A compound heterozygous EARS2 mutation associated with mild leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL)
Abstract Mitochondrial glutamyl-tRNA synthetase is a major component of protein biosynthesis that loads tRNAs with cognate amino acids. Mutations in the gene encoding this enzyme have been associated with a variety of disorders related to oxidative phosphorylation. Here, we present a case of leukoen...
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| Veröffentlicht in: | Brain & development (Tokyo. 1979) 2016-10, Vol.38 (9), p.857-861 |
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| container_title | Brain & development (Tokyo. 1979) |
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| creator | Güngör, Olcay Özkaya, Ahmet Kağan Şahin, Yavuz Güngör, Gülay Dilber, Cengiz Aydın, Kürşad |
| description | Abstract Mitochondrial glutamyl-tRNA synthetase is a major component of protein biosynthesis that loads tRNAs with cognate amino acids. Mutations in the gene encoding this enzyme have been associated with a variety of disorders related to oxidative phosphorylation. Here, we present a case of leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) presenting a biphasic clinical course characterized by delayed psychomotor development and seizure. High-throughput sequencing revealed a novel compound heterozygous mutation in mitochondrial glutamyl-tRNA synthetase 2 (EARS2), which appears to be causative of disease symptoms. |
| doi_str_mv | 10.1016/j.braindev.2016.04.002 |
| format | Article |
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Mutations in the gene encoding this enzyme have been associated with a variety of disorders related to oxidative phosphorylation. Here, we present a case of leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) presenting a biphasic clinical course characterized by delayed psychomotor development and seizure. 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Mutations in the gene encoding this enzyme have been associated with a variety of disorders related to oxidative phosphorylation. Here, we present a case of leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) presenting a biphasic clinical course characterized by delayed psychomotor development and seizure. High-throughput sequencing revealed a novel compound heterozygous mutation in mitochondrial glutamyl-tRNA synthetase 2 (EARS2), which appears to be causative of disease symptoms.</description><subject>Brain Stem - diagnostic imaging</subject><subject>Brain Stem - metabolism</subject><subject>Child, Preschool</subject><subject>DNA Mutational Analysis</subject><subject>EARS2</subject><subject>Female</subject><subject>Follow-Up Studies</subject><subject>Glutamate-tRNA Ligase - genetics</subject><subject>Humans</subject><subject>Lactic Acid - metabolism</subject><subject>Leukoencephalopathies - diagnosis</subject><subject>Leukoencephalopathies - drug therapy</subject><subject>Leukoencephalopathies - genetics</subject><subject>Leukoencephalopathies - physiopathology</subject><subject>Leukoencephalopathy</subject><subject>Magnetic Resonance Imaging</subject><subject>Magnetic Resonance Spectroscopy</subject><subject>Mitochondrial aminoacyl-tRNA synthetase</subject><subject>Mutation</subject><subject>Neurology</subject><subject>Severity of Illness Index</subject><subject>Thalamus - diagnostic imaging</subject><subject>Thalamus - metabolism</subject><issn>0387-7604</issn><issn>1872-7131</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2016</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFUk1v1DAQjRCIbgt_ofKxHBLGH3GyF8S2Kh_SSki0nC3HmW28deIldhYtf4K_XKfbcuDCyRrNm_c8702WnVMoKFD5fls0o7ZDi_uCpboAUQCwF9mC1hXLK8rpy2wBvK7ySoI4yU5D2AIAZRReZyesorQCLhbZnxUxvt_5aWhJhxFH__tw56dArlffbxjpp6ij9QPRIXhjdcSW_LKxI711LXE43XscDO467fxOx-5w7MZU6z6x6ET7-NEQsSd22Hu3xx6H-Njp7F1HnDZJA8nF-vZy_e5N9mqjXcC3T-9Z9uPT9e3Vl3z97fPXq9U6N0JUMTdLARRLwRvZCCYpMCrQcC6WEgyFqja83GjJuGA1cMlkq5tGmGWJtSllveRn2cWRdzf6nxOGqHobDDqnB0zrK1ong1hVV2WCyiPUjD6EETdqN9pejwdFQc1hqK16DkPNYSgQKoWRBs-fNKamx_bv2LP7CfDxCMC06d7iqIKxs5-tHdFE1Xr7f40P_1AYZwdrtLvHA4atn8Yh-aioCkyBuplPYr4IKjkAB8EfAFZ5tEY</recordid><startdate>20161001</startdate><enddate>20161001</enddate><creator>Güngör, Olcay</creator><creator>Özkaya, Ahmet