegeneration. Keywords: PLA2G6, Parkinsonism, Saudi patients Background Recessive mutations in PLA2G6 have been associated with different neurodegenerative disorders, including infantile neuroaxonal dystrophy, neurodegeneration with brain iron accumulation and more recently, early-onset dystonia parkinsonism. Method Targeted-next generation sequencing using a custom Neurology panel, containing 758 OMIM-listed genes implicated in neurological disorders, was carried out in two index cases from two different Saudi families displaying early-onset levodopa-responsive Parkinsonism with pyramidal signs and additional clinical features. The detected mutations were verified in the index cases and available family members by direct sequencing. Results and conclusion We identified a previously described PLA2G6 homozygous p.R741Q mutation in three affected and two asymptomatic individuals from two Saudi families. Our finding reinforces the notion of the broadness of the clinical spectrum of PLA2G6-related neurodegeneration.
ArticleNumber	295
Audience	Academic
Author	Al Tassan, Nada A. Monies, Dorota Abou Al-Shaar, Hussam Tahir, Asma I. Bohlega, Saeed A. Alyemni, Eman A. Al-Mubarak, Bashayer R. El-Kalioby, Mohamed Faquih, Tariq Al Haibi, Sara Abouelhoda, Mohamed Khalil, Dania S. Mustafa, Abeer E.
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Cites_doi	10.5483/BMBRep.2008.41.8.560 10.1002/ajmg.b.32012 10.3389/fphar.2014.00099 10.1002/ana.21415 10.1016/j.parkreldis.2012.07.016 10.1371/journal.pone.0076831 10.1212/WNL.0b013e318221acd3 10.1371/journal.pone.0012897 10.1016/j.neurobiolaging.2010.05.009 10.1186/s13059-015-0693-2 10.5607/en.2013.22.1.11 10.1371/journal.pone.0135950 10.1038/ng1826 10.1097/01.GIM.0000086478.87623.69
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References	J Zlotogora (2102_CR10) 2003; 5 YX Gui (2102_CR13) 2013; 19 NV Morgan (2102_CR7) 2006; 38 BR Al-Mubarak (2102_CR5) 2015; 10 MA Salih (2102_CR14) 2013; 8 CH Shi (2102_CR9) 2011; 77 C Paisan-Ruiz (2102_CR4) 2012; 33 RM Adibhatla (2102_CR2) 2008; 41 CS Lu (2102_CR3) 2012; 159B C Paisan-Ruiz (2102_CR8) 2009; 65 Saudi Mendeliome Group (2102_CR6) 2015; 16 O Hwang (2102_CR1) 2013; 22 S Levi (2102_CR11) 2014; 5 LA Engel (2102_CR12) 2010; 5 24847269 - Front Pharmacol. 2014 May 07;5:99 26274610 - PLoS One. 2015 Aug 14;10(8):e0135950 18755070 - BMB Rep. 2008 Aug 31;41(8):560-7 18570303 - Ann Neurol. 2009 Jan;65(1):19-23 16783378 - Nat Genet. 2006 Jul;38(7):752-4 20619503 - Neurobiol Aging. 2012 Apr;33(4):814-23 23585717 - Exp Neurobiol. 2013 Mar;22(1):11-7 22213678 - Am J Med Genet B Neuropsychiatr Genet. 2012 Mar;159B(2):183-91 24130795 - PLoS One. 2013 Oct 09;8(10):e76831 20886109 - PLoS One. 2010 Sep 23;5(9):e12897 26112015 - Genome Biol. 2015 Jun 26;16:134 21700586 - Neurology. 2011 Jul 5;77(1):75-81 14501829 - Genet Med. 2003 Sep-Oct;5(5):347-52 23182313 - Parkinsonism Relat Disord. 2013 Jan;19(1):21-6
References_xml	– volume: 41 start-page: 560 issue: 8 year: 2008 ident: 2102_CR2 publication-title: BMB reports doi: 10.5483/BMBRep.2008.41.8.560 – volume: 159B start-page: 183 issue: 2 year: 2012 ident: 2102_CR3 publication-title: Am J Med Genet B, Neuropsychiatr Genet doi: 10.1002/ajmg.b.32012 – volume: 5 start-page: 99 year: 2014 ident: 2102_CR11 publication-title: Front Pharmacol doi: 10.3389/fphar.2014.00099 – volume: 65 start-page: 19 issue: 1 year: 2009 ident: 2102_CR8 publication-title: Ann Neurol doi: 10.1002/ana.21415 – volume: 19 start-page: 21 issue: 1 year: 2013 ident: 2102_CR13 