Novel Mitochondrial C15620A Variant may Modulate the Phenotype of Mitochondrial G11778A Mutation in a Chinese Family with Leigh Syndrome
We report a case of 3-year-old boy who presented with Leigh syndrome but carried a mitochondrial G11778A mutation in the fourth subunit of the NADH dehydrogenase gene ( MTND4 ). Additional to G11778A mutation, a novel C15620A variant was detected, which resulted in the conversion from leucine to iso...
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| Veröffentlicht in: | Neuromolecular medicine 2014-03, Vol.16 (1), p.119-126 |
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| creator | Ji, Kunqian Zheng, Jinfan Sun, Baoying Liu, Fuchen Shan, Jingli Li, Duoling Luo, Yue-Bei Zhao, Yuying Yan, Chuanzhu |
| description | We report a case of 3-year-old boy who presented with Leigh syndrome but carried a mitochondrial G11778A mutation in the
fourth subunit of the NADH dehydrogenase gene
(
MTND4
). Additional to G11778A mutation, a novel C15620A variant was detected, which resulted in the conversion from leucine to isoleucine in the mitochondrial cytochrome b gene. As G11778A mutation is the most common mutation associated with Leber’s hereditary optic neuropathy (LHON), given the unusual phenotype, the C15620A mutation was postulated to influence the pathogenicity of the G11778A mutation. This case further expands the clinical spectrum associated with the primary G11778A LHON mutation. |
| doi_str_mv | 10.1007/s12017-013-8264-8 |
| format | Article |
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fourth subunit of the NADH dehydrogenase gene
(
MTND4
). Additional to G11778A mutation, a novel C15620A variant was detected, which resulted in the conversion from leucine to isoleucine in the mitochondrial cytochrome b gene. As G11778A mutation is the most common mutation associated with Leber’s hereditary optic neuropathy (LHON), given the unusual phenotype, the C15620A mutation was postulated to influence the pathogenicity of the G11778A mutation. This case further expands the clinical spectrum associated with the primary G11778A LHON mutation.</description><identifier>ISSN: 1535-1084</identifier><identifier>EISSN: 1559-1174</identifier><identifier>DOI: 10.1007/s12017-013-8264-8</identifier><identifier>PMID: 24062162</identifier><language>eng</language><publisher>Boston: Springer US</publisher><subject>Amino Acid Substitution ; Biomedical and Life Sciences ; Biomedicine ; Cells, Cultured ; Child, Preschool ; DNA, Mitochondrial - genetics ; Esotropia - genetics ; Fibroblasts ; Humans ; Internal Medicine ; Leigh Disease - genetics ; Magnetic Resonance Imaging ; Male ; Membrane Potential, Mitochondrial ; Muscle, Skeletal - pathology ; Mutation, Missense ; NADH Dehydrogenase - genetics ; Neurology ; Neurosciences ; Optic Atrophy, Hereditary, Leber - genetics ; Original Paper ; Oxidative Phosphorylation ; Phenotype ; Point Mutation ; Polymorphism, Restriction Fragment Length ; Real-Time Polymerase Chain Reaction ; Tremor - genetics</subject><ispartof>Neuromolecular medicine, 2014-03, Vol.16 (1), p.119-126</ispartof><rights>Springer Science+Business Media New York 2013</rights><rights>Springer Science+Business Media New York 2014</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c405t-660ef2cea33cf343ef1879db3075997edb7f32b15f33f7a12b7c072f37bb24ff3</citedby><cites>FETCH-LOGICAL-c405t-660ef2cea33cf343ef1879db3075997edb7f32b15f33f7a12b7c072f37bb24ff3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s12017-013-8264-8$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s12017-013-8264-8$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,780,784,27923,27924,41487,42556,51318</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/24062162$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Ji, Kunqian</creatorcontrib><creatorcontrib>Zheng, Jinfan</creatorcontrib><creatorcontrib>Sun, Baoying</creatorcontrib><creatorcontrib>Liu, Fuchen</creatorcontrib><creatorcontrib>Shan, Jingli</creatorcontrib><creatorcontrib>Li, Duoling</creatorcontrib><creatorcontrib>Luo, Yue-Bei</creatorcontrib><creatorcontrib>Zhao, Yuying</creatorcontrib><creatorcontrib>Yan, Chuanzhu</creatorcontrib><title>Novel Mitochondrial C15620A Variant may Modulate the Phenotype of Mitochondrial G11778A Mutation in a Chinese Family with Leigh Syndrome</title><title>Neuromolecular medicine</title><addtitle>Neuromol Med</addtitle><addtitle>Neuromolecular Med</addtitle><description>We report a case of 3-year-old boy who presented with Leigh syndrome but carried a mitochondrial G11778A mutation in the
