DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype
Resistance to thyrotropin (TSH) (RTSH; defined by elevated TSH and a normal or hypoplastic thyroid gland) can be caused by mutations in genes encoding the TSH receptor and PAX8 , and it has been linked to a locus on chromosome 15. In two nonconsanguineous families with nongoitrous euthyroid hyperthy...
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| Veröffentlicht in: | Thyroid (New York, N.Y.) N.Y.), 2017-01, Vol.27 (1), p.129-131 |
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| container_title | Thyroid (New York, N.Y.) |
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| creator | Srichomkwun, Panudda Takamatsu, Junta Nickerson, Deborah A. Bamshad, Michael J. Chong, Jessica X. Refetoff, Samuel |
| description | Resistance to thyrotropin (TSH) (RTSH; defined by elevated TSH and a normal or hypoplastic thyroid gland) can be caused by mutations in genes encoding the
TSH receptor
and
PAX8
, and it has been linked to a locus on chromosome 15. In two nonconsanguineous families with nongoitrous euthyroid hyperthyrotropinemia, typical of the RTSH phenotype, exome analysis identified five rare
DUOX2
gene variants (p.A649E, p.P1391A, p.R885L, p.G488R, and p.SF965-6SfsX29) found to be pathogenic. This form of nongoitrous dyshormonogenesis masquerades both clinically and biochemically as RTSH. Accordingly, mutations in
DUOX2
should be added to those of
SLC26A4
as causes of RTSH. |
| doi_str_mv | 10.1089/thy.2016.0469 |
| format | Article |
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TSH receptor
and
PAX8
, and it has been linked to a locus on chromosome 15. In two nonconsanguineous families with nongoitrous euthyroid hyperthyrotropinemia, typical of the RTSH phenotype, exome analysis identified five rare
DUOX2
gene variants (p.A649E, p.P1391A, p.R885L, p.G488R, and p.SF965-6SfsX29) found to be pathogenic. This form of nongoitrous dyshormonogenesis masquerades both clinically and biochemically as RTSH. Accordingly, mutations in
DUOX2
should be added to those of
SLC26A4
as causes of RTSH.</description><identifier>ISSN: 1050-7256</identifier><identifier>EISSN: 1557-9077</identifier><identifier>DOI: 10.1089/thy.2016.0469</identifier><identifier>PMID: 27821020</identifier><language>eng</language><publisher>United States: Mary Ann Liebert, Inc</publisher><subject>Brief Reports on Novel Mutations Associated with Inherited Thyroid Disorders ; Child, Preschool ; Congenital Hypothyroidism - blood ; Congenital Hypothyroidism - genetics ; Dual Oxidases - genetics ; Female ; Genotype ; Humans ; Male ; Mutation ; Pedigree ; Phenotype ; Thyroid Hormone Resistance Syndrome - blood ; Thyroid Hormone Resistance Syndrome - genetics ; Thyrotropin - blood</subject><ispartof>Thyroid (New York, N.Y.), 2017-01, Vol.27 (1), p.129-131</ispartof><rights>2017, Mary Ann Liebert, Inc.</rights><rights>Copyright 2017, Mary Ann Liebert, Inc. 2017</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c497t-45834475bd18ec7e0cc1142a7067cfaf7009bc531aecd760401a8596b739e4023</citedby><cites>FETCH-LOGICAL-c497t-45834475bd18ec7e0cc1142a7067cfaf7009bc531aecd760401a8596b739e4023</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,315,781,785,886,27929,27930</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/27821020$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Srichomkwun, Panudda</creatorcontrib><creatorcontrib>Takamatsu, Junta</creatorcontrib><creatorcontrib>Nickerson, Deborah A.</creatorcontrib><creatorcontrib>Bamshad, Michael J.</creatorcontrib><creatorcontrib>Chong, Jessica X.</creatorcontrib><creatorcontrib>Refetoff, Samuel</creatorcontrib><creatorcontrib>University of Washington Center for Mendelian Genomics</creatorcontrib><title>DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype</title><title>Thyroid (New York, N.Y.)</title><addtitle>Thyroid</addtitle><description>Resistance to thyrotropin (TSH) (RTSH; defined by elevated TSH and a normal or hypoplastic thyroid gland) can be caused by mutations in genes encoding the
TSH receptor
and
PAX8
, and it has been linked to a locus on chromosome 15. In two nonconsanguineous families with nongoitrous euthyroid hyperthyrotropinemia, typical of the RTSH phenotype, exome analysis identified five rare
DUOX2
gene variants (p.A649E, p.P1391A, p.R885L, p.G488R, and p.SF965-6SfsX29) found to be pathogenic. This form of nongoitrous dyshormonogenesis masquerades both clinically and biochemically as RTSH. Accordingly, mutations in
DUOX2
should be added to those of
SLC26A4
