Clinical variability in maternally inherited leber hereditary optic neuropathy with the G14459A mutation
Spasticity and dystonia have been associated with mitochondrial (mt) DNA mutations at A11696G, G14459A, and T14596A. We describe the clinical features and molecular analysis of two Caucasian pedigrees with the 14,459 guanosine (G) → adenine (A) transition. The maternally inherited Leber hereditary o...
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| Veröffentlicht in: | American journal of medical genetics 2004-02, Vol.124A (4), p.372-376 |
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| creator | Tarnopolsky, Mark A. Baker, Steven K. Myint, Tomoko Maxner, C.E. Robitaille, J. Robinson, Brian H. |
| description | Spasticity and dystonia have been associated with mitochondrial (mt) DNA mutations at A11696G, G14459A, and T14596A. We describe the clinical features and molecular analysis of two Caucasian pedigrees with the 14,459 guanosine (G) → adenine (A) transition. The maternally inherited Leber hereditary optic neuropathy (LHON) phenotypes showed extreme clinical variability and the only screening test that was abnormal in the patient with spasticity/dystonia was a high T2 signal in the putamen bilaterally. The male patient in the second pedigree showed features of optic neuropathy without spasticity/dystonia. These results further support that the 14,459 G → A transition mutation is causally related to LHON and spasticity/dystonia. © 2003 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/ajmg.a.20449 |
| format | Article |
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We describe the clinical features and molecular analysis of two Caucasian pedigrees with the 14,459 guanosine (G) → adenine (A) transition. The maternally inherited Leber hereditary optic neuropathy (LHON) phenotypes showed extreme clinical variability and the only screening test that was abnormal in the patient with spasticity/dystonia was a high T2 signal in the putamen bilaterally. The male patient in the second pedigree showed features of optic neuropathy without spasticity/dystonia. These results further support that the 14,459 G → A transition mutation is causally related to LHON and spasticity/dystonia. © 2003 Wiley‐Liss, Inc.</description><identifier>ISSN: 1552-4825</identifier><identifier>ISSN: 0148-7299</identifier><identifier>EISSN: 1552-4833</identifier><identifier>EISSN: 1096-8628</identifier><identifier>DOI: 10.1002/ajmg.a.20449</identifier><identifier>PMID: 14735584</identifier><identifier>CODEN: AJMGDA</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Adolescent ; Adult ; Aged ; Biological and medical sciences ; DNA, Mitochondrial - genetics ; Dystonia - diagnosis ; Dystonia - genetics ; Female ; Fibroblasts - chemistry ; Humans ; inherited dystonia ; LHON ; Male ; Medical sciences ; Middle Aged ; mitochondrial disease ; Muscle Spasticity - diagnosis ; Muscle Spasticity - genetics ; Nervous system (semeiology, syndromes) ; Nervous system as a whole ; Neurology ; Optic Atrophy, Hereditary, Leber - diagnosis ; Optic Atrophy, Hereditary, Leber - genetics ; Pedigree ; Point Mutation ; Putamen - metabolism</subject><ispartof>American journal of medical genetics, 2004-02, Vol.124A (4), p.372-376</ispartof><rights>Copyright © 2003 Wiley‐Liss, Inc.</rights><rights>2004 INIST-CNRS</rights><rights>Copyright 2003 Wiley-Liss, Inc.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4309-f5cf0d159b3e53f0b3fbe2d73e2b08766b9878f90d53f0fd7da2d7f1823106603</citedby><cites>FETCH-LOGICAL-c4309-f5cf0d159b3e53f0b3fbe2d73e2b08766b9878f90d53f0fd7da2d7f1823106603</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fajmg.a.20449$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fajmg.a.20449$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=15442885$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/14735584$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Tarnopolsky, Mark A.</creatorcontrib><creatorcontrib>Baker, Steven K.</creatorcontrib><creatorcontrib>Myint, Tomoko</creatorcontrib><creatorcontrib>Maxner, C.E.</creatorcontrib><creatorcontrib>Robitaille, J.</creatorcontrib><creatorcontrib>Robinson, Brian H.</creatorcontrib><title>Clinical variability in maternally inherited leber hereditary optic neuropathy with the G14459A mutation</title><title>American journal of medical genetics</title><addtitle>Am. J. Med. Genet</addtitle><description>Spasticity and dystonia have been associated with mitochondrial (mt) DNA mutations at A11696G, G14459A, and T14596A. We describe the clinical features and molecular analysis of two Caucasian pedigrees with the 14,459 guanosine (G) → adenine (A) transition. The maternally inherited Leber hereditary optic neuropathy (LHON) phenotypes showed extreme clinical variability and the only screening test that was abnormal in the patient with spasticity/dystonia was a high T2 signal in the putamen bilaterally. The male patient in the second pedigree showed features of optic neuropathy without spasticity/dystonia. These results further support that the 14,459 G → A transition mutation is causally related to LHON and spasticity/dystonia. © 2003 Wiley‐Liss, Inc.