A Novel Mutation in SURF1 Causes Skipping of Exon 8 in a Patient with Cytochrome c Oxidase-Deficient Leigh Syndrome and Hypertrichosis
Leigh syndrome is a rare pediatric neurodegenerative disorder attributed to impaired mitochondrial energy metabolism. Mutations in SURF1 have been described in several patients with Leigh syndrome associated with cytochrome c oxidase deficiency. We report a new 18-bp deletion (821del18), spanning th...
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| Veröffentlicht in: | Molecular genetics and metabolism 2001-08, Vol.73 (4), p.340-343 |
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| container_title | Molecular genetics and metabolism |
| container_volume | 73 |
| creator | Williams, Siôn L Taanman, Jan-Willem Hansı́ková, Hana Houšt'ková, Hana Chowdhury, Subir Zeman, Jiřı́ Houštěk, Josef |
| description | Leigh syndrome is a rare pediatric neurodegenerative disorder attributed to impaired mitochondrial energy metabolism. Mutations in SURF1 have been described in several patients with Leigh syndrome associated with cytochrome c oxidase deficiency. We report a new 18-bp deletion (821del18), spanning the splice donor junction of exon 8 of SURF1, in an infant presenting with cytochrome c oxidase-deficient Leigh syndrome and hypertrichosis. cDNA sequencing demonstrated that this deletion results in a messenger lacking exon 8. RT-PCR experiments suggested a rapid degradation of the aberrant mRNA species from the 5′-end. |
| doi_str_mv | 10.1006/mgme.2001.3206 |
| format | Article |
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Mutations in SURF1 have been described in several patients with Leigh syndrome associated with cytochrome c oxidase deficiency. We report a new 18-bp deletion (821del18), spanning the splice donor junction of exon 8 of SURF1, in an infant presenting with cytochrome c oxidase-deficient Leigh syndrome and hypertrichosis. cDNA sequencing demonstrated that this deletion results in a messenger lacking exon 8. RT-PCR experiments suggested a rapid degradation of the aberrant mRNA species from the 5′-end.</description><identifier>ISSN: 1096-7192</identifier><identifier>EISSN: 1096-7206</identifier><identifier>DOI: 10.1006/mgme.2001.3206</identifier><identifier>PMID: 11509016</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Alternative Splicing - genetics ; Base Sequence ; Blotting, Western ; Cytochrome-c Oxidase Deficiency ; Electron Transport Complex IV - genetics ; Electron Transport Complex IV - metabolism ; exon skipping ; Exons - genetics ; Female ; Fibroblasts ; Humans ; hypertrichosis ; Hypertrichosis - enzymology ; Hypertrichosis - genetics ; Infant ; Leigh Disease - enzymology ; Leigh Disease - genetics ; Leigh syndrome ; Membrane Proteins ; mitochondrial disorder ; Mitochondrial Proteins ; Mutation - genetics ; Polymerase Chain Reaction ; Proteins - genetics ; RNA, Messenger - genetics ; RNA, Messenger - metabolism ; Sequence Deletion - genetics ; SURF1</subject><ispartof>Molecular genetics and metabolism, 2001-08, Vol.73 (4), p.340-343</ispartof><rights>2001 Academic Press</rights><rights>Copyright 2001 Academic Press.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c340t-3e3ec2919238f7bcd2699a61b1c06a7a4a965c8c9e073a075895b5110ffcf34b3</citedby><cites>FETCH-LOGICAL-c340t-3e3ec2919238f7bcd2699a61b1c06a7a4a965c8c9e073a075895b5110ffcf34b3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S1096719201932068$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27903,27904,65309</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11509016$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Williams, Siôn