Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in a French family
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid-storage disease caused by mutations in the sterol 27-hydroxylase gene (CYP27). So far several mutations causing CTX have been identified and characterized. A new mutation creating an insertion of cytosine at position 6 in the cDNA,...
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| Veröffentlicht in: | Human genetics 1995-02, Vol.95 (2), p.238-240 |
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| container_title | Human genetics |
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| creator | SERGEV, H RESHEF, A CLAVEY, V DELBART, C ROUTIER, G LEITERSDORF, E |
| description | Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid-storage disease caused by mutations in the sterol 27-hydroxylase gene (CYP27). So far several mutations causing CTX have been identified and characterized. A new mutation creating an insertion of cytosine at position 6 in the cDNA, which is expected to result in a frameshift and a premature termination codon at codon 179, has been identified in a French family. The mutation creates a new site for the restriction endonuclease HaeIII. |
| doi_str_mv | 10.1007/BF00209413 |
| format | Article |
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So far several mutations causing CTX have been identified and characterized. A new mutation creating an insertion of cytosine at position 6 in the cDNA, which is expected to result in a frameshift and a premature termination codon at codon 179, has been identified in a French family. 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So far several mutations causing CTX have been identified and characterized. A new mutation creating an insertion of cytosine at position 6 in the cDNA, which is expected to result in a frameshift and a premature termination codon at codon 179, has been identified in a French family. The mutation creates a new site for the restriction endonuclease HaeIII.</description><subject>Adult</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Brain Diseases - genetics</subject><subject>Child</subject><subject>Cholestanetriol 26-Monooxygenase</subject><subject>Codon, Terminator - genetics</subject><subject>Cytochrome P-450 Enzyme System - genetics</subject><subject>Errors of metabolism</subject><subject>Female</subject><subject>France</subject><subject>Humans</subject><subject>Lipids (lysosomal enzyme disorders, storage diseases)</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Molecular Sequence Data</subject><subject>Pedigree</subject><subject>Steroid Hydroxylases - genetics</subject><subject>Xanthomatosis - genetics</subject><issn>0340-6717</issn><issn>1432-1203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1995</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpFkE1LJDEURYMo2qNuZi9kIS6E0nxVJb1UsWcEQRe6LlLJi52hKtEkJfa_N2LjbPIg97zD4yL0m5ILSoi8vF4RwshSUL6DFlRw1lBG-C5aEC5I00kqD9CvnP8RQtsla_fRvlRdXewW6P0xwaTLnAAXSJMPuvgYsIm2vrrgsgacaxJHzGSz3tgUPzajzoBfIAA2es6QsYEEQ4oFgvUhzhl_6FDWsYpj9hn7qsKrBMGssdOTHzdHaM_pMcPxdh6i59Xt083f5v7hz93N1X1jOKWlUZwoYF2n1NBR46S2rRMgmLOWEanNslXm67u1ilplOuYG6rQQwyAE4YbzQ3T27X1N8W2GXPrJZwPjqAPUO3spqVBMiAqef4MmxZwTuP41-UmnTU9J_1Vy_7_kCp9srfMwgf1Bt63W_HSb62z06JIOxucfjHO1ZJLzT4aYhbM</recordid><startdate>19950201</startdate><enddate>19950201</enddate><creator>SERGEV, H</creator><creator>RESHEF, A</creator><creator>CLAVEY, V</creator><creator>DELBART, C</creator><creator>ROUTIER, G</creator><creator>LEITERSDORF, E</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>19950201</creationdate><title>Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in a French family</title><author>SERGEV, H ; RESHEF, A ; CLAVEY, V ; DELBART, C ; ROUTIER, G ; LEITERSDORF, E</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c311t-8308e26688b61cf7ad5f4e42fdd207ac958ccf7a5d81d8c62fb1fa44bb4403c33</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1995</creationdate><topic>Adult</topic><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>Brain Diseases - genetics</topic><topic>Child</topic><topic>Cholestanetriol 26-Monooxygenase</topic><topic>Codon, Terminator - genetics</topic><topic>Cytochrome P-450 Enzyme System - genetics</topic><topic>Errors of metabolism</topic><topic>Female</topic><topic>France</topic><topic>Humans</topic><topic>Lipids (lysosomal enzyme disorders, storage diseases)</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Molecular Sequence Data</topic><topic>Pedigree</topic><topic>Steroid Hydroxylases - genetics</topic><topic>Xanthomatosis - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>SERGEV, H</creatorcontrib><creatorcontrib>RESHEF, A</creatorcontrib><creatorcontrib>CLAVEY, V</creatorcontrib><creatorcontrib>DELBART, C</creatorcontrib><creatorcontrib>ROUTIER, G</creatorcontrib><creatorcontrib>LEITERSDORF, E</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>SERGEV, H</au><au>RESHEF, A</au><au>CLAVEY, V</au><au>DELBART, C</au><au>ROUTIER, G</au><au>LEITERSDORF, E</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in a French family</atitle><jtitle>Human genetics</jtitle><addtitle>Hum Genet</addtitle><date>1995-02-01</date><risdate>1995</risdate><volume>95</volume><issue>2</issue><spage>238</spage><epage>240</epage><pages>238-240</pages><issn>0340-6717</issn><eissn>1432-1203</eissn><coden>HUGEDQ</coden><abstract>Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid-storage disease caused by mutations in the sterol 27-hydroxylase gene (CYP27). So far several mutations causing CTX have been identified and characterized. A new mutation creating an insertion of cytosine at position 6 in the cDNA, which is expected to result in a frameshift and a premature termination codon at codon 179, has been identified in a French family. The mutation creates a new site for the restriction endonuclease HaeIII.</abstract><cop>Heidelberg</cop><cop>Berlin</cop><cop>New York, NY</cop><pub>Springer</pub><pmid>7860076</pmid><doi>10.1007/BF00209413</doi><tpages>3</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0340-6717 |
| ispartof | Human genetics, 1995-02, Vol.95 (2), p.238-240 |
| issn | 0340-6717 1432-1203 |
| language | eng |
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| source | MEDLINE; SpringerLink Journals - AutoHoldings |
| subjects | Adult Base Sequence Biological and medical sciences Brain Diseases - genetics Child Cholestanetriol 26-Monooxygenase Codon, Terminator - genetics Cytochrome P-450 Enzyme System - genetics Errors of metabolism Female France Humans Lipids (lysosomal enzyme disorders, storage diseases) Male Medical sciences Metabolic diseases Molecular Sequence Data Pedigree Steroid Hydroxylases - genetics Xanthomatosis - genetics |
| title | Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in a French family |
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