as causes of RTSH.</description><subject>Brief Reports on Novel Mutations Associated with Inherited Thyroid Disorders</subject><subject>Child, Preschool</subject><subject>Congenital Hypothyroidism - blood</subject><subject>Congenital Hypothyroidism - genetics</subject><subject>Dual Oxidases - genetics</subject><subject>Female</subject><subject>Genotype</subject><subject>Humans</subject><subject>Male</subject><subject>Mutation</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>Thyroid Hormone Resistance Syndrome - blood</subject><subject>Thyroid Hormone Resistance Syndrome - genetics</subject><subject>Thyrotropin - blood</subject><issn>1050-7256</issn><issn>1557-9077</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkMFLwzAUh4MoTqdHr9Kjl86XtGnaiyDqVFAmsoG3kGavW6RLZpIJ--_t2BQ9mcsLeR-_9_IRckZhQKGsLuN8PWBAiwHkRbVHjijnIq1AiP3uDhxSwXjRI8chvEOHlSI7JD0mSkaBwREZ3k5Gbyy5R4vJ8yqqaJxNnpU1DYZo7CxRIXnFYEJUVmMSXTKer72L3i2NTV7maF1cL_GEHDSqDXi6q30yGd6Nbx7Sp9H94831U6rzSsQ052WW54LXU1qiFghaU5ozJaAQulGNAKhqzTOqUE9FATlQVfKqqEVWYQ4s65Orbe5yVS9wqtFGr1q59Gah_Fo6ZeTfjjVzOXOfkjMoikp0ARe7AO8-Vt0f5cIEjW2rLLpVkLTMBCt51p0-Sbeo9i4Ej83PGApy41527uXGvdy47_jz37v90N-yOyDbAptnZW1rsEYf_4n9AnM2kVo</recordid><startdate>20170101</startdate><enddate>20170101</enddate><creator>Srichomkwun, Panudda</creator><creator>Takamatsu, Junta</creator><creator>Nickerson, Deborah A.</creator><creator>Bamshad, Michael J.</creator><creator>Chong, Jessica X.</creator><creator>Refetoff, Samuel</creator><general>Mary Ann Liebert, Inc</general><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><scope>5PM</scope></search><sort><creationdate>20170101</creationdate><title>DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype</title><author>Srichomkwun, Panudda ; Takamatsu, Junta ; Nickerson, Deborah A. ; Bamshad, Michael J. ; Chong, Jessica X. ; Refetoff, Samuel</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c497t-45834475bd18ec7e0cc1142a7067cfaf7009bc531aecd760401a8596b739e4023</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2017</creationdate><topic>Brief Reports on Novel Mutations Associated with Inherited Thyroid Disorders</topic><topic>Child, Preschool</topic><topic>Congenital Hypothyroidism - blood</topic><topic>Congenital Hypothyroidism - genetics</topic><topic>Dual Oxidases - genetics</topic><topic>Female</topic><topic>Genotype</topic><topic>Humans</topic><topic>Male</topic><topic>Mutation</topic><topic>Pedigree</topic><topic>Phenotype</topic><topic>Thyroid Hormone Resistance Syndrome - blood</topic><topic>Thyroid Hormone Resistance Syndrome - genetics</topic><topic>Thyrotropin - blood</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Srichomkwun, Panudda</creatorcontrib><creatorcontrib>Takamatsu, Junta</creatorcontrib><creatorcontrib>Nickerson, Deborah A.</creatorcontrib><creatorcontrib>Bamshad, Michael J.</creatorcontrib><creatorcontrib>Chong, Jessica X.</creatorcontrib><creatorcontrib>Refetoff, Samuel</creatorcontrib><creatorcontrib>University of Washington Center for Mendelian Genomics</creatorcontrib><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><collection>PubMed Central (Full Participant titles)</collection><jtitle>Thyroid (New York, N.Y.)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Srichomkwun, Panudda</au><au>Takamatsu, Junta</au><au>Nickerson, Deborah A.</au><au>Bamshad, Michael J.</au><au>Chong, Jessica X.</au><au>Refetoff, Samuel</au><aucorp>University of Washington Center for Mendelian Genomics</aucorp><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype</atitle><jtitle>Thyroid (New York, N.Y.)</jtitle><addtitle>Thyroid</addtitle><date>2017-01-01</date><risdate>2017</risdate><volume>27</volume><issue>1</issue><spage>129</spage><epage>131</epage><pages>129-131</pages><issn>1050-7256</issn><eissn>1557-9077</eissn><abstract>Resistance to thyrotropin (TSH) (RTSH; defined by elevated TSH and a normal or hypoplastic thyroid gland) can be caused by mutations in genes encoding the
TSH receptor
and
PAX8
, and it has been linked to a locus on chromosome 15. In two nonconsanguineous families with nongoitrous euthyroid hyperthyrotropinemia, typical of the RTSH phenotype, exome analysis identified five rare
DUOX2
gene variants (p.A649E, p.P1391A, p.R885L, p.G488R, and p.SF965-6SfsX29) found to be pathogenic. This form of nongoitrous dyshormonogenesis masquerades both clinically and biochemically as RTSH. Accordingly, mutations in
DUOX2
should be added to those of
SLC26A4
as causes of RTSH.</abstract><cop>United States</cop><pub>Mary Ann Liebert, Inc</pub><pmid>27821020</pmid><doi>10.1089/thy.2016.0469</doi><tpages>3</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1050-7256 |
| ispartof | Thyroid (New York, N.Y.), 2017-01, Vol.27 (1), p.129-131 |
| issn | 1050-7256 1557-9077 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5206697 |
| source | MEDLINE; Alma/SFX Local Collection |
| subjects | Brief Reports on Novel Mutations Associated with Inherited Thyroid Disorders Child, Preschool Congenital Hypothyroidism - blood Congenital Hypothyroidism - genetics Dual Oxidases - genetics Female Genotype Humans Male Mutation Pedigree Phenotype Thyroid Hormone Resistance Syndrome - blood Thyroid Hormone Resistance Syndrome - genetics Thyrotropin - blood |
| title | DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype |
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