DUOX2 Mutations Are Associated With Congenital Hypothyroidism With Ectopic Thyroid Gland
Abstract Context Thyroid dysgenesis (TD) is the leading cause of congenital hypothyroidism (CH). The etiology of TD remains unknown in ∼90% of cases, the most common form being thyroid ectopia (TE) (48% to 61%). Objective To search for candidate genes in hypothyroid children with TE. Design, Setting...
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creator | Kizys, Marina M L Louzada, Ruy A Mitne-Neto, Miguel Jara, Jessica R Furuzawa, Gilberto K de Carvalho, Denise P Dias-da-Silva, Magnus R Nesi-França, Suzana Dupuy, Corinne Maciel, Rui M B |
description | Abstract
Context
Thyroid dysgenesis (TD) is the leading cause of congenital hypothyroidism (CH). The etiology of TD remains unknown in ∼90% of cases, the most common form being thyroid ectopia (TE) (48% to 61%).
Objective
To search for candidate genes in hypothyroid children with TE.
Design, Setting, and Participants
We followed a cohort of 268 children with TD and performed whole-exome sequencing (WES) in three children with CH with TE (CHTE) and compared them with 18 thyroid-healthy controls. We then screened an additional 41 children with CHTE by Sanger sequencing and correlated the WES and Sanger molecular findings with in vitro functional analysis.
Main Outcome Measures
Genotyping, mutation prediction analysis, and in vitro functional analysis.
Results
We identified seven variants in the DUOX2 gene, namely G201E, L264CfsX57, P609S, M650T, E810X, M822V, and E1017G, and eight known variations. All children carrying DUOX2 variations had high thyroid-stimulating hormone levels at neonatal diagnosis. All mutations were localized in the N-terminal segment, and three of them led to effects on cell surface targeting and reactive oxygen species generation. The DUOX2 mutants also altered the interaction with the maturation factor DUOXA2 and the formation of a stable DUOX2/DUOXA2 complex at the cell surface, thereby impairing functional enzymatic activity. We observed no mutations in the classic genes related to TD or in the DUOX1 gene.
Conclusion
Our findings suggest that, in addition to thyroid hormonogenesis, the DUOX2 N-terminal domain may play a role in thyroid development.
Exome analysis unexpectedly revealed DUOX2 mutations in patients with ectopic thyroid, suggesting that DUOX2 could also be involved in thyroid ontogenesis. |
doi_str_mv | 10.1210/jc.2017-00832 |
format | Article |
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Context
Thyroid dysgenesis (TD) is the leading cause of congenital hypothyroidism (CH). The etiology of TD remains unknown in ∼90% of cases, the most common form being thyroid ectopia (TE) (48% to 61%).
Objective
To search for candidate genes in hypothyroid children with TE.
Design, Setting, and Participants
We followed a cohort of 268 children with TD and performed whole-exome sequencing (WES) in three children with CH with TE (CHTE) and compared them with 18 thyroid-healthy controls. We then screened an additional 41 children with CHTE by Sanger sequencing and correlated the WES and Sanger molecular findings with in vitro functional analysis.
Main Outcome Measures
Genotyping, mutation prediction analysis, and in vitro functional analysis.
Results
We identified seven variants in the DUOX2 gene, namely G201E, L264CfsX57, P609S, M650T, E810X, M822V, and E1017G, and eight known variations. All children carrying DUOX2 variations had high thyroid-stimulating hormone levels at neonatal diagnosis. All mutations were localized in the N-terminal segment, and three of them led to effects on cell surface targeting and reactive oxygen species generation. The DUOX2 mutants also altered the interaction with the maturation factor DUOXA2 and the formation of a stable DUOX2/DUOXA2 complex at the cell surface, thereby impairing functional enzymatic activity. We observed no mutations in the classic genes related to TD or in the DUOX1 gene.
