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Novel complex Re-Arrangement of ARG1 commonly shared by unrelated patients with Hyperargininemia
Hyperargininemia is a very rare progressive neurometabolic disorder caused by deficiency of hepatic cytosolic arginase I, resulting from mutations in the ARG1 gene. Until now, some mutations were reported worldwide and none of them were of Southeast Asian origins. Furthermore, most reported mutation...
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| Published in: | Gene 2014-01, Vol.533 (1), p.240-245 |
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| creator | Mohseni, Jafar Boon Hock, Chia Abdul Razak, Che Othman, Syah Nor Iman Hayati, Fatemeh PeiTee, Winnie Ong Haniffa, Muzhirah Zilfalil, Bin Alwi Mohd. Rawi, Rowani Ngu, Lock-Hock Sasongko, Teguh Haryo |
| description | Hyperargininemia is a very rare progressive neurometabolic disorder caused by deficiency of hepatic cytosolic arginase I, resulting from mutations in the ARG1 gene. Until now, some mutations were reported worldwide and none of them were of Southeast Asian origins. Furthermore, most reported mutations were point mutations and a few others deletions or insertions.
This study aims at identifying the disease-causing mutation in the ARG1 gene of Malaysian patients with hyperargininemia.
We employed a series of PCR amplifications and direct sequencing in order to identify the mutation. We subsequently used quantitative real-time PCR to determine the copy number of the exons flanking the mutation. We blasted our sequencing data with that of the reference sequence in the NCBI in order to obtain positional insights of the mutation.
We found a novel complex re-arrangement involving insertion, inversion and gross deletion of ARG1 (designated g.insIVS1+1899GTTTTATCAT;g.invIVS1+1933_+1953;g.delIVS1+1954_IVS2+914;c.del116_188;p.Pro20SerfsX4) commonly shared by 5 patients with hyperargininemia, each originating from different family. None of the affected families share known relationship with each other, although four of the five patients were known to have first-cousin consanguineous parents.
This is the first report of complex re-arrangement in the ARG1. Further analyses showing that the patients have shared the same geographic origin within the northeastern part of Malaysia prompted us to suggest a simple molecular screening of hyperargininemia within related ethnicities using a long-range PCR.
•First report of complex re-arrangement mutation in ARG1 gene.•First report of ARG1 mutation among Hyperargininemia patients of South-East Asian.•The mutation was found to be common in un-related patients with Hyperargininemia.•The finding led to simple screening method for the disorder among similar ethnicities. |
| doi_str_mv | 10.1016/j.gene.2013.09.081 |
| format | article |
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This study aims at identifying the disease-causing mutation in the ARG1 gene of Malaysian patients with hyperargininemia.
We employed a series of PCR amplifications and direct sequencing in order to identify the mutation. We subsequently used quantitative real-time PCR to determine the copy number of the exons flanking the mutation. We blasted our sequencing data with that of the reference sequence in the NCBI in order to obtain positional insights of the mutation.
We found a novel complex re-arrangement involving insertion, inversion and gross deletion of ARG1 (designated g.insIVS1+1899GTTTTATCAT;g.invIVS1+1933_+1953;g.delIVS1+1954_IVS2+914;c.del116_188;p.Pro20SerfsX4) commonly shared by 5 patients with hyperargininemia, each originating from different family. None of the affected families share known relationship with each other, although four of the five patients were known to have first-cousin consanguineous parents.
This is the first report of complex re-arrangement in the ARG1. Further analyses showing that the patients have shared the same geographic origin within the northeastern part of Malaysia prompted us to suggest a simple molecular screening of hyperargininemia within related ethnicities using a long-range PCR.
