Infantile hypertrophic pyloric stenosis in patients with esophageal atresia
Background Patients born with esophageal atresia (EA) have a higher incidence of infantile hypertrophic pyloric stenosis (IHPS), suggestive of a relationship. A shared etiology makes sense from a developmental perspective as both affected structures are foregut derived. A genetic component has been...
Gespeichert in:
| Veröffentlicht in: | Birth defects research 2020-05, Vol.112 (9), p.670-687 |
|---|---|
| Hauptverfasser: | , , , , , , , , , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 687 |
|---|---|
| container_issue | 9 |
| container_start_page | 670 |
| container_title | Birth defects research |
| container_volume | 112 |
| creator | Kate, Chantal A. Brouwer, Rutger W. W. Bever, Yolande Martens, Vera K. Brands, Tom Beelen, Nicole W. G. Brooks, Alice S. Huigh, Daphne Helm, Robert M. Eussen, Bert H. F. M. M. IJcken, Wilfred F. J. IJsselstijn, Hanneke Tibboel, Dick Wijnen, Rene M. H. Klein, Annelies Hofstra, Robert M. W. Brosens, Erwin |
| description | Background
Patients born with esophageal atresia (EA) have a higher incidence of infantile hypertrophic pyloric stenosis (IHPS), suggestive of a relationship. A shared etiology makes sense from a developmental perspective as both affected structures are foregut derived. A genetic component has been described for both conditions as single entities and EA and IHPS are variable components in several monogenetic syndromes. We hypothesized that defects disturbing foregut morphogenesis are responsible for this combination of malformations.
Methods
We investigated the genetic variation of 15 patients with both EA and IHPS with unaffected parents using exome sequencing and SNP array‐based genotyping, and compared the results to mouse transcriptome data of the developing foregut.
Results
We did not identify putatively deleterious de novo mutations or recessive variants. However, we detected rare inherited variants in EA or IHPS disease genes or in genes important in foregut morphogenesis, expressed at the proper developmental time‐points. Two pathways were significantly enriched (p |
| doi_str_mv | 10.1002/bdr2.1683 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_2390648936</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2400245626</sourcerecordid><originalsourceid>FETCH-LOGICAL-c3883-27eb8ab47220dfa78824a333b02b84ba5510f3a0773849b6125df2ecb1001b8f3</originalsourceid><addsrcrecordid>eNp1kF1LwzAUhoMoTuYu_ANS8EYvuiUn_UgvdX4NB4LodUja1GV0bU1SRv-9qZsiglfvuXh4ec-D0BnBU4IxzGRhYEoSRg_QCUQphCSF9PDXPUITa9cYY8KApJQdoxEFyBiOoxP0tKhLUTtdqWDVt8o407QrnQdtXzXGp3Wqbqy2ga6DVjitameDrXarQFlPinclqkA4o6wWp-ioFJVVk32O0dv93ev8MVw-Pyzm18swp4zREFIlmZB-HuCiFCljEAlKqcQgWSRFHBNcUoFTvzXKZEIgLkpQufTvEslKOkaXu97WNB-dso5vtM1VVYlaNZ3lQDOcRCyjiUcv_qDrpjO1X8ch8vaiOIGButpRuWmsNarkrdEbYXpOMB8k80EyHyR79nzf2MmNKn7Ib6UemO2ArZfa_9_Eb25f4KvyE3ROhMY</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2400245626</pqid></control><display><type>article</type><title>Infantile hypertrophic pyloric stenosis in patients with esophageal atresia</title><source>Wiley Online Library</source><creator>Kate, Chantal A. ; Brouwer, Rutger W. W. ; Bever, Yolande ; Martens, Vera K. ; Brands, Tom ; Beelen, Nicole W. G. ; Brooks, Alice S. ; Huigh, Daphne ; Helm, Robert M. ; Eussen, Bert H. F. M. M. ; IJcken, Wilfred F. J. ; IJsselstijn, Hanneke ; Tibboel, Dick ; Wijnen, Rene M. H. ; Klein, Annelies ; Hofstra, Robert M. W. ; Brosens, Erwin</creator><creatorcontrib>Kate, Chantal A. ; Brouwer, Rutger W. W. ; Bever, Yolande ; Martens, Vera K. ; Brands, Tom ; Beelen, Nicole W. G. ; Brooks, Alice S. ; Huigh, Daphne ; Helm, Robert M. ; Eussen, Bert H. F. M. M. ; IJcken, Wilfred F. J. ; IJsselstijn, Hanneke ; Tibboel, Dick ; Wijnen, Rene M. H. ; Klein, Annelies ; Hofstra, Robert M. W. ; Brosens, Erwin</creatorcontrib><description>Background
Patients born with esophageal atresia (EA) have a higher incidence of infantile hypertrophic pyloric stenosis (IHPS), suggestive of a relationship. A shared etiology makes sense from a developmental perspective as both affected structures are foregut derived. A genetic component has been described for both conditions as single entities and EA and IHPS are variable components in several monogenetic syndromes. We hypothesized that defects disturbing foregut morphogenesis are responsible for this combination of malformations.