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Aged</subject><subject>Biological and medical sciences</subject><subject>DNA, Mitochondrial - genetics</subject><subject>Dystonia - diagnosis</subject><subject>Dystonia - genetics</subject><subject>Female</subject><subject>Fibroblasts - chemistry</subject><subject>Humans</subject><subject>inherited dystonia</subject><subject>LHON</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>mitochondrial disease</subject><subject>Muscle Spasticity - diagnosis</subject><subject>Muscle Spasticity - genetics</subject><subject>Nervous system (semeiology, syndromes)</subject><subject>Nervous system as a whole</subject><subject>Neurology</subject><subject>Optic Atrophy, Hereditary, Leber - diagnosis</subject><subject>Optic Atrophy, Hereditary, Leber - genetics</subject><subject>Pedigree</subject><subject>Point Mutation</subject><subject>Putamen - metabolism</subject><issn>1552-4825</issn><issn>0148-7299</issn><issn>1552-4833</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2004</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkU1v1DAQhiNERUvhxhn5AieyjL8S57hawULVFoSKOFpOMiYuTrK1Hcr-e7LdbXuD08xonpnRvG-WvaKwoADsvbnufy7MgoEQ1ZPshErJcqE4f_qQM3mcPY_xGoCDLItn2TEVJZdSiZOsW3k3uMZ48tsEZ2rnXdoSN5DeJAyD8X5XdRhcwpZ4rDGQucLWJRO2ZNwk15ABpzBuTOq25NaljqQOyZoKIasl6adkkhuHF9mRNT7iy0M8zb5__HC1-pSff1l_Xi3P80ZwqHIrGwstlVXNUXILNbc1srbkyGpQZVHUlSqVraDddW1btmbuWqoYp1AUwE-zt_u9mzDeTBiT7l1s0Hsz4DhFrYCC4vL_IAM1qyjYDL7bg00YYwxo9Sa4fv5eU9A7C_TOAm30nQUz_vqwd6p7bB_hg-Yz8OYAmDgLb4MZGhcfOSkEU0rOHN9zt87j9p9H9fLsYn1_Pt9PuZjwz8OUCb90UfJS6h-Xa_2tgK-rsyumL_hfeFSu0w</recordid><startdate>20040201</startdate><enddate>20040201</enddate><creator>Tarnopolsky, Mark A.</creator><creator>Baker, Steven K.</creator><creator>Myint, Tomoko</creator><creator>Maxner, C.E.</creator><creator>Robitaille, J.</creator><creator>Robinson, Brian H.</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Wiley-Liss</general><scope>BSCLL</scope><scope>IQODW</scope><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>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20040201</creationdate><title>Clinical variability in maternally inherited leber hereditary optic neuropathy with the G14459A mutation</title><author>Tarnopolsky, Mark A. ; Baker, Steven K. ; Myint, Tomoko ; Maxner, C.E. ; Robitaille, J. ; Robinson, Brian H.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4309-f5cf0d159b3e53f0b3fbe2d73e2b08766b9878f90d53f0fd7da2d7f1823106603</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2004</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Aged</topic><topic>Biological and medical sciences</topic><topic>DNA, Mitochondrial - genetics</topic><topic>Dystonia - diagnosis</topic><topic>Dystonia - genetics</topic><topic>Female</topic><topic>Fibroblasts - chemistry</topic><topic>Humans</topic><topic>inherited dystonia</topic><topic>LHON</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>mitochondrial disease</topic><topic>Muscle Spasticity - diagnosis</topic><topic>Muscle Spasticity - genetics</topic><topic>Nervous system (semeiology, syndromes)</topic><topic>Nervous system as a whole</topic><topic>Neurology</topic><topic>Optic Atrophy, Hereditary, Leber - diagnosis</topic><topic>Optic Atrophy, Hereditary, Leber - genetics</topic><topic>Pedigree</topic><topic>Point Mutation</topic><topic>Putamen - metabolism</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Tarnopolsky, Mark A.</creatorcontrib><creatorcontrib>Baker, Steven K.</creatorcontrib><creatorcontrib>Myint, Tomoko</creatorcontrib><creatorcontrib>Maxner, C.E.</creatorcontrib><creatorcontrib>Robitaille, J.</creatorcontrib><creatorcontrib>Robinson, Brian H.</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>American journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Tarnopolsky, Mark A.</au><au>Baker, Steven K.</au><au>Myint, Tomoko</au><au>Maxner, C.E.</au><au>Robitaille, J.</au><au>Robinson, Brian H.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Clinical variability in maternally inherited leber hereditary optic neuropathy with the G14459A mutation</atitle><jtitle>American journal of medical genetics</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>2004-02-01</date><risdate>2004</risdate><volume>124A</volume><issue>4</issue><spage>372</spage><epage>376</epage><pages>372-376</pages><issn>1552-4825</issn><issn>0148-7299</issn><eissn>1552-4833</eissn><eissn>1096-8628</eissn><coden>AJMGDA</coden><abstract>Spasticity and dystonia have been associated with mitochondrial (mt) DNA mutations at A11696G, G14459A, and T14596A. We describe the clinical features and molecular analysis of two Caucasian pedigrees with the 14,459 guanosine (G) → adenine (A) transition. The maternally inherited Leber hereditary optic neuropathy (LHON) phenotypes showed extreme clinical variability and the only screening test that was abnormal in the patient with spasticity/dystonia was a high T2 signal in the putamen bilaterally. The male patient in the second pedigree showed features of optic neuropathy without spasticity/dystonia. 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| subjects | Adolescent Adult Aged Biological and medical sciences DNA, Mitochondrial - genetics Dystonia - diagnosis Dystonia - genetics Female Fibroblasts - chemistry Humans inherited dystonia LHON Male Medical sciences Middle Aged mitochondrial disease Muscle Spasticity - diagnosis Muscle Spasticity - genetics Nervous system (semeiology, syndromes) Nervous system as a whole Neurology Optic Atrophy, Hereditary, Leber - diagnosis Optic Atrophy, Hereditary, Leber - genetics Pedigree Point Mutation Putamen - metabolism |
| title | Clinical variability in maternally inherited leber hereditary optic neuropathy with the G14459A mutation |
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