•First report of complex re-arrangement mutation in ARG1 gene.•First report of ARG1 mutation among Hyperargininemia patients of South-East Asian.•The mutation was found to be common in un-related patients with Hyperargininemia.•The finding led to simple screening method for the disorder among similar ethnicities.</description><identifier>ISSN: 0378-1119</identifier><identifier>EISSN: 1879-0038</identifier><identifier>DOI: 10.1016/j.gene.2013.09.081</identifier><identifier>PMID: 24103480</identifier><language>eng</language><publisher>Netherlands: Elsevier B.V</publisher><subject>ARG1 ; Arginase - genetics ; Arginase deficiency ; Base Sequence ; Child ; Child, Preschool ; Complex re-arrangement ; DNA ; Female ; Gene Rearrangement ; Humans ; Hyperargininemia ; Hyperargininemia - genetics ; Infant ; Malaysia ; Male ; Molecular Sequence Data ; Polymerase Chain Reaction ; Real-Time Polymerase Chain Reaction ; Sequence Homology, Nucleic Acid</subject><ispartof>Gene, 2014-01, Vol.533 (1), p.240-245</ispartof><rights>2013 Elsevier B.V.</rights><rights>2013 Elsevier B.V. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c356t-dea9727e19697ce94dcf8e21e7e64d6778d64768ef63d9b48ffbd1272e40e65b3</citedby><cites>FETCH-LOGICAL-c356t-dea9727e19697ce94dcf8e21e7e64d6778d64768ef63d9b48ffbd1272e40e65b3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>315,786,790,27957,27958</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/24103480$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Mohseni, Jafar</creatorcontrib><creatorcontrib>Boon Hock, Chia</creatorcontrib><creatorcontrib>Abdul Razak, Che</creatorcontrib><creatorcontrib>Othman, Syah Nor Iman</creatorcontrib><creatorcontrib>Hayati, Fatemeh</creatorcontrib><creatorcontrib>PeiTee, Winnie Ong</creatorcontrib><creatorcontrib>Haniffa, Muzhirah</creatorcontrib><creatorcontrib>Zilfalil, Bin Alwi</creatorcontrib><creatorcontrib>Mohd. Rawi, Rowani</creatorcontrib><creatorcontrib>Ngu, Lock-Hock</creatorcontrib><creatorcontrib>Sasongko, Teguh Haryo</creatorcontrib><title>Novel complex Re-Arrangement of ARG1 commonly shared by unrelated patients with Hyperargininemia</title><title>Gene</title><addtitle>Gene</addtitle><description>Hyperargininemia is a very rare progressive neurometabolic disorder caused by deficiency of hepatic cytosolic arginase I, resulting from mutations in the ARG1 gene. Until now, some mutations were reported worldwide and none of them were of Southeast Asian origins. Furthermore, most reported mutations were point mutations and a few others deletions or insertions.
This study aims at identifying the disease-causing mutation in the ARG1 gene of Malaysian patients with hyperargininemia.
We employed a series of PCR amplifications and direct sequencing in order to identify the mutation. We subsequently used quantitative real-time PCR to determine the copy number of the exons flanking the mutation. We blasted our sequencing data with that of the reference sequence in the NCBI in order to obtain positional insights of the mutation.
We found a novel complex re-arrangement involving insertion, inversion and gross deletion of ARG1 (designated g.insIVS1+1899GTTTTATCAT;g.invIVS1+1933_+1953;g.delIVS1+1954_IVS2+914;c.del116_188;p.Pro20SerfsX4) commonly shared by 5 patients with hyperargininemia, each originating from different family. None of the affected families share known relationship with each other, although four of the five patients were known to have first-cousin consanguineous parents.
This is the first report of complex re-arrangement in the ARG1. Further analyses showing that the patients have shared the same geographic origin within the northeastern part of Malaysia prompted us to suggest a simple molecular screening of hyperargininemia within related ethnicities using a long-range PCR.
