Lethal Respiratory Failure and Mild Primary Hypothyroidism in a Term Girl with a de Novo Heterozygous Mutation in the TITF1/NKX2.1 Gene
Context: Thyroid transcription factor 1 (TITF1/NKX2.1) is expressed in the thyroid, lung, ventral forebrain, and pituitary. In the lung, TITF1/NKX2.1 activates the expression of genes critical for lung development and function. Titf/Nkx2.1−/− mice have pituitary and thyroid aplasia but also impairme...
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| creator | Maquet, Emilie Costagliola, Sabine Parma, Jasmine Christophe-Hobertus, Christiane Oligny, Luc L. Fournet, Jean-Christophe Robitaille, Yves Vuissoz, Jean-Marc Payot, Antoine Laberge, Sophie Vassart, Gilbert Van Vliet, Guy Deladoëy, Johnny |
| description | Context: Thyroid transcription factor 1 (TITF1/NKX2.1) is expressed in the thyroid, lung, ventral forebrain, and pituitary. In the lung, TITF1/NKX2.1 activates the expression of genes critical for lung development and function. Titf/Nkx2.1−/− mice have pituitary and thyroid aplasia but also impairment of pulmonary branching. Humans with heterozygous TITF1/NKX2.1 mutations present with various combinations of primary hypothyroidism, respiratory distress, and neurological disorders.
Objective: The objective of the study was to report clinical and molecular studies of the first patient with lethal neonatal respiratory distress from a novel heterozygous TITF1/NKX2.1 mutation.
Participant: This girl, the first child of healthy nonconsanguineous French-Canadian parents, was born at 41 wk. Birth weight was 3460 g and Apgar scores were normal. Soon after birth, she developed acute respiratory failure with pulmonary hypertension. At neonatal screening on the second day of life, TSH was 31 mU/liter (N |
| doi_str_mv | 10.1210/jc.2008-1402 |
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| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_66798775</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>66798775</sourcerecordid><originalsourceid>FETCH-LOGICAL-c363t-71f84a4d3087aa567b0b9939695e0f7b5eb78202c76a4965fb5d572120116ff3</originalsourceid><addsrcrecordid>eNptkMGO0zAQhi0EYsvCjTPyBU6kaztxHB_RirYrugtCOezNcpwJdZXYwXZA5QV4bVI1ggsnS-Nv_pn5EHpNyZoySm6OZs0IqTJaEPYEragseCaoFE_RihBGMynY4xV6EeOREFoUPH-OrmgluShksUK_95AOusdfIY426OTDCW-07acAWLsW39u-xV-CHfT8sTuNPh1OwdvWxgFbhzWuIQx4a0OPf9p0mAst4Af_w-MdJAj-1-mbnyK-n5JO1rtzTzoAru_qDb15-PTI1hRvwcFL9KzTfYRXy3uN6s3H-naX7T9v724_7DOTl3maD-uqQhdtTiqhNS9FQxopc1lKDqQTDYdGVIwwI0pdyJJ3DW-5YJQRSsuuy6_Ru0vsGPz3CWJSg40G-l47mPdUZSlkJQSfwfcX0AQfY4BOjRcJihJ19q6ORp29q7P3GX-z5E7NAO0_eBE9A28XQEej-y5oZ2z8y82BbAnKLxy41ptgHYwBYlRHPwU3i_n_-D_4nJrO</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>66798775</pqid></control><display><type>article</type><title>Lethal Respiratory Failure and Mild Primary Hypothyroidism in a Term Girl with a de Novo Heterozygous Mutation in the TITF1/NKX2.1 Gene</title><source>MEDLINE</source><source>Oxford University Press Journals All Titles (1996-Current)</source><source>EZB-FREE-00999 freely available EZB journals</source><source>Alma/SFX Local Collection</source><creator>Maquet, Emilie ; Costagliola, Sabine ; Parma, Jasmine ; Christophe-Hobertus, Christiane ; Oligny, Luc L. ; Fournet, Jean-Christophe ; Robitaille, Yves ; Vuissoz, Jean-Marc ; Payot, Antoine ; Laberge, Sophie ; Vassart, Gilbert ; Van Vliet, Guy ; Deladoëy, Johnny</creator><creatorcontrib>Maquet, Emilie ; Costagliola, Sabine ; Parma, Jasmine ; Christophe-Hobertus, Christiane ; Oligny, Luc L. ; Fournet, Jean-Christophe ; Robitaille, Yves ; Vuissoz, Jean-Marc ; Payot, Antoine ; Laberge, Sophie ; Vassart, Gilbert ; Van Vliet, Guy ; Deladoëy, Johnny</creatorcontrib><description>Context: Thyroid transcription factor 1 (TITF1/NKX2.1) is expressed in the thyroid, lung, ventral forebrain, and pituitary. In the lung, TITF1/NKX2.1 activates the expression of genes critical for lung development and function. Titf/Nkx2.1−/− mice have pituitary and thyroid aplasia but also impairment of pulmonary branching. Humans with heterozygous TITF1/NKX2.1 mutations present with various combinations of primary hypothyroidism, respiratory distress, and neurological disorders.