Methods
We investigated the genetic variation of 15 patients with both EA and IHPS with unaffected parents using exome sequencing and SNP array‐based genotyping, and compared the results to mouse transcriptome data of the developing foregut.
Results
We did not identify putatively deleterious de novo mutations or recessive variants. However, we detected rare inherited variants in EA or IHPS disease genes or in genes important in foregut morphogenesis, expressed at the proper developmental time‐points. Two pathways were significantly enriched (p < 1 × 10−5): proliferation and differentiation of smooth muscle cells and self‐renewal of satellite cells.
Conclusions
None of our findings could fully explain the combination of abnormalities on its own, which makes complex inheritance the most plausible genetic explanation, most likely in combination with mechanical and/or environmental factors. As we did not find one defining monogenetic cause for the EA/IHPS phenotype, the impact of the corrective surgery could should be further investigated.</description><identifier>ISSN: 2472-1727</identifier><identifier>EISSN: 2472-1727</identifier><identifier>DOI: 10.1002/bdr2.1683</identifier><identifier>PMID: 32298054</identifier><language>eng</language><publisher>Hoboken, USA: John Wiley & Sons, Inc</publisher><subject>Abnormalities ; Cell differentiation ; Cell proliferation ; Cell self-renewal ; Cells (biology) ; Environmental factors ; esophageal atresia ; Esophagus ; Etiology ; Eutrophication ; exome sequencing ; Foregut ; Gene expression ; Genes ; Genetic diversity ; Genotyping ; Heredity ; infantile hypertrophic pyloric stenosis ; Mechanical properties ; Morphogenesis ; Muscles ; Mutation ; Phenotypes ; Satellite cells ; Single-nucleotide polymorphism ; Smooth muscle ; Stenosis ; Surgery ; tracheoesophageal fistula ; VACTERL</subject><ispartof>Birth defects research, 2020-05, Vol.112 (9), p.670-687</ispartof><rights>2020 Wiley Periodicals, Inc.</rights><rights>2020. This article is published under http://creativecommons.org/licenses/by-nc-nd/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3883-27eb8ab47220dfa78824a333b02b84ba5510f3a0773849b6125df2ecb1001b8f3</citedby><cites>FETCH-LOGICAL-c3883-27eb8ab47220dfa78824a333b02b84ba5510f3a0773849b6125df2ecb1001b8f3</cites><orcidid>0000-0001-9921-7776</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fbdr2.1683$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fbdr2.1683$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/32298054$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Kate, Chantal A.</creatorcontrib><creatorcontrib>Brouwer, Rutger W. W.</creatorcontrib><creatorcontrib>Bever, Yolande</creatorcontrib><creatorcontrib>Martens, Vera K.</creatorcontrib><creatorcontrib>Brands, Tom</creatorcontrib><creatorcontrib>Beelen, Nicole W. G.</creatorcontrib><creatorcontrib>Brooks, Alice S.</creatorcontrib><creatorcontrib>Huigh, Daphne</creatorcontrib><creatorcontrib>Helm, Robert M.</creatorcontrib><creatorcontrib>Eussen, Bert H. F. M. M.</creatorcontrib><creatorcontrib>IJcken, Wilfred F. J.</creatorcontrib><creatorcontrib>IJsselstijn, Hanneke</creatorcontrib><creatorcontrib>Tibboel, Dick</creatorcontrib><creatorcontrib>Wijnen, Rene M. H.</creatorcontrib><creatorcontrib>Klein, Annelies</creatorcontrib><creatorcontrib>Hofstra, Robert M. W.</creatorcontrib><creatorcontrib>Brosens, Erwin</creatorcontrib><title>Infantile hypertrophic pyloric stenosis in patients with esophageal atresia</title><title>Birth defects research</title><addtitle>Birth Defects Res</addtitle><description>Background
Patients born with esophageal atresia (EA) have a higher incidence of infantile hypertrophic pyloric stenosis (IHPS), suggestive of a relationship. A shared etiology makes sense from a developmental perspective as both affected structures are foregut derived. A genetic component has been described for both conditions as single entities and EA and IHPS are variable components in several monogenetic syndromes. We hypothesized that defects disturbing foregut morphogenesis are responsible for this combination of malformations.