•First report of complex re-arrangement mutation in ARG1 gene.•First report of ARG1 mutation among Hyperargininemia patients of South-East Asian.•The mutation was found to be common in un-related patients with Hyperargininemia.•The finding led to simple screening method for the disorder among similar ethnicities.</description><subject>ARG1</subject><subject>Arginase - genetics</subject><subject>Arginase deficiency</subject><subject>Base Sequence</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Complex re-arrangement</subject><subject>DNA</subject><subject>Female</subject><subject>Gene Rearrangement</subject><subject>Humans</subject><subject>Hyperargininemia</subject><subject>Hyperargininemia - genetics</subject><subject>Infant</subject><subject>Malaysia</subject><subject>Male</subject><subject>Molecular Sequence Data</subject><subject>Polymerase Chain Reaction</subject><subject>Real-Time Polymerase Chain Reaction</subject><subject>Sequence Homology, Nucleic Acid</subject><issn>0378-1119</issn><issn>1879-0038</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><recordid>eNp9kE1PGzEQhq2qFQTKH-ih8rGXXTz74Q-plwhRQEJUiuDseu3Z4Gi_am-A_Ps6SsqRuYxG88wrzUPIN2A5MOCXm3yNA-YFgzJnKmcSPpEFSKEyxkr5mSxYKWQGAOqUnMW4Yanqujghp0UFrKwkW5A_D-MLdtSO_dThG11htgzBDGvscZjp2NLl6gb2634cuh2Nzyago82OboeAnZnTMJnZJzjSVz8_09vdhMGEtR_8gL03X8mX1nQRL479nDz9un68us3uf9_cXS3vM1vWfM4cGiUKgaC4EhZV5WwrsQAUyCvHhZCOV4JLbHnpVFPJtm0cFKLAiiGvm_Kc_DjkTmH8u8U4695Hi11nBhy3UUNVMxCiFHVCiwNqwxhjwFZPwfcm7DQwvTerN3pvVu_NaqZ0MpuOvh_zt02P7v3kv8oE_DwAmL588Rh0tMmLRecD2lm70X-U_w9fZIrH</recordid><startdate>20140101</startdate><enddate>20140101</enddate><creator>Mohseni, Jafar</creator><creator>Boon Hock, Chia</creator><creator>Abdul Razak, Che</creator><creator>Othman, Syah Nor Iman</creator><creator>Hayati, Fatemeh</creator><creator>PeiTee, Winnie Ong</creator><creator>Haniffa, Muzhirah</creator><creator>Zilfalil, Bin Alwi</creator><creator>Mohd. Rawi, Rowani</creator><creator>Ngu, Lock-Hock</creator><creator>Sasongko, Teguh Haryo</creator><general>Elsevier B.V</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20140101</creationdate><title>Novel complex Re-Arrangement of ARG1 commonly shared by unrelated patients with Hyperargininemia</title><author>Mohseni, Jafar ; Boon Hock, Chia ; Abdul Razak, Che ; Othman, Syah Nor Iman ; Hayati, Fatemeh ; PeiTee, Winnie Ong ; Haniffa, Muzhirah ; Zilfalil, Bin Alwi ; Mohd. Rawi, Rowani ; Ngu, Lock-Hock ; Sasongko, Teguh Haryo</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c356t-dea9727e19697ce94dcf8e21e7e64d6778d64768ef63d9b48ffbd1272e40e65b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>ARG1</topic><topic>Arginase - genetics</topic><topic>Arginase deficiency</topic><topic>Base Sequence</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Complex re-arrangement</topic><topic>DNA</topic><topic>Female</topic><topic>Gene Rearrangement</topic><topic>Humans</topic><topic>Hyperargininemia</topic><topic>Hyperargininemia - genetics</topic><topic>Infant</topic><topic>Malaysia</topic><topic>Male</topic><topic>Molecular Sequence Data</topic><topic>Polymerase Chain Reaction</topic><topic>Real-Time Polymerase Chain Reaction</topic><topic>Sequence Homology, Nucleic Acid</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Mohseni, Jafar</creatorcontrib><creatorcontrib>Boon Hock, Chia</creatorcontrib><creatorcontrib>Abdul Razak, Che</creatorcontrib><creatorcontrib>Othman, Syah Nor Iman</creatorcontrib><creatorcontrib>Hayati, Fatemeh</creatorcontrib><creatorcontrib>PeiTee, Winnie Ong</creatorcontrib><creatorcontrib>Haniffa, Muzhirah</creatorcontrib><creatorcontrib>Zilfalil, Bin Alwi</creatorcontrib><creatorcontrib>Mohd. Rawi, Rowani</creatorcontrib><creatorcontrib>Ngu, Lock-Hock</creatorcontrib><creatorcontrib>Sasongko, Teguh