Objective: The objective of the study was to report clinical and molecular studies of the first patient with lethal neonatal respiratory distress from a novel heterozygous TITF1/NKX2.1 mutation.
Participant: This girl, the first child of healthy nonconsanguineous French-Canadian parents, was born at 41 wk. Birth weight was 3460 g and Apgar scores were normal. Soon after birth, she developed acute respiratory failure with pulmonary hypertension. At neonatal screening on the second day of life, TSH was 31 mU/liter (N <15) and total T4 245 nmol/liter (N = 120–350). Despite mechanical ventilation, thyroxine, surfactant, and pulmonary vasodilators, the patient died on the 40th day.
Results: Histopathology revealed pulmonary tissue with low alveolar counts. The thyroid was normal. Sequencing of the patient’s lymphocyte DNA revealed a novel heterozygous TITF1/NKX2.1 mutation (I207F). This mutation was not found in either parent. In vitro, the mutant TITF-1 had reduced DNA binding and transactivation capacity.
Conclusion: This is the first reported case of a heterozygous TITF1/NKX2.1 mutation leading to neonatal death from respiratory failure. The association of severe unexplained respiratory distress in a term neonate with mild primary hypothyroidism is the clue that led to the diagnosis.
A heterozygous mutation for thyroid transcription factor 1 (TITF1/NKX2.1) accounts for elevated thyrotropin levels associated with unexplained lethal respiratory failure in a term neonate.</description><identifier>ISSN: 0021-972X</identifier><identifier>EISSN: 1945-7197</identifier><identifier>DOI: 10.1210/jc.2008-1402</identifier><identifier>PMID: 18957494</identifier><identifier>CODEN: JCEMAZ</identifier><language>eng</language><publisher>Bethesda, MD: Endocrine Society</publisher><subject>Amino Acid Sequence ; Animals ; Biological and medical sciences ; Cercopithecus aethiops ; COS Cells ; DNA - metabolism ; Endocrinopathies ; Feeding. Feeding behavior ; Female ; Fundamental and applied biological sciences. Psychology ; Heterozygote ; Humans ; Hypothyroidism - genetics ; Immunohistochemistry ; Infant, Newborn ; Medical sciences ; Molecular Sequence Data ; Mutation ; Non tumoral diseases. Target tissue resistance. Benign neoplasms ; Nuclear Proteins - chemistry ; Nuclear Proteins - genetics ; Respiratory Insufficiency - genetics ; Sequence Analysis, DNA ; Thyroid Nuclear Factor 1 ; Thyroid. Thyroid axis (diseases) ; Transcription Factors - chemistry ; Transcription Factors - genetics ; Transcriptional Activation ; Vertebrates: anatomy and physiology, studies on body, several organs or systems ; Vertebrates: endocrinology</subject><ispartof>The journal of clinical endocrinology and metabolism, 2009-01, Vol.94 (1), p.197-203</ispartof><rights>2009 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c363t-71f84a4d3087aa567b0b9939695e0f7b5eb78202c76a4965fb5d572120116ff3</citedby><cites>FETCH-LOGICAL-c363t-71f84a4d3087aa567b0b9939695e0f7b5eb78202c76a4965fb5d572120116ff3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,4024,27923,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=21021402$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/18957494$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Maquet, Emilie</creatorcontrib><creatorcontrib>Costagliola, Sabine</creatorcontrib><creatorcontrib>Parma, Jasmine</creatorcontrib><creatorcontrib>Christophe-Hobertus, Christiane</creatorcontrib><creatorcontrib>Oligny, Luc L.</creatorcontrib><creatorcontrib>Fournet, Jean-Christophe</creatorcontrib><creatorcontrib>Robitaille, Yves</creatorcontrib><creatorcontrib>Vuissoz, Jean-Marc</creatorcontrib><creatorcontrib>Payot, Antoine</creatorcontrib><creatorcontrib>Laberge, Sophie</creatorcontrib><creatorcontrib>Vassart, Gilbert</creatorcontrib><creatorcontrib>Van Vliet, Guy</creatorcontrib><creatorcontrib>Deladoëy, Johnny</creatorcontrib><title>Lethal Respiratory Failure and Mild Primary Hypothyroidism in a Term Girl with a de Novo Heterozygous Mutation in the TITF1/NKX2.1 Gene</title><title>The journal of clinical endocrinology and metabolism</title><addtitle>J Clin Endocrinol Metab</addtitle><description>Context: Thyroid transcription factor 1 (TITF1/NKX2.1) is expressed in the thyroid, lung, ventral forebrain, and pituitary. In the lung, TITF1/NKX2.1 activates the expression of genes critical for lung development and function. Titf/Nkx2.1−/− mice have pituitary and thyroid aplasia but also impairment of pulmonary branching. Humans with heterozygous TITF1/NKX2.1 mutations present with various combinations of primary hypothyroidism, respiratory distress, and neurological disorders.