L</creatorcontrib><creatorcontrib>Taanman, Jan-Willem</creatorcontrib><creatorcontrib>Hansı́ková, Hana</creatorcontrib><creatorcontrib>Houšt'ková, Hana</creatorcontrib><creatorcontrib>Chowdhury, Subir</creatorcontrib><creatorcontrib>Zeman, Jiřı́</creatorcontrib><creatorcontrib>Houštěk, Josef</creatorcontrib><title>A Novel Mutation in SURF1 Causes Skipping of Exon 8 in a Patient with Cytochrome c Oxidase-Deficient Leigh Syndrome and Hypertrichosis</title><title>Molecular genetics and metabolism</title><addtitle>Mol Genet Metab</addtitle><description>Leigh syndrome is a rare pediatric neurodegenerative disorder attributed to impaired mitochondrial energy metabolism. Mutations in SURF1 have been described in several patients with Leigh syndrome associated with cytochrome c oxidase deficiency. We report a new 18-bp deletion (821del18), spanning the splice donor junction of exon 8 of SURF1, in an infant presenting with cytochrome c oxidase-deficient Leigh syndrome and hypertrichosis. cDNA sequencing demonstrated that this deletion results in a messenger lacking exon 8. RT-PCR experiments suggested a rapid degradation of the aberrant mRNA species from the 5′-end.</description><subject>Alternative Splicing - genetics</subject><subject>Base Sequence</subject><subject>Blotting, Western</subject><subject>Cytochrome-c Oxidase Deficiency</subject><subject>Electron Transport Complex IV - genetics</subject><subject>Electron Transport Complex IV - metabolism</subject><subject>exon skipping</subject><subject>Exons - genetics</subject><subject>Female</subject><subject>Fibroblasts</subject><subject>Humans</subject><subject>hypertrichosis</subject><subject>Hypertrichosis - enzymology</subject><subject>Hypertrichosis - genetics</subject><subject>Infant</subject><subject>Leigh Disease - enzymology</subject><subject>Leigh Disease - genetics</subject><subject>Leigh syndrome</subject><subject>Membrane Proteins</subject><subject>mitochondrial disorder</subject><subject>Mitochondrial Proteins</subject><subject>Mutation - genetics</subject><subject>Polymerase Chain Reaction</subject><subject>Proteins - genetics</subject><subject>RNA, Messenger - genetics</subject><subject>RNA, Messenger - metabolism</subject><subject>Sequence Deletion - genetics</subject><subject>SURF1</subject><issn>1096-7192</issn><issn>1096-7206</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2001</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp10LtOwzAUBmALgbgUVkbkiS3FThonHlG5FKlcRGG2HOekNTRxsB2gL8Bz49AiJqZzhu_80vkROqZkSAlhZ_W8hmFMCB0mMWFbaJ8SzqIs7Nu_O-XxHjpw7iUomvLRLtoLk3BC2T76Osd35h2W-Lbz0mvTYN3g2fPjFcVj2TlwePaq21Y3c2wqfPkZQN4TiR8Ch8bjD-0XeLzyRi2sqQErfP-pS-kguoBKqx8zBT1f4NmqKX-IbEo8WbVgvdVqYZx2h2inkksHR5s5QM9Xl0_jSTS9v74Zn08jlYyIjxJIQMU8fJTkVVaoMmacS0YLqgiTmRxJzlKVKw4kSyTJ0pynRUopqSpVJaMiGaDTdW5rzVsHzotaOwXLpWzAdE5kwbKY8ACHa6iscc5CJVqra2lXghLRNy_65kXfvOibDwcnm-SuqKH845uqA8jXAMJ_7xqscH05CkptQXlRGv1f9jcK4ZIu</recordid><startdate>20010801</startdate><enddate>20010801</enddate><creator>Williams, Siôn L</creator><creator>Taanman, Jan-Willem</creator><creator>Hansı́ková, Hana</creator><creator>Houšt'ková, Hana</creator><creator>Chowdhury, Subir</creator><creator>Zeman, Jiřı́</creator><creator>Houštěk, Josef</creator><general>Elsevier Inc</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>20010801</creationdate><title>A Novel Mutation in SURF1 Causes Skipping of Exon 8 in a Patient with Cytochrome c Oxidase-Deficient Leigh Syndrome and Hypertrichosis</title><author>Williams, Siôn L ; Taanman, Jan-Willem ; Hansı́ková, Hana ; Houšt'ková, Hana ; Chowdhury, Subir ; Zeman, Jiřı́ ; Houštěk, Josef</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c340t-3e3ec2919238f7bcd2699a61b1c06a7a4a965c8c9e073a075895b5110ffcf34b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2001</creationdate><topic>Alternative Splicing - genetics</topic><topic>Base Sequence</topic><topic>Blotting, Western</topic><topic>Cytochrome-c Oxidase Deficiency</topic><topic>Electron