Cystathionine β‐synthase mutations in homocystinuria
Identifieur interne : 00C531 ( Main/Exploration ); précédent : 00C530; suivant : 00C532Cystathionine β‐synthase mutations in homocystinuria
Auteurs : Jan P. Kraus [États-Unis] ; Miroslav Janošík [République tchèque] ; Viktor Kožich [République tchèque] ; Roseann Mandell [États-Unis] ; Vivian Shih [États-Unis] ; M. P. Sperandeo [Italie] ; Gianfranco Sebastio [Italie] ; Raffaella De Franchis [Italie] ; Generoso Andria [Italie] ; Leo A. J. Kluijtmans [Pays-Bas] ; Henk Blom [Pays-Bas] ; Godfried H. J. Boers [Pays-Bas] ; Ross B. Gordon [Australie] ; Pierre Kamoun [France] ; Michael Y. Tsai [États-Unis] ; Warren D. Kruger [États-Unis] ; Hans G. Koch [Allemagne] ; Toshihiro Ohura [Japon] ; Mette Gaustadnes [Danemark]Source :
- Human Mutation [ 1059-7794 ] ; 1999.
English descriptors
- KwdEn :
- Allele, Cdna, Coding region, Coude, Cystathionine, Czech, Czech republic, Dawson, Deletion, Exon, Franchis, Gaustadnes, Genet, Homocysteine, Homocystinuria, Homocystinuric, Homocystinuric alleles, Homocystinuric patients, Human cystathionine, Inher metab, Insertion, Kluijtmans, Koch, Kozich, Kraus, Mild moder, Missense, Missense mutations, Moder, Molecular basis, Mrna, Mutat, Mutation, Novel mutations, Observ, Phenotype, Point mutations, Polymorphism, Pyridoxine, Sebastio, Severe moder, Shih, Sperandeo, Synthase, Synthase deficiency, Synthase gene, Tsai, Unpub.
- Teeft :
- Allele, Cdna, Coding region, Coude, Cystathionine, Czech, Czech republic, Dawson, Deletion, Exon, Franchis, Gaustadnes, Genet, Homocysteine, Homocystinuria, Homocystinuric, Homocystinuric alleles, Homocystinuric patients, Human cystathionine, Inher metab, Insertion, Kluijtmans, Koch, Kozich, Kraus, Mild moder, Missense, Missense mutations, Moder, Molecular basis, Mrna, Mutat, Mutation, Novel mutations, Observ, Phenotype, Point mutations, Polymorphism, Pyridoxine, Sebastio, Severe moder, Shih, Sperandeo, Synthase, Synthase deficiency, Synthase gene, Tsai, Unpub.
Abstract
The major cause of homocystinuria is mutation of the gene encoding the enzyme cystathionine β‐synthase (CBS). Deficiency of CBS activity results in elevated levels of homocysteine as well as methionine in plasma and urine and decreased levels of cystathionine and cysteine. Ninety‐two different disease‐associated mutations have been identified in the CBS gene in 310 examined homocystinuric alleles in more than a dozen laboratories around the world. Most of these mutations are missense, and the vast majority of these are private mutations. The two most frequently encountered of these mutations are the pyridoxine‐responsive I278T and the pyridoxine‐nonresponsive G307S. Mutations due to deaminations of methylcytosines represent 53% of all point substitutions in the coding region of the CBS gene. Hum Mutat 13:362–375, 1999. © 1999 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/(SICI)1098-1004(1999)13:5<362::AID-HUMU4>3.0.CO;2-K
Affiliations:
- Allemagne, Australie, Danemark, France, Italie, Japon, Pays-Bas, République tchèque, États-Unis
- Bohême centrale, Colorado, Gueldre, Massachusetts, Minnesota, Pennsylvanie, Région de Tōhoku, Île-de-France
- Nimègue, Paris, Prague, Sendai
- Université du Tōhoku
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Le document en format XML
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Kraus</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Colorado</region></placeName><wicri:cityArea>Department of Pediatrics, University of Colorado School of Medicine, Denver</wicri:cityArea></affiliation><affiliation wicri:level="1"><country wicri:rule="url">États-Unis</country></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Colorado</region></placeName><wicri:cityArea>Correspondence address: Department of Pediatrics C233, University of Colorado School of Medicine, 4200 E.9th Avenue, Denver</wicri:cityArea></affiliation></author><author><name sortKey="Janosik, Miroslav" sort="Janosik, Miroslav" uniqKey="Janosik M" first="Miroslav" last="Janošík">Miroslav Janošík</name><affiliation wicri:level="3"><country xml:lang="fr">République tchèque</country><wicri:regionArea>Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague</wicri:regionArea><placeName><settlement type="city">Prague</settlement><region type="région" nuts="2">Bohême centrale</region></placeName></affiliation></author><author><name