publication-title: Parkinsonism Relat Disord doi: 10.1016/j.parkreldis.2012.07.016 – volume: 8 start-page: e76831 issue: 10 year: 2013 ident: 2102_CR14 publication-title: PLoS One doi: 10.1371/journal.pone.0076831 – volume: 77 start-page: 75 issue: 1 year: 2011 ident: 2102_CR9 publication-title: Neurology doi: 10.1212/WNL.0b013e318221acd3 – volume: 5 start-page: e12897 issue: 9 year: 2010 ident: 2102_CR12 publication-title: PLoS One doi: 10.1371/journal.pone.0012897 – volume: 33 start-page: 814 issue: 4 year: 2012 ident: 2102_CR4 publication-title: Neurobiol Aging doi: 10.1016/j.neurobiolaging.2010.05.009 – volume: 16 start-page: 134 year: 2015 ident: 2102_CR6 publication-title: Genome Biol doi: 10.1186/s13059-015-0693-2 – volume: 22 start-page: 11 issue: 1 year: 2013 ident: 2102_CR1 publication-title: Experimental neurobiology doi: 10.5607/en.2013.22.1.11 – volume: 10 start-page: e0135950 issue: 8 year: 2015 ident: 2102_CR5 publication-title: PLoS ONE doi: 10.1371/journal.pone.0135950 – volume: 38 start-page: 752 issue: 7 year: 2006 ident: 2102_CR7 publication-title: Nat Genet doi: 10.1038/ng1826 – volume: 5 start-page: 347 issue: 5 year: 2003 ident: 2102_CR10 publication-title: Genet Med doi: 10.1097/01.GIM.0000086478.87623.69 – reference: 23585717 - Exp Neurobiol. 2013 Mar;22(1):11-7 – reference: 23182313 - Parkinsonism Relat Disord. 2013 Jan;19(1):21-6 – reference: 16783378 - Nat Genet. 2006 Jul;38(7):752-4 – reference: 20619503 - Neurobiol Aging. 2012 Apr;33(4):814-23 – reference: 21700586 - Neurology. 2011 Jul 5;77(1):75-81 – reference: 24847269 - Front Pharmacol. 2014 May 07;5:99 – reference: 26274610 - PLoS One. 2015 Aug 14;10(8):e0135950 – reference: 18755070 - BMB Rep. 2008 Aug 31;41(8):560-7 – reference: 24130795 - PLoS One. 2013 Oct 09;8(10):e76831 – reference: 22213678 - Am J Med Genet B Neuropsychiatr Genet. 2012 Mar;159B(2):183-91 – reference: 18570303 - Ann Neurol. 2009 Jan;65(1):19-23 – reference: 14501829 - Genet Med. 2003 Sep-Oct;5(5):347-52 – reference: 20886109 - PLoS One. 2010 Sep 23;5(9):e12897 – reference: 26112015 - Genome Biol. 2015 Jun 26;16:134
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Snippet	Background Recessive mutations in PLA2G6 have been associated with different neurodegenerative disorders, including infantile neuroaxonal dystrophy,... Recessive mutations in PLA2G6 have been associated with different neurodegenerative disorders, including infantile neuroaxonal dystrophy, neurodegeneration... Background Recessive mutations in PLA2G6 have been associated with different neurodegenerative disorders, including infantile neuroaxonal dystrophy,...
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SubjectTerms	Adult Biomedical and Life Sciences Biomedicine Brain research Degeneration Dopamine Ethics Experiments Families & family life Family Health Female Funding Genetic aspects Genetic disorders Genetic Heterogeneity Genetics Genomes Genotype Group VI Phospholipases A2 - genetics Haplotypes High-Throughput Nucleotide Sequencing Homozygote Humans Iron Life Sciences Male Medicine/Public Health Mutation Mutation, Missense Nervous system Neurodegeneration NMR Nuclear magnetic resonance Oxidative stress Parkinson's disease Parkinsonian Disorders - genetics Parkinsonian Disorders - pathology Pedigree Research Article Research centers Saudi Arabia Tomography
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Title	Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families
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