Phenotypic variability in patients with generalised resistance to thyroid hormone
Genetic linkage of generalised resistance to thyroid hormone (GRTH) to the human thyroid receptor beta 1 gene has been identified. To date 38 different mutations in several kindreds have been documented. We report on a family with GRTH displaying an adenine for guanine substitution at nucleotide 123...
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| Veröffentlicht in: | Journal of medical genetics 1995-05, Vol.32 (5), p.393-395 |
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| container_title | Journal of medical genetics |
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| creator | Pohlenz, J Wirth, S Winterpacht, A Wemme, H Zabel, B Schönberger, W |
| description | Genetic linkage of generalised resistance to thyroid hormone (GRTH) to the human thyroid receptor beta 1 gene has been identified. To date 38 different mutations in several kindreds have been documented. We report on a family with GRTH displaying an adenine for guanine substitution at nucleotide 1234 resulting in a threonine for alanine substitution at codon 317 of exon 9. This mutation has been described for different phenotypes, suggesting that the heterogeneity in GRTH may be the result of multiple genetic factors. |
| doi_str_mv | 10.1136/jmg.32.5.393 |
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To date 38 different mutations in several kindreds have been documented. We report on a family with GRTH displaying an adenine for guanine substitution at nucleotide 1234 resulting in a threonine for alanine substitution at codon 317 of exon 9. This mutation has been described for different phenotypes, suggesting that the heterogeneity in GRTH may be the result of multiple genetic factors.</description><identifier>ISSN: 0022-2593</identifier><identifier>ISSN: 1468-6244</identifier><identifier>EISSN: 1468-6244</identifier><identifier>DOI: 10.1136/jmg.32.5.393</identifier><identifier>PMID: 7616549</identifier><identifier>CODEN: JMDGAE</identifier><language>eng</language><publisher>London: BMJ Publishing Group Ltd</publisher><subject>Adult ; Amino Acid Sequence ; Base Sequence ; Biological and medical sciences ; c-erbA gene ; case reports ; Child ; Child, Preschool ; Endocrinopathies ; Female ; Genetic Heterogeneity ; Genetic Linkage - genetics ; goiter ; Humans ; linkage analysis ; Male ; man ; Medical sciences ; Molecular Sequence Data ; mutation ; Non tumoral diseases. Target tissue resistance. Benign neoplasms ; Pedigree ; Phenotype ; Point Mutation - genetics ; Receptors, Thyroid Hormone - chemistry ; Receptors, Thyroid Hormone - genetics ; Thyroid Function Tests ; thyroid hormone ; Thyroid Hormone Resistance Syndrome - genetics ; Thyroid Hormones - blood ; Thyroid. Thyroid axis (diseases)</subject><ispartof>Journal of medical genetics, 1995-05, Vol.32 (5), p.393-395</ispartof><rights>1995 INIST-CNRS</rights><rights>Copyright BMJ Publishing Group LTD May 1995</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b537t-4b14482bb9dc8af3e0acad8744ce7e3d7d0d65f774a83c6412cebefdb3f5d17c3</citedby><cites>FETCH-LOGICAL-b537t-4b14482bb9dc8af3e0acad8744ce7e3d7d0d65f774a83c6412cebefdb3f5d17c3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1050437/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1050437/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,727,780,784,885,27924,27925,53791,53793</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=3536376$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/7616549$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Pohlenz, J</creatorcontrib><creatorcontrib>Wirth, S</creatorcontrib><creatorcontrib>Winterpacht, A</creatorcontrib><creatorcontrib>Wemme, H</creatorcontrib><creatorcontrib>Zabel, B</creatorcontrib><creatorcontrib>Schönberger, W</creatorcontrib><title>Phenotypic variability in patients with generalised resistance to thyroid hormone</title><title>Journal of medical genetics</title><addtitle>J Med Genet</addtitle><description>Genetic linkage of generalised resistance to thyroid hormone (GRTH) to the human thyroid receptor beta 1 gene has been identified. To date 38 different mutations in several kindreds have been documented. We report on a family with GRTH displaying an adenine for guanine substitution at nucleotide 1234 resulting in a threonine for alanine substitution at codon 317 of exon 9. This mutation has been described for different phenotypes, suggesting that the heterogeneity in GRTH may be the result of multiple genetic factors.</description><subject>Adult</subject><subject>Amino Acid Sequence</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>c-erbA gene</subject><subject>case reports</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Endocrinopathies</subject><subject>Female</subject><subject>Genetic Heterogeneity</subject><subject>Genetic Linkage - genetics</subject><subject>goiter</subject><subject>Humans</subject><subject>linkage analysis</subject><subject>Male</subject><subject>man</subject><subject>Medical sciences</subject><subject>Molecular Sequence Data</subject><subject>mutation</subject><subject>Non tumoral diseases. Target tissue resistance. Benign neoplasms</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>Point Mutation - genetics</subject><subject>Receptors, Thyroid Hormone - chemistry</subject><subject>Receptors, Thyroid Hormone - genetics</subject><subject>Thyroid Function Tests</subject><subject>thyroid hormone</subject><subject>Thyroid Hormone Resistance Syndrome - genetics</subject><subject>Thyroid Hormones - blood</subject><subject>Thyroid. Thyroid axis (diseases)</subject><issn>0022-2593</issn><issn>1468-6244</issn><issn>1468-6244</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1995</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNqFkUuP0zAURi0EGjoDO7ZIkUCwIcXO9SPZjIQ6vKTykoCt5Tg3rUsSF9sd6L_Ho1YVsICVF9_R9XfvIeQBo3PGQD7fjKs5VHMxhwZukRnjsi5lxfltMqO0qspKNHCXnMe4oZSBYvKMnCnJpODNjHz6uMbJp_3W2eLaBGdaN7i0L9xUbE1yOKVY_HBpXaxwwmAGF7ErAkYXk5ksFskXab0P3nXF2ofRT3iP3OnNEPH-8b0gX169_Lx4Uy4_vH67eLEsWwEqlbxlnNdV2zadrU0PSI01Xa04t6gQOtXRTopeKW5qsJKzymKLfddCLzqmLFyQy8Pc7a4dsbO5au6nt8GNJuy1N07_mUxurVf-WjMqKAeVBzw5Dgj--w5j0qOLFofBTOh3UeevKVdM_BdkspYNY3UGH_0FbvwuTPkKmilFRc2pqjL17EDZ4GMM2J86M6pvjOpsVEOlhc5GM_7w9z1P8FFhzh8fcxOtGfqQvbh4wkCABCUzVh6wbA5_nmITvmmpQAn9_utCvxMC-BKu9M3STw98O27-XfAX5PnG_Q</recordid><startdate>19950501</startdate><enddate>19950501</enddate><creator>Pohlenz, J</creator><creator>Wirth, S</creator><creator>Winterpacht, A</creator><creator>Wemme, H</creator><creator>Zabel, B</creator><creator>Schönberger, W</creator><general>BMJ Publishing Group Ltd</general><general>BMJ</general><general>BMJ Publishing Group LTD</general><scope>BSCLL</scope><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>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>88I</scope><scope>8AF</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>BTHHO</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M2P</scope><scope>M7P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>Q9U</scope><scope>7T3</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>19950501</creationdate><title>Phenotypic variability in patients with generalised resistance to thyroid hormone</title><author>Pohlenz, J ; Wirth, S ; Winterpacht, A ; Wemme, H ; Zabel, B ; Schönberger, W</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b537t-4b14482bb9dc8af3e0acad8744ce7e3d7d0d65f774a83c6412cebefdb3f5d17c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1995</creationdate><topic>Adult</topic><topic>Amino Acid Sequence</topic><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>c-erbA gene</topic><topic>case reports</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Endocrinopathies</topic><topic>Female</topic><topic>Genetic Heterogeneity</topic><topic>Genetic Linkage - genetics</topic><topic>goiter</topic><topic>Humans</topic><topic>linkage analysis</topic><topic>Male</topic><topic>man</topic><topic>Medical sciences</topic><topic>Molecular Sequence Data</topic><topic>mutation</topic><topic>Non tumoral diseases. Target tissue resistance. Benign neoplasms</topic><topic>Pedigree</topic><topic>Phenotype</topic><topic>Point Mutation - genetics</topic><topic>Receptors, Thyroid Hormone - chemistry</topic><topic>Receptors, Thyroid Hormone - genetics</topic><topic>Thyroid Function Tests</topic><topic>thyroid hormone</topic><topic>Thyroid Hormone Resistance Syndrome - genetics</topic><topic>Thyroid Hormones - blood</topic><topic>Thyroid. Thyroid axis (diseases)</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Pohlenz, J</creatorcontrib><creatorcontrib>Wirth, S</creatorcontrib><creatorcontrib>Winterpacht, A</creatorcontrib><creatorcontrib>Wemme, H</creatorcontrib><creatorcontrib>Zabel, B</creatorcontrib><creatorcontrib>Schönberger, W</creatorcontrib><collection>Istex</collection><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>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Science Database (Alumni Edition)</collection><collection>STEM Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>BMJ Journals</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Science Database</collection><collection>Biological Science Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest Central Basic</collection><collection>Human Genome Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Pohlenz, J</au><au>Wirth, S</au><au>Winterpacht, A</au><au>Wemme, H</au><au>Zabel, B</au><au>Schönberger, W</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Phenotypic variability in patients with generalised resistance to thyroid hormone</atitle><jtitle>Journal of medical genetics</jtitle><addtitle>J Med Genet</addtitle><date>1995-05-01</date><risdate>1995</risdate><volume>32</volume><issue>5</issue><spage>393</spage><epage>395</epage><pages>393-395</pages><issn>0022-2593</issn><issn>1468-6244</issn><eissn>1468-6244</eissn><coden>JMDGAE</coden><abstract>Genetic linkage of generalised resistance to thyroid hormone (GRTH) to the human thyroid receptor beta 1 gene has been identified. To date 38 different mutations in several kindreds have been documented. We report on a family with GRTH displaying an adenine for guanine substitution at nucleotide 1234 resulting in a threonine for alanine substitution at codon 317 of exon 9. This mutation has been described for different phenotypes, suggesting that the heterogeneity in GRTH may be the result of multiple genetic factors.</abstract><cop>London</cop><pub>BMJ Publishing Group Ltd</pub><pmid>7616549</pmid><doi>10.1136/jmg.32.5.393</doi><tpages>3</tpages><oa>free_for_read</oa></addata></record> |
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| source | MEDLINE; EZB-FREE-00999 freely available EZB journals; PubMed Central; Alma/SFX Local Collection |
| subjects | Adult Amino Acid Sequence Base Sequence Biological and medical sciences c-erbA gene case reports Child Child, Preschool Endocrinopathies Female Genetic Heterogeneity Genetic Linkage - genetics goiter Humans linkage analysis Male man Medical sciences Molecular Sequence Data mutation Non tumoral diseases. Target tissue resistance. Benign neoplasms Pedigree Phenotype Point Mutation - genetics Receptors, Thyroid Hormone - chemistry Receptors, Thyroid Hormone - genetics Thyroid Function Tests thyroid hormone Thyroid Hormone Resistance Syndrome - genetics Thyroid Hormones - blood Thyroid. Thyroid axis (diseases) |
| title | Phenotypic variability in patients with generalised resistance to thyroid hormone |
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