sortKey="Kozich, Viktor" sort="Kozich, Viktor" uniqKey="Kozich V" first="Viktor" last="Kožich">Viktor Kožich</name><affiliation wicri:level="3"><country xml:lang="fr">République tchèque</country><wicri:regionArea>Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague</wicri:regionArea><placeName><settlement type="city">Prague</settlement><region type="région" nuts="2">Bohême centrale</region></placeName></affiliation></author><author><name sortKey="Mandell, Roseann" sort="Mandell, Roseann" uniqKey="Mandell R" first="Roseann" last="Mandell">Roseann Mandell</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Neurology, Massachusetts General Hospital, Boston</wicri:cityArea></affiliation></author><author><name sortKey="Shih, Vivian" sort="Shih, Vivian" uniqKey="Shih V" first="Vivian" last="Shih">Vivian Shih</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Neurology, Massachusetts General Hospital, Boston</wicri:cityArea></affiliation></author><author><name sortKey="Sperandeo, M P" sort="Sperandeo, M P" uniqKey="Sperandeo M" first="M. P." last="Sperandeo">M. P. Sperandeo</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Pediatrics, Federico II University, Naples</wicri:regionArea><wicri:noRegion>Naples</wicri:noRegion></affiliation></author><author><name sortKey="Sebastio, Gianfranco" sort="Sebastio, Gianfranco" uniqKey="Sebastio G" first="Gianfranco" last="Sebastio">Gianfranco Sebastio</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Pediatrics, Federico II University, Naples</wicri:regionArea><wicri:noRegion>Naples</wicri:noRegion></affiliation></author><author><name sortKey="De Franchis, Raffaella" sort="De Franchis, Raffaella" uniqKey="De Franchis R" first="Raffaella" last="De Franchis">Raffaella De Franchis</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Pediatrics, Federico II University, Naples</wicri:regionArea><wicri:noRegion>Naples</wicri:noRegion></affiliation></author><author><name sortKey="Andria, Generoso" sort="Andria, Generoso" uniqKey="Andria G" first="Generoso" last="Andria">Generoso Andria</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Pediatrics, Federico II University, Naples</wicri:regionArea><wicri:noRegion>Naples</wicri:noRegion></affiliation></author><author><name sortKey="Kluijtmans, Leo A J" sort="Kluijtmans, Leo A J" uniqKey="Kluijtmans L" first="Leo A. J." last="Kluijtmans">Leo A. J. Kluijtmans</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Departments of Pediatrics and Internal Medicine, University Hospital Nijmegen, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Blom, Henk" sort="Blom, Henk" uniqKey="Blom H" first="Henk" last="Blom">Henk Blom</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Departments of Pediatrics and Internal Medicine, University Hospital Nijmegen, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Boers, Godfried H J" sort="Boers, Godfried H J" uniqKey="Boers G" first="Godfried H. J." last="Boers">Godfried H. J. Boers</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Departments of Pediatrics and Internal Medicine, University Hospital Nijmegen, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Gordon, Ross B" sort="Gordon, Ross B" uniqKey="Gordon R" first="Ross B." last="Gordon">Ross B. Gordon</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Medicine, University of Queensland, Princess Alexandra Hospital, Brisbane</wicri:regionArea><wicri:noRegion>Brisbane</wicri:noRegion></affiliation></author><author><name sortKey="Kamoun, Pierre" sort="Kamoun, Pierre" uniqKey="Kamoun P" first="Pierre" last="Kamoun">Pierre Kamoun</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Biochimie Genetique, Hôpital Necker‐Enfants Malades, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Tsai, Michael Y" sort="Tsai, Michael Y" uniqKey="Tsai M" first="Michael Y." last="Tsai">Michael Y. Tsai</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Minnesota</region></placeName><wicri:cityArea>Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis</wicri:cityArea></affiliation></author><author><name sortKey="Kruger, Warren D" sort="Kruger, Warren D" uniqKey="Kruger W" first="Warren D." last="Kruger">Warren D. Kruger</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Division of Population Science, Fox Chase Cancer Center, Philadelphia</wicri:cityArea></affiliation></author><author><name sortKey="Koch, Hans G" sort="Koch, Hans