A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome
Opitz-Kaveggia syndrome (also known as FG syndrome) is an X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation. We report here that the original family for whom the condition is named and five other families have a recurrent mutation (2881C>T, l...
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| Veröffentlicht in: | Nature genetics 2007-04, Vol.39 (4), p.451-453 |
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| creator | Risheg, Hiba Graham, John M Clark, Robin D Rogers, R Curtis Opitz, John M Moeschler, John B Peiffer, Andreas P May, Melanie Joseph, Sumy M Jones, Julie R Stevenson, Roger E Schwartz, Charles E Friez, Michael J |
| description | Opitz-Kaveggia syndrome (also known as FG syndrome) is an X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation. We report here that the original family for whom the condition is named and five other families have a recurrent mutation (2881C>T, leading to R961W) in
MED12
(also called
TRAP230
or
HOPA
), a gene located at Xq13 that functions as a thyroid receptor–associated protein in the Mediator complex. |
| doi_str_mv | 10.1038/ng1992 |
| format | Article |
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MED12
(also called
TRAP230
or
HOPA
), a gene located at Xq13 that functions as a thyroid receptor–associated protein in the Mediator complex.</description><identifier>ISSN: 1061-4036</identifier><identifier>EISSN: 1546-1718</identifier><identifier>DOI: 10.1038/ng1992</identifier><identifier>PMID: 17334363</identifier><identifier>CODEN: NGENEC</identifier><language>eng</language><publisher>New York: Nature Publishing Group US</publisher><subject>Agriculture ; Amino Acid Substitution - genetics ; Animal Genetics and Genomics ; Arginine - genetics ; Biological and medical sciences ; Biomedical and Life Sciences ; Biomedicine ; brief-communication ; Cancer Research ; Complex syndromes ; Complications and side effects ; Diagnosis ; Family ; Female ; Fundamental and applied biological sciences. Psychology ; Gene Function ; Gene mutations ; Genes ; Genetic Diseases, X-Linked - genetics ; Genetic disorders ; Genetics of eukaryotes. Biological and molecular evolution ; Human Genetics ; Humans ; Intellectual Disability - genetics ; Male ; Mediator Complex ; Medical genetics ; Medical sciences ; Muscle Hypotonia - genetics ; Mutation ; Pedigree ; Proteins ; Receptors, Thyroid Hormone - genetics ; Risk factors ; Syndrome ; Thyroid ; Thyroid gland ; Tryptophan - genetics</subject><ispartof>Nature genetics, 2007-04, Vol.39 (4), p.451-453</ispartof><rights>Springer Nature America, Inc. 2007</rights><rights>2007 INIST-CNRS</rights><rights>COPYRIGHT 2007 Nature Publishing Group</rights><rights>Copyright Nature Publishing Group Apr 2007</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c630t-3d3129e6da8e4642f51cb4ac4e665104db63f3a4d75d034d54fed2f9472f1a303</citedby><cites>FETCH-LOGICAL-c630t-3d3129e6da8e4642f51cb4ac4e665104db63f3a4d75d034d54fed2f9472f1a303</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1038/ng1992$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1038/ng1992$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27903,27904,41467,42536,51297</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=18673202$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/17334363$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Risheg, Hiba</creatorcontrib><creatorcontrib>Graham, John M</creatorcontrib><creatorcontrib>Clark, Robin D</creatorcontrib><creatorcontrib>Rogers, R Curtis</creatorcontrib><creatorcontrib>Opitz, John M</creatorcontrib><creatorcontrib>Moeschler, John B</creatorcontrib><creatorcontrib>Peiffer, Andreas P</creatorcontrib><creatorcontrib>May, Melanie</creatorcontrib><creatorcontrib>Joseph, Sumy M</creatorcontrib><creatorcontrib>Jones, Julie R</creatorcontrib><creatorcontrib>Stevenson, Roger E</creatorcontrib><creatorcontrib>Schwartz, Charles E</creatorcontrib><creatorcontrib>Friez, Michael J</creatorcontrib><title>A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome</title><title>Nature genetics</title><addtitle>Nat Genet</addtitle><addtitle>Nat Genet</addtitle><description>Opitz-Kaveggia syndrome (also known as FG syndrome) is an X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation. We report here that the original family for whom the condition is named and five other families have a recurrent mutation (2881C>T, leading to R961W) in
MED12
(also called
TRAP230
or
HOPA
), a gene located at Xq13 that functions as a thyroid receptor–associated protein in the Mediator complex.</description><subject>Agriculture</subject><subject>Amino Acid Substitution - genetics</subject><subject>Animal Genetics and Genomics</subject><subject>Arginine - genetics</subject><subject>Biological and medical sciences</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>brief-communication</subject><subject>Cancer Research</subject><subject>Complex syndromes</subject><subject>Complications and side effects</subject><subject>Diagnosis</subject><subject>Family</subject><subject>Female</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Gene Function</subject><subject>Gene mutations</subject><subject>Genes</subject><subject>Genetic Diseases, X-Linked - genetics</subject><subject>Genetic disorders</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Intellectual Disability - genetics</subject><subject>Male</subject><subject>Mediator Complex</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Muscle Hypotonia - genetics</subject><subject>Mutation</subject><subject>Pedigree</subject><subject>Proteins</subject><subject>Receptors, Thyroid Hormone - genetics</subject><subject>Risk