Conclusion
Our findings suggest that, in addition to thyroid hormonogenesis, the DUOX2 N-terminal domain may play a role in thyroid development.
Exome analysis unexpectedly revealed DUOX2 mutations in patients with ectopic thyroid, suggesting that DUOX2 could also be involved in thyroid ontogenesis.</description><identifier>ISSN: 0021-972X</identifier><identifier>EISSN: 1945-7197</identifier><identifier>DOI: 10.1210/jc.2017-00832</identifier><identifier>PMID: 28666341</identifier><language>eng</language><publisher>Washington, DC: Endocrine Society</publisher><subject>Cell surface ; Children ; Cohort Studies ; Congenital diseases ; Congenital Hypothyroidism - complications ; Congenital Hypothyroidism - genetics ; DNA Mutational Analysis ; Dual Oxidases - chemistry ; Dual Oxidases - genetics ; Endocrinology and metabolism ; Enzymatic activity ; Etiology ; Female ; Functional analysis ; Genes ; Genetic Association Studies ; Genetic Predisposition to Disease ; Genotyping ; HEK293 Cells ; Human health and pathology ; Humans ; Hypothyroidism ; Infant, Newborn ; Life Sciences ; Male ; Mutants ; Mutation ; Neonates ; Protein Domains - genetics ; Reactive oxygen species ; Thyroid ; Thyroid Dysgenesis - complications ; Thyroid Dysgenesis - genetics ; Thyroid gland ; Thyroid Gland - embryology ; Thyroid-stimulating hormone</subject><ispartof>The journal of clinical endocrinology and metabolism, 2017-11, Vol.102 (11), p.4060-4071</ispartof><rights>Copyright © 2017 Endocrine Society 2017</rights><rights>Copyright © Oxford University Press 2015</rights><rights>Copyright © 2017 Endocrine Society</rights><rights>Distributed under a Creative Commons Attribution 4.0 International License</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4692-39e3746d1496993628e59daea1a51eb0ddeeb75ef87fecc5085d7cc97afe5a9e3</citedby><cites>FETCH-LOGICAL-c4692-39e3746d1496993628e59daea1a51eb0ddeeb75ef87fecc5085d7cc97afe5a9e3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.proquest.com/docview/2030623909?pq-origsite=primo$$EHTML$$P50$$Gproquest$$H</linktohtml><link.rule.ids>230,315,782,786,887,21395,21396,27931,27932,33537,33538,33751,33752,43666,43812,64392,64394,64396,72476,73130,73135,73136,73138</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/28666341$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://hal.science/hal-02399443$$DView record in HAL$$Hfree_for_read</backlink></links><search><creatorcontrib>Kizys, Marina M L</creatorcontrib><creatorcontrib>Louzada, Ruy A</creatorcontrib><creatorcontrib>Mitne-Neto, Miguel</creatorcontrib><creatorcontrib>Jara, Jessica R</creatorcontrib><creatorcontrib>Furuzawa, Gilberto K</creatorcontrib><creatorcontrib>de Carvalho, Denise P</creatorcontrib><creatorcontrib>Dias-da-Silva, Magnus R</creatorcontrib><creatorcontrib>Nesi-França, Suzana</creatorcontrib><creatorcontrib>Dupuy, Corinne</creatorcontrib><creatorcontrib>Maciel, Rui M B</creatorcontrib><title>DUOX2 Mutations Are Associated With Congenital Hypothyroidism With Ectopic Thyroid Gland</title><title>The journal of clinical endocrinology and metabolism</title><addtitle>J Clin Endocrinol Metab</addtitle><description>Abstract
Context
Thyroid dysgenesis (TD) is the leading cause of congenital hypothyroidism (CH). The etiology of TD remains unknown in ∼90% of cases, the most common form being thyroid ectopia (TE) (48% to 61%).
Objective
To search for candidate genes in hypothyroid children with TE.