Objective: The objective of the study was to report clinical and molecular studies of the first patient with lethal neonatal respiratory distress from a novel heterozygous TITF1/NKX2.1 mutation.
Participant: This girl, the first child of healthy nonconsanguineous French-Canadian parents, was born at 41 wk. Birth weight was 3460 g and Apgar scores were normal. Soon after birth, she developed acute respiratory failure with pulmonary hypertension. At neonatal screening on the second day of life, TSH was 31 mU/liter (N <15) and total T4 245 nmol/liter (N = 120–350). Despite mechanical ventilation, thyroxine, surfactant, and pulmonary vasodilators, the patient died on the 40th day.
Results: Histopathology revealed pulmonary tissue with low alveolar counts. The thyroid was normal. Sequencing of the patient’s lymphocyte DNA revealed a novel heterozygous TITF1/NKX2.1 mutation (I207F). This mutation was not found in either parent. In vitro, the mutant TITF-1 had reduced DNA binding and transactivation capacity.
Conclusion: This is the first reported case of a heterozygous TITF1/NKX2.1 mutation leading to neonatal death from respiratory failure. The association of severe unexplained respiratory distress in a term neonate with mild primary hypothyroidism is the clue that led to the diagnosis.
A heterozygous mutation for thyroid transcription factor 1 (TITF1/NKX2.1) accounts for elevated thyrotropin levels associated with unexplained lethal respiratory failure in a term neonate.</description><subject>Amino Acid Sequence</subject><subject>Animals</subject><subject>Biological and medical sciences</subject><subject>Cercopithecus aethiops</subject><subject>COS Cells</subject><subject>DNA - metabolism</subject><subject>Endocrinopathies</subject><subject>Feeding. Feeding behavior</subject><subject>Female</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Heterozygote</subject><subject>Humans</subject><subject>Hypothyroidism - genetics</subject><subject>Immunohistochemistry</subject><subject>Infant, Newborn</subject><subject>Medical sciences</subject><subject>Molecular Sequence Data</subject><subject>Mutation</subject><subject>Non tumoral diseases. Target tissue resistance. Benign neoplasms</subject><subject>Nuclear Proteins - chemistry</subject><subject>Nuclear Proteins - genetics</subject><subject>Respiratory Insufficiency - genetics</subject><subject>Sequence Analysis, DNA</subject><subject>Thyroid Nuclear Factor 1</subject><subject>Thyroid. Thyroid axis (diseases)</subject><subject>Transcription Factors - chemistry</subject><subject>Transcription Factors - genetics</subject><subject>Transcriptional Activation</subject><subject>Vertebrates: anatomy and physiology, studies on body, several organs or systems</subject><subject>Vertebrates: endocrinology</subject><issn>0021-972X</issn><issn>1945-7197</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2009</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNptkMGO0zAQhi0EYsvCjTPyBU6kaztxHB_RirYrugtCOezNcpwJdZXYwXZA5QV4bVI1ggsnS-Nv_pn5EHpNyZoySm6OZs0IqTJaEPYEragseCaoFE_RihBGMynY4xV6EeOREFoUPH-OrmgluShksUK_95AOusdfIY426OTDCW-07acAWLsW39u-xV-CHfT8sTuNPh1OwdvWxgFbhzWuIQx4a0OPf9p0mAst4Af_w-MdJAj-1-mbnyK-n5JO1rtzTzoAru_qDb15-PTI1hRvwcFL9KzTfYRXy3uN6s3H-naX7T9v724_7DOTl3maD-uqQhdtTiqhNS9FQxopc1lKDqQTDYdGVIwwI0pdyJJ3DW-5YJQRSsuuy6_Ru0vsGPz3CWJSg40G-l47mPdUZSlkJQSfwfcX0AQfY4BOjRcJihJ19q6ORp29q7P3GX-z5E7NAO0_eBE9A28XQEej-y5oZ2z8y82BbAnKLxy41ptgHYwBYlRHPwU3i_n_-D_4nJrO</recordid><startdate>200901</startdate><enddate>200901</enddate><creator>Maquet, Emilie</creator><creator>Costagliola, Sabine</creator><creator>Parma, Jasmine</creator><creator>Christophe-Hobertus, Christiane</creator><creator>Oligny, Luc L.