Kağan</creator><creator>Şahin, Yavuz</creator><creator>Güngör, Gülay</creator><creator>Dilber, Cengiz</creator><creator>Aydın, Kürşad</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><orcidid>https://orcid.org/0000-0003-3562-6495</orcidid></search><sort><creationdate>20161001</creationdate><title>A compound heterozygous EARS2 mutation associated with mild leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL)</title><author>Güngör, Olcay ; Özkaya, Ahmet Kağan ; Şahin, Yavuz ; Güngör, Gülay ; Dilber, Cengiz ; Aydın, Kürşad</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c447t-c9401e543b6b42610214ec334960c1078c35fa62342803626dabb4c95e8c56893</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2016</creationdate><topic>Brain Stem - diagnostic imaging</topic><topic>Brain Stem - metabolism</topic><topic>Child, Preschool</topic><topic>DNA Mutational Analysis</topic><topic>EARS2</topic><topic>Female</topic><topic>Follow-Up Studies</topic><topic>Glutamate-tRNA Ligase - genetics</topic><topic>Humans</topic><topic>Lactic Acid - metabolism</topic><topic>Leukoencephalopathies - diagnosis</topic><topic>Leukoencephalopathies - drug therapy</topic><topic>Leukoencephalopathies - genetics</topic><topic>Leukoencephalopathies - physiopathology</topic><topic>Leukoencephalopathy</topic><topic>Magnetic Resonance Imaging</topic><topic>Magnetic Resonance Spectroscopy</topic><topic>Mitochondrial aminoacyl-tRNA synthetase</topic><topic>Mutation</topic><topic>Neurology</topic><topic>Severity of Illness Index</topic><topic>Thalamus - diagnostic imaging</topic><topic>Thalamus - metabolism</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Güngör, Olcay</creatorcontrib><creatorcontrib>Özkaya, Ahmet Kağan</creatorcontrib><creatorcontrib>Şahin, Yavuz</creatorcontrib><creatorcontrib>Güngör, Gülay</creatorcontrib><creatorcontrib>Dilber, Cengiz</creatorcontrib><creatorcontrib>Aydın, Kürşad</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>Brain & development (Tokyo. 1979)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Güngör, Olcay</au><au>Özkaya, Ahmet Kağan</au><au>Şahin, Yavuz</au><au>Güngör, Gülay</au><au>Dilber, Cengiz</au><au>Aydın, Kürşad</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A compound heterozygous EARS2 mutation associated with mild leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL)</atitle><jtitle>Brain & development (Tokyo. 1979)</jtitle><addtitle>Brain Dev</addtitle><date>2016-10-01</date><risdate>2016</risdate><volume>38</volume><issue>9</issue><spage>857</spage><epage>861</epage><pages>857-861</pages><issn>0387-7604</issn><eissn>1872-7131</eissn><abstract>Abstract Mitochondrial glutamyl-tRNA synthetase is a major component of protein biosynthesis that loads tRNAs with cognate amino acids. Mutations in the gene encoding this enzyme have been associated with a variety of disorders related to oxidative phosphorylation. Here, we present a case of leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) presenting a biphasic clinical course characterized by delayed psychomotor development and seizure. High-throughput sequencing revealed a novel compound heterozygous mutation in mitochondrial glutamyl-tRNA synthetase 2 (EARS2), which appears to be causative of disease symptoms.</abstract><cop>Netherlands</cop><pub>Elsevier B.V</pub><pmid>27117034</pmid><doi>10.1016/j.braindev.2016.04.002</doi><tpages>5</tpages><orcidid>https://orcid.org/0000-0003-3562-6495</orcidid></addata></record> |
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| ispartof | Brain & development (Tokyo. 1979), 2016-10, Vol.38 (9), p.857-861 |
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| source | MEDLINE; Elsevier ScienceDirect Journals Complete |
| subjects | Brain Stem - diagnostic imaging Brain Stem - metabolism Child, Preschool DNA Mutational Analysis EARS2 Female Follow-Up Studies Glutamate-tRNA Ligase - genetics Humans Lactic Acid - metabolism Leukoencephalopathies - diagnosis Leukoencephalopathies - drug therapy Leukoencephalopathies - genetics Leukoencephalopathies - physiopathology Leukoencephalopathy Magnetic Resonance Imaging Magnetic Resonance Spectroscopy Mitochondrial aminoacyl-tRNA synthetase Mutation Neurology Severity of Illness Index Thalamus - diagnostic imaging Thalamus - metabolism |
| title | A compound heterozygous EARS2 mutation associated with mild leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) |
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