Design, Setting, and Participants
We followed a cohort of 268 children with TD and performed whole-exome sequencing (WES) in three children with CH with TE (CHTE) and compared them with 18 thyroid-healthy controls. We then screened an additional 41 children with CHTE by Sanger sequencing and correlated the WES and Sanger molecular findings with in vitro functional analysis.
Main Outcome Measures
Genotyping, mutation prediction analysis, and in vitro functional analysis.
Results
We identified seven variants in the DUOX2 gene, namely G201E, L264CfsX57, P609S, M650T, E810X, M822V, and E1017G, and eight known variations. All children carrying DUOX2 variations had high thyroid-stimulating hormone levels at neonatal diagnosis. All mutations were localized in the N-terminal segment, and three of them led to effects on cell surface targeting and reactive oxygen species generation. The DUOX2 mutants also altered the interaction with the maturation factor DUOXA2 and the formation of a stable DUOX2/DUOXA2 complex at the cell surface, thereby impairing functional enzymatic activity. We observed no mutations in the classic genes related to TD or in the DUOX1 gene.
Conclusion
Our findings suggest that, in addition to thyroid hormonogenesis, the DUOX2 N-terminal domain may play a role in thyroid development.
Exome analysis unexpectedly revealed DUOX2 mutations in patients with ectopic thyroid, suggesting that DUOX2 could also be involved in thyroid ontogenesis.</description><subject>Cell surface</subject><subject>Children</subject><subject>Cohort Studies</subject><subject>Congenital diseases</subject><subject>Congenital Hypothyroidism - complications</subject><subject>Congenital Hypothyroidism - genetics</subject><subject>DNA Mutational Analysis</subject><subject>Dual Oxidases - chemistry</subject><subject>Dual Oxidases - genetics</subject><subject>Endocrinology and metabolism</subject><subject>Enzymatic activity</subject><subject>Etiology</subject><subject>Female</subject><subject>Functional analysis</subject><subject>Genes</subject><subject>Genetic Association Studies</subject><subject>Genetic Predisposition to Disease</subject><subject>Genotyping</subject><subject>HEK293 Cells</subject><subject>Human health and pathology</subject><subject>Humans</subject><subject>Hypothyroidism</subject><subject>Infant, Newborn</subject><subject>Life Sciences</subject><subject>Male</subject><subject>Mutants</subject><subject>Mutation</subject><subject>Neonates</subject><subject>Protein Domains - genetics</subject><subject>Reactive oxygen species</subject><subject>Thyroid</subject><subject>Thyroid Dysgenesis - complications</subject><subject>Thyroid Dysgenesis - genetics</subject><subject>Thyroid gland</subject><subject>Thyroid Gland - embryology</subject><subject>Thyroid-stimulating hormone</subject><issn>0021-972X</issn><issn>1945-7197</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNp1kT1v2zAQhomiReMkHbsWAro0gxJ-iRRHw0njAC6yJKg3gqZOFV1ZVEmqgf995cjJEKATgeNzz93hRegzwZeEEny1tZcUE5ljXDL6Ds2I4kUuiZLv0QxjSnIl6foEnca4xZhwXrCP6ISWQgjGyQytrx_v1zT7MSSTnO9iNg-QzWP01pkEVfbTpSZb-O4XdC6ZNlvue5-affCucnE3fd_Y5Htns4epnt22pqvO0YfatBE-Hd8z9Pj95mGxzFf3t3eL-Sq3XCiaMwVMclERroRSTNASClUZMMQUBDa4qgA2soC6lDVYW-CyqKS1SpoaCjM2n6GLyduYVvfB7UzYa2-cXs5X-lDDlCnFOftLRvbbxPbB_xkgJr1z0UI77gt-iJooUjDOBSlH9OsbdOuH0I2XaIoZFqMUq5HKJ8oGH2OA-nUDgvUhHr21-hCPfo5n5L8crcNmB9Ur_ZLHCJAJePJtghB_t8MTBN2AaVPzVpq_SI9X-aH_3_wj-g_0-aVB</recordid><startdate>201711</startdate><enddate>201711</enddate><creator>Kizys, Marina M L</creator><creator>Louzada, Ruy A</creator><creator>Mitne-Neto, Miguel</creator><creator>Jara, Jessica R</creator><creator>Furuzawa, Gilberto K</creator><creator>de Carvalho, Denise P</creator><creator>Dias-da-Silva, Magnus R</creator><creator>Nesi-França, Suzana</creator><creator>Dupuy, Corinne</creator><creator>Maciel, Rui M B</creator><general>Endocrine Society</general><general>Copyright Oxford University Press</general><general>Oxford University Press</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>3V.