Transport Complex IV - genetics</topic><topic>Electron Transport Complex IV - metabolism</topic><topic>exon skipping</topic><topic>Exons - genetics</topic><topic>Female</topic><topic>Fibroblasts</topic><topic>Humans</topic><topic>hypertrichosis</topic><topic>Hypertrichosis - enzymology</topic><topic>Hypertrichosis - genetics</topic><topic>Infant</topic><topic>Leigh Disease - enzymology</topic><topic>Leigh Disease - genetics</topic><topic>Leigh syndrome</topic><topic>Membrane Proteins</topic><topic>mitochondrial disorder</topic><topic>Mitochondrial Proteins</topic><topic>Mutation - genetics</topic><topic>Polymerase Chain Reaction</topic><topic>Proteins - genetics</topic><topic>RNA, Messenger - genetics</topic><topic>RNA, Messenger - metabolism</topic><topic>Sequence Deletion - genetics</topic><topic>SURF1</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Williams, Siôn L</creatorcontrib><creatorcontrib>Taanman, Jan-Willem</creatorcontrib><creatorcontrib>Hansı́ková, Hana</creatorcontrib><creatorcontrib>Houšt'ková, Hana</creatorcontrib><creatorcontrib>Chowdhury, Subir</creatorcontrib><creatorcontrib>Zeman, Jiřı́</creatorcontrib><creatorcontrib>Houštěk, Josef</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>Molecular genetics and metabolism</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Williams, Siôn L</au><au>Taanman, Jan-Willem</au><au>Hansı́ková, Hana</au><au>Houšt'ková, Hana</au><au>Chowdhury, Subir</au><au>Zeman, Jiřı́</au><au>Houštěk, Josef</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A Novel Mutation in SURF1 Causes Skipping of Exon 8 in a Patient with Cytochrome c Oxidase-Deficient Leigh Syndrome and Hypertrichosis</atitle><jtitle>Molecular genetics and metabolism</jtitle><addtitle>Mol Genet Metab</addtitle><date>2001-08-01</date><risdate>2001</risdate><volume>73</volume><issue>4</issue><spage>340</spage><epage>343</epage><pages>340-343</pages><issn>1096-7192</issn><eissn>1096-7206</eissn><abstract>Leigh syndrome is a rare pediatric neurodegenerative disorder attributed to impaired mitochondrial energy metabolism. Mutations in SURF1 have been described in several patients with Leigh syndrome associated with cytochrome c oxidase deficiency. We report a new 18-bp deletion (821del18), spanning the splice donor junction of exon 8 of SURF1, in an infant presenting with cytochrome c oxidase-deficient Leigh syndrome and hypertrichosis. cDNA sequencing demonstrated that this deletion results in a messenger lacking exon 8. RT-PCR experiments suggested a rapid degradation of the aberrant mRNA species from the 5′-end.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>11509016</pmid><doi>10.1006/mgme.2001.3206</doi><tpages>4</tpages></addata></record> |
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| ispartof | Molecular genetics and metabolism, 2001-08, Vol.73 (4), p.340-343 |
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| source | MEDLINE; ScienceDirect Journals (5 years ago - present) |
| subjects | Alternative Splicing - genetics Base Sequence Blotting, Western Cytochrome-c Oxidase Deficiency Electron Transport Complex IV - genetics Electron Transport Complex IV - metabolism exon skipping Exons - genetics Female Fibroblasts Humans hypertrichosis Hypertrichosis - enzymology Hypertrichosis - genetics Infant Leigh Disease - enzymology Leigh Disease - genetics Leigh syndrome Membrane Proteins mitochondrial disorder Mitochondrial Proteins Mutation - genetics Polymerase Chain Reaction Proteins - genetics RNA, Messenger - genetics RNA, Messenger - metabolism Sequence Deletion - genetics SURF1 |
| title | A Novel Mutation in SURF1 Causes Skipping of Exon 8 in a Patient with Cytochrome c Oxidase-Deficient Leigh Syndrome and Hypertrichosis |
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