A point mutation in exon 3 (His 107→Tyr) in two unrelated Japanese patients with carbonic anhydrase II deficiency with central nervous system involvement
We have analyzed two unrelated Japanese patients with carbonic anhydrase II deficiency born to consanguineous parents. We have identified the same mutation as that reported to be homozygous in a Belgian family and compound heterozygous in an American family. It comprises to C-to-T transition that re...
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| Veröffentlicht in: | Human genetics 1996-04, Vol.97 (4), p.435-437 |
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| container_end_page | 437 |
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| container_issue | 4 |
| container_start_page | 435 |
| container_title | Human genetics |
| container_volume | 97 |
| creator | SODA, H YUKIZANE, S YOSHIDA, I KOGA, Y ARAMAKI, S KATO, H |
| description | We have analyzed two unrelated Japanese patients with carbonic anhydrase II deficiency born to consanguineous parents. We have identified the same mutation as that reported to be homozygous in a Belgian family and compound heterozygous in an American family. It comprises to C-to-T transition that results in the amino acid substitution of Tyr (TAT) for His (CAT) at position 107. This point mutation creates an AccI site that can be conveniently screened by the polymerase chain reaction/restriction fragment length polymorphism method using a restriction enzyme for gene tracking. Our patients exhibit severe mental retardation, not seen in the Belgian and American patients. |
| doi_str_mv | 10.1007/BF02267062 |
| format | Article |
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We have identified the same mutation as that reported to be homozygous in a Belgian family and compound heterozygous in an American family. It comprises to C-to-T transition that results in the amino acid substitution of Tyr (TAT) for His (CAT) at position 107. This point mutation creates an AccI site that can be conveniently screened by the polymerase chain reaction/restriction fragment length polymorphism method using a restriction enzyme for gene tracking. Our patients exhibit severe mental retardation, not seen in the Belgian and American patients.</description><identifier>ISSN: 0340-6717</identifier><identifier>EISSN: 1432-1203</identifier><identifier>DOI: 10.1007/BF02267062</identifier><identifier>PMID: 8834238</identifier><identifier>CODEN: HUGEDQ</identifier><language>eng</language><publisher>Heidelberg: Springer</publisher><subject>Biological and medical sciences ; Carbonic Anhydrases - deficiency ; Carbonic Anhydrases - genetics ; Central Nervous System Diseases - genetics ; Errors of metabolism ; Exons - genetics ; Humans ; Japan ; Medical sciences ; Metabolic diseases ; Miscellaneous hereditary metabolic disorders ; Point Mutation ; Polymerase Chain Reaction</subject><ispartof>Human genetics, 1996-04, Vol.97 (4), p.435-437</ispartof><rights>1996 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c226t-d3875870c5f36b538c4363d15e76be34b58785ef110f041ac8554b36f1985a7d3</citedby><cites>FETCH-LOGICAL-c226t-d3875870c5f36b538c4363d15e76be34b58785ef110f041ac8554b36f1985a7d3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=3002419$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8834238$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>SODA, H</creatorcontrib><creatorcontrib>YUKIZANE, S</creatorcontrib><creatorcontrib>YOSHIDA, I</creatorcontrib><creatorcontrib>KOGA, Y</creatorcontrib><creatorcontrib>ARAMAKI, S</creatorcontrib><creatorcontrib>KATO, H</creatorcontrib><title>A point mutation in exon 3 (His 107→Tyr) in two unrelated Japanese patients with carbonic anhydrase II deficiency with central nervous system involvement</title><title>Human genetics</title><addtitle>Hum Genet</addtitle><description>We have analyzed two unrelated Japanese patients with carbonic anhydrase II deficiency born to consanguineous parents. We have identified the same mutation as that reported to be homozygous in a Belgian family and compound heterozygous in an American family. It comprises to C-to-T transition that results in the amino acid substitution of Tyr (TAT) for His (CAT) at position 107. This point mutation creates an AccI site that can be conveniently screened by the polymerase chain reaction/restriction fragment length polymorphism method using a restriction enzyme for gene tracking. Our patients exhibit severe mental retardation, not seen in the Belgian and American patients.