</scope><scope>7QP</scope><scope>7T5</scope><scope>7TM</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>H94</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope><scope>1XC</scope></search><sort><creationdate>201711</creationdate><title>DUOX2 Mutations Are Associated With Congenital Hypothyroidism With Ectopic Thyroid Gland</title><author>Kizys, Marina M L ; Louzada, Ruy A ; Mitne-Neto, Miguel ; Jara, Jessica R ; Furuzawa, Gilberto K ; de Carvalho, Denise P ; Dias-da-Silva, Magnus R ; Nesi-França, Suzana ; Dupuy, Corinne ; Maciel, Rui M B</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4692-39e3746d1496993628e59daea1a51eb0ddeeb75ef87fecc5085d7cc97afe5a9e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2017</creationdate><topic>Cell surface</topic><topic>Children</topic><topic>Cohort Studies</topic><topic>Congenital diseases</topic><topic>Congenital Hypothyroidism - complications</topic><topic>Congenital Hypothyroidism - genetics</topic><topic>DNA Mutational Analysis</topic><topic>Dual Oxidases - chemistry</topic><topic>Dual Oxidases - genetics</topic><topic>Endocrinology and metabolism</topic><topic>Enzymatic activity</topic><topic>Etiology</topic><topic>Female</topic><topic>Functional analysis</topic><topic>Genes</topic><topic>Genetic Association Studies</topic><topic>Genetic Predisposition to Disease</topic><topic>Genotyping</topic><topic>HEK293 Cells</topic><topic>Human health and pathology</topic><topic>Humans</topic><topic>Hypothyroidism</topic><topic>Infant, Newborn</topic><topic>Life Sciences</topic><topic>Male</topic><topic>Mutants</topic><topic>Mutation</topic><topic>Neonates</topic><topic>Protein Domains - genetics</topic><topic>Reactive oxygen species</topic><topic>Thyroid</topic><topic>Thyroid Dysgenesis - complications</topic><topic>Thyroid Dysgenesis - genetics</topic><topic>Thyroid gland</topic><topic>Thyroid Gland - embryology</topic><topic>Thyroid-stimulating hormone</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Kizys, Marina M L</creatorcontrib><creatorcontrib>Louzada, Ruy A</creatorcontrib><creatorcontrib>Mitne-Neto, Miguel</creatorcontrib><creatorcontrib>Jara, Jessica R</creatorcontrib><creatorcontrib>Furuzawa, Gilberto K</creatorcontrib><creatorcontrib>de Carvalho, Denise P</creatorcontrib><creatorcontrib>Dias-da-Silva, Magnus R</creatorcontrib><creatorcontrib>Nesi-França, Suzana</creatorcontrib><creatorcontrib>Dupuy, Corinne</creatorcontrib><creatorcontrib>Maciel, Rui M B</creatorcontrib><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>Calcium & Calcified Tissue Abstracts</collection><collection>Immunology Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</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</collection><collection>ProQuest One Community College</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical 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>MEDLINE - Academic</collection><collection>Hyper Article en Ligne (HAL)</collection><jtitle>The journal of clinical endocrinology and metabolism</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Kizys, Marina M L</au><au>Louzada, Ruy A</au><au>Mitne-Neto, Miguel</au><au>Jara, Jessica R</au><au>Furuzawa, Gilberto K</au><au>de Carvalho, Denise P</au><au>Dias-da-Silva, Magnus R</au><au>Nesi-França, Suzana</au><au>Dupuy, Corinne</au><au>Maciel, Rui M B</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>DUOX2 Mutations Are Associated With Congenital Hypothyroidism With Ectopic Thyroid Gland</atitle><jtitle>The journal of clinical endocrinology and metabolism</jtitle><addtitle>J Clin Endocrinol Metab</addtitle><date>2017-11</date><risdate>2017</risdate><volume>102</volume><issue>11</issue><spage>4060</spage><epage>4071</epage><pages>4060-4071</pages><issn>0021-972X</issn><eissn>1945-7197</eissn><abstract>Abstract
Context
Thyroid dysgenesis (TD) is the leading cause of congenital hypothyroidism (CH). The etiology of TD remains unknown in ∼90% of cases, the most common form being thyroid ectopia (TE) (48% to 61%).