factors</subject><subject>Syndrome</subject><subject>Thyroid</subject><subject>Thyroid gland</subject><subject>Tryptophan - genetics</subject><issn>1061-4036</issn><issn>1546-1718</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2007</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>8G5</sourceid><sourceid>BENPR</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNqN0u1r1DAYAPAiiptT_wQpioofOvPkre3HY5s63DiYbx9DLnlaMtr0lrSy-deb4wrHDVHJh4Tkl4TnJcueAzkGwqr3voW6pg-yQxBcFlBC9TCtiYSCEyYPsicxXhMCnJPqcXYAJWOcSXaYXS7ygGYKAf2Y99OoRzf43Pn88uwUaN6hts63-TjkV7WEH7nRU8SYL9du_FV81j-xbZ3O4523Yejxafao0V3EZ_N8lH37cPb15FNxsfx4frK4KIxkZCyYZUBrlFZXyCWnjQCz4tpwlFIA4XYlWcM0t6WwhHEreIOWNjUvaQOaEXaUvd2-uw7DzYRxVL2LBrtOexymqCrJa0GAiCTf_FWWhEFFUzr-BaGWRJSw-fvlPXg9TMGncBWlVApZSkjo1Ra1ukPlfDOMQZvNi2oBFWM1E5ImdfwHlYbF3pnBY-PS_t6Fd3sXkhnxdmxTUaI6_3L1_3b5fd_OwZswxBiwUevgeh3uFBC16S-17a8EX8zBT6se7Y7NDZXA6xnoaHTXBO2NiztXyZJRQncVjOnItxh2Wbz35W9xvN01</recordid><startdate>20070401</startdate><enddate>20070401</enddate><creator>Risheg, Hiba</creator><creator>Graham, John M</creator><creator>Clark, Robin D</creator><creator>Rogers, R Curtis</creator><creator>Opitz, John M</creator><creator>Moeschler, John B</creator><creator>Peiffer, Andreas P</creator><creator>May, Melanie</creator><creator>Joseph, Sumy M</creator><creator>Jones, Julie R</creator><creator>Stevenson, Roger E</creator><creator>Schwartz, Charles E</creator><creator>Friez, Michael J</creator><general>Nature Publishing Group US</general><general>Nature Publishing Group</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>IOV</scope><scope>ISR</scope><scope>3V.</scope><scope>7QL</scope><scope>7QP</scope><scope>7QR</scope><scope>7SS</scope><scope>7T7</scope><scope>7TK</scope><scope>7TM</scope><scope>7U9</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>8G5</scope><scope>ABUWG</scope><scope>AEUYN</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>C1K</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M2O</scope><scope>M7N</scope><scope>M7P</scope><scope>MBDVC</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>Q9U</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20070401</creationdate><title>A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome</title><author>Risheg, Hiba ; Graham, John M ; Clark, Robin D ; Rogers, R Curtis ; Opitz, John M ; Moeschler, John B ; Peiffer, Andreas P ; May, Melanie ; Joseph, Sumy M ; Jones, Julie R ; Stevenson, Roger E ; Schwartz, Charles E ; Friez, Michael J</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c630t-3d3129e6da8e4642f51cb4ac4e665104db63f3a4d75d034d54fed2f9472f1a303</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2007</creationdate><topic>Agriculture</topic><topic>Amino Acid Substitution - genetics</topic><topic>Animal Genetics and Genomics</topic><topic>Arginine - genetics</topic><topic>Biological and medical sciences</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>brief-communication</topic><topic>Cancer Research</topic><topic>Complex syndromes</topic><topic>Complications and side effects</topic><topic>Diagnosis</topic><topic>Family</topic><topic>Female</topic><topic>Fundamental and applied biological sciences. 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Academic</collection><jtitle>Nature genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Risheg, Hiba</au><au>Graham, John M</au><au>Clark, Robin D</au><au>Rogers, R Curtis</au><au>Opitz, John M</au><au>Moeschler, John B</au><au>Peiffer, Andreas P</au><au>May, Melanie</au><au>Joseph, Sumy M</au><au>Jones, Julie R</au><au>Stevenson, Roger E</au><au>Schwartz, Charles E</au><au>Friez, Michael J</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome</atitle><jtitle>Nature genetics</jtitle><stitle>Nat Genet</stitle><addtitle>Nat Genet</addtitle><date>2007-04-01</date><risdate>2007</risdate><volume>39</volume><issue>4</issue><spage>451</spage><epage>453</epage><pages>451-453</pages><issn>1061-4036</issn><eissn>1546-1718</eissn><coden>NGENEC</coden><abstract>Opitz-Kaveggia syndrome (also known as FG syndrome) is an X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation. We report here that the original family for whom the condition is named and five other families have a recurrent mutation (2881C>T, leading to R961W) in
MED12
(also called
TRAP230
or
HOPA
), a gene located at Xq13 that functions as a thyroid receptor–associated protein in the Mediator complex.</abstract><cop>New York</cop><pub>Nature Publishing Group US</pub><pmid>17334363</pmid><doi>10.1038/ng1992</doi><tpages>3</tpages></addata></record> |
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| ispartof | Nature genetics, 2007-04, Vol.39 (4), p.451-453 |
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| language | eng |
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| source | MEDLINE; Springer Nature - Complete Springer Journals; Nature Journals Online |
| subjects | Agriculture Amino Acid Substitution - genetics Animal Genetics and Genomics Arginine - genetics Biological and medical sciences Biomedical and Life Sciences Biomedicine brief-communication Cancer Research Complex syndromes Complications and side effects Diagnosis Family Female Fundamental and applied biological sciences. Psychology Gene Function Gene mutations Genes Genetic Diseases, X-Linked - genetics Genetic disorders Genetics of eukaryotes. Biological and molecular evolution Human Genetics Humans Intellectual Disability - genetics Male Mediator Complex Medical genetics Medical sciences Muscle Hypotonia - genetics Mutation Pedigree Proteins Receptors, Thyroid Hormone - genetics Risk factors Syndrome Thyroid Thyroid gland Tryptophan - genetics |
| title | A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome |
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