</creator><creator>Fournet, Jean-Christophe</creator><creator>Robitaille, Yves</creator><creator>Vuissoz, Jean-Marc</creator><creator>Payot, Antoine</creator><creator>Laberge, Sophie</creator><creator>Vassart, Gilbert</creator><creator>Van Vliet, Guy</creator><creator>Deladoëy, Johnny</creator><general>Endocrine Society</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>7X8</scope></search><sort><creationdate>200901</creationdate><title>Lethal Respiratory Failure and Mild Primary Hypothyroidism in a Term Girl with a de Novo Heterozygous Mutation in the TITF1/NKX2.1 Gene</title><author>Maquet, Emilie ; Costagliola, Sabine ; Parma, Jasmine ; Christophe-Hobertus, Christiane ; Oligny, Luc L. ; Fournet, Jean-Christophe ; Robitaille, Yves ; Vuissoz, Jean-Marc ; Payot, Antoine ; Laberge, Sophie ; Vassart, Gilbert ; Van Vliet, Guy ; Deladoëy, Johnny</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c363t-71f84a4d3087aa567b0b9939695e0f7b5eb78202c76a4965fb5d572120116ff3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2009</creationdate><topic>Amino Acid Sequence</topic><topic>Animals</topic><topic>Biological and medical sciences</topic><topic>Cercopithecus aethiops</topic><topic>COS Cells</topic><topic>DNA - metabolism</topic><topic>Endocrinopathies</topic><topic>Feeding. Feeding behavior</topic><topic>Female</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Heterozygote</topic><topic>Humans</topic><topic>Hypothyroidism - genetics</topic><topic>Immunohistochemistry</topic><topic>Infant, Newborn</topic><topic>Medical sciences</topic><topic>Molecular Sequence Data</topic><topic>Mutation</topic><topic>Non tumoral diseases. Target tissue resistance. Benign neoplasms</topic><topic>Nuclear Proteins - chemistry</topic><topic>Nuclear Proteins - genetics</topic><topic>Respiratory Insufficiency - genetics</topic><topic>Sequence Analysis, DNA</topic><topic>Thyroid Nuclear Factor 1</topic><topic>Thyroid. Thyroid axis (diseases)</topic><topic>Transcription Factors - chemistry</topic><topic>Transcription Factors - genetics</topic><topic>Transcriptional Activation</topic><topic>Vertebrates: anatomy and physiology, studies on body, several organs or systems</topic><topic>Vertebrates: endocrinology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Maquet, Emilie</creatorcontrib><creatorcontrib>Costagliola, Sabine</creatorcontrib><creatorcontrib>Parma, Jasmine</creatorcontrib><creatorcontrib>Christophe-Hobertus, Christiane</creatorcontrib><creatorcontrib>Oligny, Luc L.</creatorcontrib><creatorcontrib>Fournet, Jean-Christophe</creatorcontrib><creatorcontrib>Robitaille, Yves</creatorcontrib><creatorcontrib>Vuissoz, Jean-Marc</creatorcontrib><creatorcontrib>Payot, Antoine</creatorcontrib><creatorcontrib>Laberge, Sophie</creatorcontrib><creatorcontrib>Vassart, Gilbert</creatorcontrib><creatorcontrib>Van Vliet, Guy</creatorcontrib><creatorcontrib>Deladoëy, Johnny</creatorcontrib><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>MEDLINE - Academic</collection><jtitle>The journal of clinical endocrinology and metabolism</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Maquet, Emilie</au><au>Costagliola, Sabine</au><au>Parma, Jasmine</au><au>Christophe-Hobertus, Christiane</au><au>Oligny, Luc L.