Objective
To search for candidate genes in hypothyroid children with TE.
Design, Setting, and Participants
We followed a cohort of 268 children with TD and performed whole-exome sequencing (WES) in three children with CH with TE (CHTE) and compared them with 18 thyroid-healthy controls. We then screened an additional 41 children with CHTE by Sanger sequencing and correlated the WES and Sanger molecular findings with in vitro functional analysis.
Main Outcome Measures
Genotyping, mutation prediction analysis, and in vitro functional analysis.
Results
We identified seven variants in the DUOX2 gene, namely G201E, L264CfsX57, P609S, M650T, E810X, M822V, and E1017G, and eight known variations. All children carrying DUOX2 variations had high thyroid-stimulating hormone levels at neonatal diagnosis. All mutations were localized in the N-terminal segment, and three of them led to effects on cell surface targeting and reactive oxygen species generation. The DUOX2 mutants also altered the interaction with the maturation factor DUOXA2 and the formation of a stable DUOX2/DUOXA2 complex at the cell surface, thereby impairing functional enzymatic activity. We observed no mutations in the classic genes related to TD or in the DUOX1 gene.
Conclusion
Our findings suggest that, in addition to thyroid hormonogenesis, the DUOX2 N-terminal domain may play a role in thyroid development.
Exome analysis unexpectedly revealed DUOX2 mutations in patients with ectopic thyroid, suggesting that DUOX2 could also be involved in thyroid ontogenesis.</abstract><cop>Washington, DC</cop><pub>Endocrine Society</pub><pmid>28666341</pmid><doi>10.1210/jc.2017-00832</doi><tpages>12</tpages><oa>free_for_read</oa></addata></record> |
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source | ProQuest One Community College; Oxford University Press Journals All Titles (1996-Current); MEDLINE; ProQuest Central (Alumni Edition); EZB-FREE-00999 freely available EZB journals; ProQuest Central UK/Ireland; Alma/SFX Local Collection; Journals@Ovid Complete; ProQuest Central |
subjects | Cell surface Children Cohort Studies Congenital diseases Congenital Hypothyroidism - complications Congenital Hypothyroidism - genetics DNA Mutational Analysis Dual Oxidases - chemistry Dual Oxidases - genetics Endocrinology and metabolism Enzymatic activity Etiology Female Functional analysis Genes Genetic Association Studies Genetic Predisposition to Disease Genotyping HEK293 Cells Human health and pathology Humans Hypothyroidism Infant, Newborn Life Sciences Male Mutants Mutation Neonates Protein Domains - genetics Reactive oxygen species Thyroid Thyroid Dysgenesis - complications Thyroid Dysgenesis - genetics Thyroid gland Thyroid Gland - embryology Thyroid-stimulating hormone |
title | DUOX2 Mutations Are Associated With Congenital Hypothyroidism With Ectopic Thyroid Gland |
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