fourth subunit of the NADH dehydrogenase gene
(
MTND4
). Additional to G11778A mutation, a novel C15620A variant was detected, which resulted in the conversion from leucine to isoleucine in the mitochondrial cytochrome b gene. As G11778A mutation is the most common mutation associated with Leber’s hereditary optic neuropathy (LHON), given the unusual phenotype, the C15620A mutation was postulated to influence the pathogenicity of the G11778A mutation. This case further expands the clinical spectrum associated with the primary G11778A LHON mutation.</description><subject>Amino Acid Substitution</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Cells, Cultured</subject><subject>Child, Preschool</subject><subject>DNA, Mitochondrial - genetics</subject><subject>Esotropia - genetics</subject><subject>Fibroblasts</subject><subject>Humans</subject><subject>Internal Medicine</subject><subject>Leigh Disease - genetics</subject><subject>Magnetic Resonance Imaging</subject><subject>Male</subject><subject>Membrane Potential, Mitochondrial</subject><subject>Muscle, Skeletal - pathology</subject><subject>Mutation, Missense</subject><subject>NADH Dehydrogenase - genetics</subject><subject>Neurology</subject><subject>Neurosciences</subject><subject>Optic Atrophy, Hereditary, Leber - genetics</subject><subject>Original Paper</subject><subject>Oxidative Phosphorylation</subject><subject>Phenotype</subject><subject>Point Mutation</subject><subject>Polymorphism, Restriction Fragment Length</subject><subject>Real-Time Polymerase Chain Reaction</subject><subject>Tremor - genetics</subject><issn>1535-1084</issn><issn>1559-1174</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNp1kV2L1DAUhoMo7of-AG8k4I031ZykadrLYXDXhRkV_LgNaXuyzdImY5Mq_Qf-bDPMKrLgVRLyvO858BDyAtgbYEy9jcAZqIKBKGpelUX9iJyDlE0BoMrHx7uQBbC6PCMXMd4xxjkAPCVnvGQVh4qfk18fwg8c6d6l0A3B97MzI92CrDjb0G8mP32ik1npPvTLaBLSNCD9NKAPaT0gDfZB9jrPVvWG7pdkkgueOk8N3Q7OY0R6ZSY3rvSnSwPdobsd6Oc1B8OEz8gTa8aIz-_PS_L16t2X7fti9_H6ZrvZFV3JZCqqiqHlHRohOitKgRZq1fStYEo2jcK-VVbwFqQVwioDvFUdU9wK1ba8tFZckten3sMcvi8Yk55c7HAcjcewRA2SScFrrmRGXz1A78Iy-7ydhrKp2BETmYIT1c0hxhmtPsxuMvOqgemjJn3SpLMmfdSk65x5ed-8tBP2fxN_vGSAn4CYv_wtzv-M_m_rb3oRm7w</recordid><startdate>20140301</startdate><enddate>20140301</enddate><creator>Ji, Kunqian</creator><creator>Zheng, Jinfan</creator><creator>Sun, Baoying</creator><creator>Liu, Fuchen</creator><creator>Shan, Jingli</creator><creator>Li, Duoling</creator><creator>Luo, Yue-Bei</creator><creator>Zhao, Yuying</creator><creator>Yan, Chuanzhu</creator><general>Springer US</general><general>Springer Nature 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>3V.</scope><scope>7QP</scope><scope>7QR</scope><scope>7TK</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>88G</scope><scope>8AO</scope><scope>8FD</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>M2M</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>PSYQQ</scope><scope>Q9U</scope><scope>RC3</scope></search><sort><creationdate>20140301</creationdate><title>Novel Mitochondrial C15620A Variant may Modulate the Phenotype of Mitochondrial G11778A Mutation in a Chinese Family with Leigh Syndrome</title><author>Ji, Kunqian ; Zheng, Jinfan ; Sun, Baoying ; Liu, Fuchen ; Shan, Jingli ; Li, Duoling ; Luo, Yue-Bei ; Zhao, Yuying ; Yan, Chuanzhu</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c405t-660ef2cea33cf343ef1879db3075997edb7f32b15f33f7a12b7c072f37bb24ff3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>Amino Acid Substitution</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Cells, Cultured</topic><topic>Child, Preschool</topic><topic>DNA, Mitochondrial - genetics</topic><topic>Esotropia - genetics</topic><topic>Fibroblasts</topic><topic>Humans</topic><topic>Internal Medicine</topic><topic>Leigh Disease - genetics</topic><topic>Magnetic Resonance Imaging</topic><topic>Male</topic><topic>Membrane Potential, Mitochondrial</topic><topic>Muscle, Skeletal - pathology</topic><topic>Mutation, Missense</topic><topic>NADH Dehydrogenase - genetics</topic><topic>Neurology</topic><topic>Neurosciences</topic><topic>Optic Atrophy, Hereditary, Leber - genetics</topic><topic>Original Paper</topic><topic>Oxidative Phosphorylation</topic><topic>Phenotype</topic><topic>Point Mutation</topic><topic>Polymorphism, Restriction Fragment Length</topic><topic>Real-Time Polymerase Chain Reaction</topic><topic>Tremor - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Ji, Kunqian</creatorcontrib><creatorcontrib>Zheng, Jinfan</creatorcontrib><creatorcontrib>Sun, Baoying</creatorcontrib><creatorcontrib>Liu, Fuchen</creatorcontrib><creatorcontrib>Shan, Jingli</creatorcontrib><creatorcontrib>Li, Duoling</creatorcontrib><creatorcontrib>Luo, Yue-Bei</creatorcontrib><creatorcontrib>Zhao, Yuying</creatorcontrib><creatorcontrib>Yan, Chuanzhu</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Chemoreception Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Psychology Database (Alumni)</collection><collection>ProQuest Pharma Collection</collection><collection>Technology Research Database</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Psychology Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest One Psychology</collection><collection>ProQuest Central Basic</collection><collection>Genetics Abstracts</collection><jtitle>Neuromolecular medicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Ji, Kunqian</au><au>Zheng, Jinfan</au><au>Sun, Baoying</au><au>Liu, Fuchen</au><au>Shan, Jingli</au><au>Li, Duoling</au><au>Luo, Yue-Bei</au><au>Zhao, Yuying</au><au>Yan, Chuanzhu</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Novel Mitochondrial C15620A Variant may Modulate the Phenotype of Mitochondrial G11778A Mutation in a Chinese Family with Leigh Syndrome</atitle><jtitle>Neuromolecular medicine</jtitle><stitle>Neuromol Med</stitle><addtitle>Neuromolecular Med</addtitle><date>2014-03-01</date><risdate>2014</risdate><volume>16</volume><issue>1</issue><spage>119</spage><epage>126</epage><pages>119-126</pages><issn>1535-1084</issn><eissn>1559-1174</eissn><abstract>We report a case of 3-year-old boy who presented with Leigh syndrome but carried a mitochondrial G11778A mutation in the
fourth subunit of the NADH dehydrogenase gene
(
MTND4
). Additional to G11778A mutation, a novel C15620A variant was detected, which resulted in the conversion from leucine to isoleucine in the mitochondrial cytochrome b gene. As G11778A mutation is the most common mutation associated with Leber’s hereditary optic neuropathy (LHON), given the unusual phenotype, the C15620A mutation was postulated to influence the pathogenicity of the G11778A mutation. This case further expands the clinical spectrum associated with the primary G11778A LHON mutation.</abstract><cop>Boston</cop><pub>Springer US</pub><pmid>24062162</pmid><doi>10.1007/s12017-013-8264-8</doi><tpages>8</tpages></addata></record> |
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| language | eng |
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| subjects | Amino Acid Substitution Biomedical and Life Sciences Biomedicine Cells, Cultured Child, Preschool DNA, Mitochondrial - genetics Esotropia - genetics Fibroblasts Humans Internal Medicine Leigh Disease - genetics Magnetic Resonance Imaging Male Membrane Potential, Mitochondrial Muscle, Skeletal - pathology Mutation, Missense NADH Dehydrogenase - genetics Neurology Neurosciences Optic Atrophy, Hereditary, Leber - genetics Original Paper Oxidative Phosphorylation Phenotype Point Mutation Polymorphism, Restriction Fragment Length Real-Time Polymerase Chain Reaction Tremor - genetics |
| title | Novel Mitochondrial C15620A Variant may Modulate the Phenotype of Mitochondrial G11778A Mutation in a Chinese Family with Leigh Syndrome |
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