</description><subject>Biological and medical sciences</subject><subject>Carbonic Anhydrases - deficiency</subject><subject>Carbonic Anhydrases - genetics</subject><subject>Central Nervous System Diseases - genetics</subject><subject>Errors of metabolism</subject><subject>Exons - genetics</subject><subject>Humans</subject><subject>Japan</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Miscellaneous hereditary metabolic disorders</subject><subject>Point Mutation</subject><subject>Polymerase Chain Reaction</subject><issn>0340-6717</issn><issn>1432-1203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1996</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpFkb1O3TAUgC0Eore0CzuSB4QoUqh_Y9-RolJuhcRC58hxToRR4qS2c2leoA_Aytv1SWpEBNMZvu_8I3RIyTklRH39dkUYKxUp2Q5aUcFZQRnhu2hFuCBFqaj6gD7G-EAIlWsm99G-1lwwrlfo-QKPg_MJ91MyyQ0eO4_hT44cn167iClR__4-3c3hywtJjwOefIDOJGjwTzMaDxHwmFPBp4gfXbrH1oR68M5i4-_nJpgsbDa4gdbZbNl5sXJCMB32ELbDFHGcY4I-N9kO3Rb6TD-hvdZ0ET4v8QD9uvp-d3ld3Nz-2Fxe3BQ2b52KhmsltSJWtrysJddW8JI3VIIqa-CizlBLaCklLRHUWC2lqHnZ0rWWRjX8AJ281h3D8HuCmKreRQtdl5fLk1VKcyUFU1k8exVtGGIM0FZjcL0Jc0VJ9fKJ6v0TWT5aqk51D82bupw-8-OFm2hN1wbjrYtvGieECbrm_wFtSpFe</recordid><startdate>199604</startdate><enddate>199604</enddate><creator>SODA, H</creator><creator>YUKIZANE, S</creator><creator>YOSHIDA, I</creator><creator>KOGA, Y</creator><creator>ARAMAKI, S</creator><creator>KATO, H</creator><general>Springer</general><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>7X8</scope></search><sort><creationdate>199604</creationdate><title>A point mutation in exon 3 (His 107→Tyr) in two unrelated Japanese patients with carbonic anhydrase II deficiency with central nervous system involvement</title><author>SODA, H ; YUKIZANE, S ; YOSHIDA, I ; KOGA, Y ; ARAMAKI, S ; KATO, H</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c226t-d3875870c5f36b538c4363d15e76be34b58785ef110f041ac8554b36f1985a7d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1996</creationdate><topic>Biological and medical sciences</topic><topic>Carbonic Anhydrases - deficiency</topic><topic>Carbonic Anhydrases - genetics</topic><topic>Central Nervous System Diseases - genetics</topic><topic>Errors of metabolism</topic><topic>Exons - genetics</topic><topic>Humans</topic><topic>Japan</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Miscellaneous hereditary metabolic disorders</topic><topic>Point Mutation</topic><topic>Polymerase Chain Reaction</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>SODA, H</creatorcontrib><creatorcontrib>YUKIZANE, S</creatorcontrib><creatorcontrib>YOSHIDA, I</creatorcontrib><creatorcontrib>KOGA, Y</creatorcontrib><creatorcontrib>ARAMAKI, S</creatorcontrib><creatorcontrib>KATO, H</creatorcontrib><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>MEDLINE - Academic</collection><jtitle>Human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>SODA, H</au><au>YUKIZANE, S</au><au>YOSHIDA, I</au><au>KOGA, Y</au><au>ARAMAKI, S</au><au>KATO, H</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A point mutation in exon 3 (His 107→Tyr) in two unrelated Japanese patients with carbonic anhydrase II deficiency with central nervous system involvement</atitle><jtitle>Human genetics</jtitle><addtitle>Hum Genet</addtitle><date>1996-04</date><risdate>1996</risdate><volume>97</volume><issue>4</issue><spage>435</spage><epage>437</epage><pages>435-437</pages><issn>0340-6717</issn><eissn>1432-1203</eissn><coden>HUGEDQ</coden><abstract>We have analyzed two unrelated Japanese patients with carbonic anhydrase II deficiency born to consanguineous parents. We have identified the same mutation as that reported to be homozygous in a Belgian family and compound heterozygous in an American family. It comprises to C-to-T transition that results in the amino acid substitution of Tyr (TAT) for His (CAT) at position 107. This point mutation creates an AccI site that can be conveniently screened by the polymerase chain reaction/restriction fragment length polymorphism method using a restriction enzyme for gene tracking. Our patients exhibit severe mental retardation, not seen in the Belgian and American patients.</abstract><cop>Heidelberg</cop><cop>Berlin</cop><cop>New York, NY</cop><pub>Springer</pub><pmid>8834238</pmid><doi>10.1007/BF02267062</doi><tpages>3</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0340-6717 |
| ispartof | Human genetics, 1996-04, Vol.97 (4), p.435-437 |
| issn | 0340-6717 1432-1203 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_78375427 |
| source | MEDLINE; SpringerLink Journals - AutoHoldings |
| subjects | Biological and medical sciences Carbonic Anhydrases - deficiency Carbonic Anhydrases - genetics Central Nervous System Diseases - genetics Errors of metabolism Exons - genetics Humans Japan Medical sciences Metabolic diseases Miscellaneous hereditary metabolic disorders Point Mutation Polymerase Chain Reaction |
| title | A point mutation in exon 3 (His 107→Tyr) in two unrelated Japanese patients with carbonic anhydrase II deficiency with central nervous system involvement |
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