Haryo</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Gene</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Mohseni, Jafar</au><au>Boon Hock, Chia</au><au>Abdul Razak, Che</au><au>Othman, Syah Nor Iman</au><au>Hayati, Fatemeh</au><au>PeiTee, Winnie Ong</au><au>Haniffa, Muzhirah</au><au>Zilfalil, Bin Alwi</au><au>Mohd. Rawi, Rowani</au><au>Ngu, Lock-Hock</au><au>Sasongko, Teguh Haryo</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Novel complex Re-Arrangement of ARG1 commonly shared by unrelated patients with Hyperargininemia</atitle><jtitle>Gene</jtitle><addtitle>Gene</addtitle><date>2014-01-01</date><risdate>2014</risdate><volume>533</volume><issue>1</issue><spage>240</spage><epage>245</epage><pages>240-245</pages><issn>0378-1119</issn><eissn>1879-0038</eissn><notes>ObjectType-Article-1</notes><notes>SourceType-Scholarly Journals-1</notes><notes>ObjectType-Feature-2</notes><notes>content type line 23</notes><abstract>Hyperargininemia is a very rare progressive neurometabolic disorder caused by deficiency of hepatic cytosolic arginase I, resulting from mutations in the ARG1 gene. Until now, some mutations were reported worldwide and none of them were of Southeast Asian origins. Furthermore, most reported mutations were point mutations and a few others deletions or insertions.
This study aims at identifying the disease-causing mutation in the ARG1 gene of Malaysian patients with hyperargininemia.
We employed a series of PCR amplifications and direct sequencing in order to identify the mutation. We subsequently used quantitative real-time PCR to determine the copy number of the exons flanking the mutation. We blasted our sequencing data with that of the reference sequence in the NCBI in order to obtain positional insights of the mutation.
We found a novel complex re-arrangement involving insertion, inversion and gross deletion of ARG1 (designated g.insIVS1+1899GTTTTATCAT;g.invIVS1+1933_+1953;g.delIVS1+1954_IVS2+914;c.del116_188;p.Pro20SerfsX4) commonly shared by 5 patients with hyperargininemia, each originating from different family. None of the affected families share known relationship with each other, although four of the five patients were known to have first-cousin consanguineous parents.
This is the first report of complex re-arrangement in the ARG1. Further analyses showing that the patients have shared the same geographic origin within the northeastern part of Malaysia prompted us to suggest a simple molecular screening of hyperargininemia within related ethnicities using a long-range PCR.
•First report of complex re-arrangement mutation in ARG1 gene.•First report of ARG1 mutation among Hyperargininemia patients of South-East Asian.•The mutation was found to be common in un-related patients with Hyperargininemia.•The finding led to simple screening method for the disorder among similar ethnicities.</abstract><cop>Netherlands</cop><pub>Elsevier B.V</pub><pmid>24103480</pmid><doi>10.1016/j.gene.2013.09.081</doi><tpages>6</tpages></addata></record> |
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| ispartof | Gene, 2014-01, Vol.533 (1), p.240-245 |
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| subjects | ARG1 Arginase - genetics Arginase deficiency Base Sequence Child Child, Preschool Complex re-arrangement DNA Female Gene Rearrangement Humans Hyperargininemia Hyperargininemia - genetics Infant Malaysia Male Molecular Sequence Data Polymerase Chain Reaction Real-Time Polymerase Chain Reaction Sequence Homology, Nucleic Acid |
| title | Novel complex Re-Arrangement of ARG1 commonly shared by unrelated patients with Hyperargininemia |
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