G" uniqKey="Koch H" first="Hans G." last="Koch">Hans G. Koch</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Klinik fuer Kinderheilkunde, Westfaelische Wilhelms‐University, Muenster</wicri:regionArea><wicri:noRegion>Muenster</wicri:noRegion><wicri:noRegion>Muenster</wicri:noRegion></affiliation></author><author><name sortKey="Ohura, Toshihiro" sort="Ohura, Toshihiro" uniqKey="Ohura T" first="Toshihiro" last="Ohura">Toshihiro Ohura</name><affiliation wicri:level="4"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Tohoku University, Sendai</wicri:regionArea><orgName type="university">Université du Tōhoku</orgName><placeName><settlement type="city">Sendai</settlement><region type="province">Région de Tōhoku</region></placeName></affiliation></author><author><name sortKey="Gaustadnes, Mette" sort="Gaustadnes, Mette" uniqKey="Gaustadnes M" first="Mette" last="Gaustadnes">Mette Gaustadnes</name><affiliation wicri:level="1"><country xml:lang="fr">Danemark</country><wicri:regionArea>Department of Clinical Chemistry, Skejby University Hospital, Aarhus</wicri:regionArea><wicri:noRegion>Aarhus</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">Human Mutation</title><title level="j" type="alt">HUMAN MUTATION</title><idno type="ISSN">1059-7794</idno><idno type="eISSN">1098-1004</idno><imprint><biblScope unit="vol">13</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="362">362</biblScope><biblScope unit="page" to="375">375</biblScope><biblScope unit="page-count">14</biblScope><publisher>John Wiley & Sons, Inc.</publisher><pubPlace>New York</pubPlace><date type="published" when="1999">1999</date></imprint><idno type="ISSN">1059-7794</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1059-7794</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Allele</term><term>Cdna</term><term>Coding region</term><term>Coude</term><term>Cystathionine</term><term>Czech</term><term>Czech republic</term><term>Dawson</term><term>Deletion</term><term>Exon</term><term>Franchis</term><term>Gaustadnes</term><term>Genet</term><term>Homocysteine</term><term>Homocystinuria</term><term>Homocystinuric</term><term>Homocystinuric alleles</term><term>Homocystinuric patients</term><term>Human cystathionine</term><term>Inher metab</term><term>Insertion</term><term>Kluijtmans</term><term>Koch</term><term>Kozich</term><term>Kraus</term><term>Mild moder</term><term>Missense</term><term>Missense mutations</term><term>Moder</term><term>Molecular basis</term><term>Mrna</term><term>Mutat</term><term>Mutation</term><term>Novel mutations</term><term>Observ</term><term>Phenotype</term><term>Point mutations</term><term>Polymorphism</term><term>Pyridoxine</term><term>Sebastio</term><term>Severe moder</term><term>Shih</term><term>Sperandeo</term><term>Synthase</term><term>Synthase deficiency</term><term>Synthase gene</term><term>Tsai</term><term>Unpub</term></keywords><keywords scheme="Teeft" xml:lang="en"><term>Allele</term><term>Cdna</term><term>Coding region</term><term>Coude</term><term>Cystathionine</term><term>Czech</term><term>Czech republic</term><term>Dawson</term><term>Deletion</term><term>Exon</term><term>Franchis</term><term>Gaustadnes</term><term>Genet</term><term>Homocysteine</term><term>Homocystinuria</term><term>Homocystinuric</term><term>Homocystinuric alleles</term><term>Homocystinuric patients</term><term>Human cystathionine</term><term>Inher metab</term><term>Insertion</term><term>Kluijtmans</term><term>Koch</term><term>Kozich</term><term>Kraus</term><term>Mild moder</term><term>Missense</term><term>Missense mutations</term><term>Moder</term><term>Molecular basis</term><term>Mrna</term><term>Mutat</term><term>Mutation</term><term>Novel mutations</term><term>Observ</term><term>Phenotype</term><term>Point mutations</term><term>Polymorphism</term><term>Pyridoxine</term><term>Sebastio</term><term>Severe moder</term><term>Shih</term><term>Sperandeo</term><term>Synthase</term><term>Synthase deficiency</term><term>Synthase gene</term><term>Tsai</term><term>Unpub</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The major cause of homocystinuria is mutation of the gene encoding the enzyme cystathionine β‐synthase (CBS). Deficiency of CBS activity results in elevated levels of homocysteine as well as methionine in plasma and urine and decreased levels of cystathionine and cysteine. Ninety‐two different disease‐associated mutations have been identified in the CBS gene in 310 examined homocystinuric alleles in more than a dozen laboratories around the world. Most of these mutations are missense, and the vast majority of these are private mutations. The two most frequently encountered of these mutations are the pyridoxine‐responsive I278T and the pyridoxine‐nonresponsive G307S. Mutations due to deaminations of methylcytosines represent 53% of all point substitutions in the coding region of the CBS gene. Hum Mutat 13:362–375, 1999. © 1999 Wiley‐Liss, Inc.