</au><au>Fournet, Jean-Christophe</au><au>Robitaille, Yves</au><au>Vuissoz, Jean-Marc</au><au>Payot, Antoine</au><au>Laberge, Sophie</au><au>Vassart, Gilbert</au><au>Van Vliet, Guy</au><au>Deladoëy, Johnny</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Lethal Respiratory Failure and Mild Primary Hypothyroidism in a Term Girl with a de Novo Heterozygous Mutation in the TITF1/NKX2.1 Gene</atitle><jtitle>The journal of clinical endocrinology and metabolism</jtitle><addtitle>J Clin Endocrinol Metab</addtitle><date>2009-01</date><risdate>2009</risdate><volume>94</volume><issue>1</issue><spage>197</spage><epage>203</epage><pages>197-203</pages><issn>0021-972X</issn><eissn>1945-7197</eissn><coden>JCEMAZ</coden><abstract>Context: Thyroid transcription factor 1 (TITF1/NKX2.1) is expressed in the thyroid, lung, ventral forebrain, and pituitary. In the lung, TITF1/NKX2.1 activates the expression of genes critical for lung development and function. Titf/Nkx2.1−/− mice have pituitary and thyroid aplasia but also impairment of pulmonary branching. Humans with heterozygous TITF1/NKX2.1 mutations present with various combinations of primary hypothyroidism, respiratory distress, and neurological disorders.
Objective: The objective of the study was to report clinical and molecular studies of the first patient with lethal neonatal respiratory distress from a novel heterozygous TITF1/NKX2.1 mutation.
Participant: This girl, the first child of healthy nonconsanguineous French-Canadian parents, was born at 41 wk. Birth weight was 3460 g and Apgar scores were normal. Soon after birth, she developed acute respiratory failure with pulmonary hypertension. At neonatal screening on the second day of life, TSH was 31 mU/liter (N <15) and total T4 245 nmol/liter (N = 120–350). Despite mechanical ventilation, thyroxine, surfactant, and pulmonary vasodilators, the patient died on the 40th day.
Results: Histopathology revealed pulmonary tissue with low alveolar counts. The thyroid was normal. Sequencing of the patient’s lymphocyte DNA revealed a novel heterozygous TITF1/NKX2.1 mutation (I207F). This mutation was not found in either parent. In vitro, the mutant TITF-1 had reduced DNA binding and transactivation capacity.
Conclusion: This is the first reported case of a heterozygous TITF1/NKX2.1 mutation leading to neonatal death from respiratory failure. The association of severe unexplained respiratory distress in a term neonate with mild primary hypothyroidism is the clue that led to the diagnosis.
A heterozygous mutation for thyroid transcription factor 1 (TITF1/NKX2.1) accounts for elevated thyrotropin levels associated with unexplained lethal respiratory failure in a term neonate.</abstract><cop>Bethesda, MD</cop><pub>Endocrine Society</pub><pmid>18957494</pmid><doi>10.1210/jc.2008-1402</doi><tpages>7</tpages></addata></record> |
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| source | MEDLINE; Oxford University Press Journals All Titles (1996-Current); EZB-FREE-00999 freely available EZB journals; Alma/SFX Local Collection |
| subjects | Amino Acid Sequence Animals Biological and medical sciences Cercopithecus aethiops COS Cells DNA - metabolism Endocrinopathies Feeding. Feeding behavior Female Fundamental and applied biological sciences. Psychology Heterozygote Humans Hypothyroidism - genetics Immunohistochemistry Infant, Newborn Medical sciences Molecular Sequence Data Mutation Non tumoral diseases. Target tissue resistance. Benign neoplasms Nuclear Proteins - chemistry Nuclear Proteins - genetics Respiratory Insufficiency - genetics Sequence Analysis, DNA Thyroid Nuclear Factor 1 Thyroid. Thyroid axis (diseases) Transcription Factors - chemistry Transcription Factors - genetics Transcriptional Activation Vertebrates: anatomy and physiology, studies on body, several organs or systems Vertebrates: endocrinology |
| title | Lethal Respiratory Failure and Mild Primary Hypothyroidism in a Term Girl with a de Novo Heterozygous Mutation in the TITF1/NKX2.1 Gene |
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