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>Danemark</li><li>France</li><li>Italie</li><li>Japon</li><li>Pays-Bas</li><li>République tchèque</li><li>États-Unis</li></country><region><li>Bohême centrale</li><li>Colorado</li><li>Gueldre</li><li>Massachusetts</li><li>Minnesota</li><li>Pennsylvanie</li><li>Région de Tōhoku</li><li>Île-de-France</li></region><settlement><li>Nimègue</li><li>Paris</li><li>Prague</li><li>Sendai</li></settlement><orgName><li>Université du Tōhoku</li></orgName></list><tree><country name="États-Unis"><region name="Colorado"><name sortKey="Kraus, Jan P" sort="Kraus, Jan P" uniqKey="Kraus J" first="Jan P." last="Kraus">Jan P. Kraus</name></region><name sortKey="Kraus, Jan P" sort="Kraus, Jan P" uniqKey="Kraus J" first="Jan P." last="Kraus">Jan P. Kraus</name><name sortKey="Kraus, Jan P" sort="Kraus, Jan P" uniqKey="Kraus J" first="Jan P." last="Kraus">Jan P. Kraus</name><name sortKey="Kruger, Warren D" sort="Kruger, Warren D" uniqKey="Kruger W" first="Warren D." last="Kruger">Warren D. Kruger</name><name sortKey="Mandell, Roseann" sort="Mandell, Roseann" uniqKey="Mandell R" first="Roseann" last="Mandell">Roseann Mandell</name><name sortKey="Shih, Vivian" sort="Shih, Vivian" uniqKey="Shih V" first="Vivian" last="Shih">Vivian Shih</name><name sortKey="Tsai, Michael Y" sort="Tsai, Michael Y" uniqKey="Tsai M" first="Michael Y." last="Tsai">Michael Y. Tsai</name></country><country name="République tchèque"><region name="Bohême centrale"><name sortKey="Janosik, Miroslav" sort="Janosik, Miroslav" uniqKey="Janosik M" first="Miroslav" last="Janošík">Miroslav Janošík</name></region><name sortKey="Kozich, Viktor" sort="Kozich, Viktor" uniqKey="Kozich V" first="Viktor" last="Kožich">Viktor Kožich</name></country><country name="Italie"><noRegion><name sortKey="Sperandeo, M P" sort="Sperandeo, M P" uniqKey="Sperandeo M" first="M. P." last="Sperandeo">M. P. Sperandeo</name></noRegion><name sortKey="Andria, Generoso" sort="Andria, Generoso" uniqKey="Andria G" first="Generoso" last="Andria">Generoso Andria</name><name sortKey="De Franchis, Raffaella" sort="De Franchis, Raffaella" uniqKey="De Franchis R" first="Raffaella" last="De Franchis">Raffaella De Franchis</name><name sortKey="Sebastio, Gianfranco" sort="Sebastio, Gianfranco" uniqKey="Sebastio G" first="Gianfranco" last="Sebastio">Gianfranco Sebastio</name></country><country name="Pays-Bas"><region name="Gueldre"><name sortKey="Kluijtmans, Leo A J" sort="Kluijtmans, Leo A J" uniqKey="Kluijtmans L" first="Leo A. J." last="Kluijtmans">Leo A. J. Kluijtmans</name></region><name sortKey="Blom, Henk" sort="Blom, Henk" uniqKey="Blom H" first="Henk" last="Blom">Henk Blom</name><name sortKey="Boers, Godfried H J" sort="Boers, Godfried H J" uniqKey="Boers G" first="Godfried H. J." last="Boers">Godfried H. J. Boers</name></country><country name="Australie"><noRegion><name sortKey="Gordon, Ross B" sort="Gordon, Ross B" uniqKey="Gordon R" first="Ross B." last="Gordon">Ross B. Gordon</name></noRegion></country><country name="France"><region name="Île-de-France"><name sortKey="Kamoun, Pierre" sort="Kamoun, Pierre" uniqKey="Kamoun P" first="Pierre" last="Kamoun">Pierre Kamoun</name></region></country><country name="Allemagne"><noRegion><name sortKey="Koch, Hans G" sort="Koch, Hans G" uniqKey="Koch H" first="Hans G." last="Koch">Hans G. Koch</name></noRegion></country><country name="Japon"><region name="Région de Tōhoku"><name sortKey="Ohura, Toshihiro" sort="Ohura, Toshihiro" uniqKey="Ohura T" first="Toshihiro" last="Ohura">Toshihiro Ohura</name></region></country><country name="Danemark"><noRegion><name sortKey="Gaustadnes, Mette" sort="Gaustadnes, Mette" uniqKey="Gaustadnes M" first="Mette" last="Gaustadnes">Mette Gaustadnes</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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