Methods
We investigated the genetic variation of 15 patients with both EA and IHPS with unaffected parents using exome sequencing and SNP array‐based genotyping, and compared the results to mouse transcriptome data of the developing foregut.
Results
We did not identify putatively deleterious de novo mutations or recessive variants. However, we detected rare inherited variants in EA or IHPS disease genes or in genes important in foregut morphogenesis, expressed at the proper developmental time‐points. Two pathways were significantly enriched (p < 1 × 10−5): proliferation and differentiation of smooth muscle cells and self‐renewal of satellite cells.
Conclusions
None of our findings could fully explain the combination of abnormalities on its own, which makes complex inheritance the most plausible genetic explanation, most likely in combination with mechanical and/or environmental factors. As we did not find one defining monogenetic cause for the EA/IHPS phenotype, the impact of the corrective surgery could should be further investigated.</description><subject>Abnormalities</subject><subject>Cell differentiation</subject><subject>Cell proliferation</subject><subject>Cell self-renewal</subject><subject>Cells (biology)</subject><subject>Environmental factors</subject><subject>esophageal atresia</subject><subject>Esophagus</subject><subject>Etiology</subject><subject>Eutrophication</subject><subject>exome sequencing</subject><subject>Foregut</subject><subject>Gene expression</subject><subject>Genes</subject><subject>Genetic diversity</subject><subject>Genotyping</subject><subject>Heredity</subject><subject>infantile hypertrophic pyloric stenosis</subject><subject>Mechanical properties</subject><subject>Morphogenesis</subject><subject>Muscles</subject><subject>Mutation</subject><subject>Phenotypes</subject><subject>Satellite cells</subject><subject>Single-nucleotide polymorphism</subject><subject>Smooth muscle</subject><subject>Stenosis</subject><subject>Surgery</subject><subject>tracheoesophageal fistula</subject><subject>VACTERL</subject><issn>2472-1727</issn><issn>2472-1727</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><recordid>eNp1kF1LwzAUhoMoTuYu_ANS8EYvuiUn_UgvdX4NB4LodUja1GV0bU1SRv-9qZsiglfvuXh4ec-D0BnBU4IxzGRhYEoSRg_QCUQphCSF9PDXPUITa9cYY8KApJQdoxEFyBiOoxP0tKhLUTtdqWDVt8o407QrnQdtXzXGp3Wqbqy2ga6DVjitameDrXarQFlPinclqkA4o6wWp-ioFJVVk32O0dv93ev8MVw-Pyzm18swp4zREFIlmZB-HuCiFCljEAlKqcQgWSRFHBNcUoFTvzXKZEIgLkpQufTvEslKOkaXu97WNB-dso5vtM1VVYlaNZ3lQDOcRCyjiUcv_qDrpjO1X8ch8vaiOIGButpRuWmsNarkrdEbYXpOMB8k80EyHyR79nzf2MmNKn7Ib6UemO2ArZfa_9_Eb25f4KvyE3ROhMY</recordid><startdate>20200515</startdate><enddate>20200515</enddate><creator>Kate, Chantal A.</creator><creator>Brouwer, Rutger W. W.</creator><creator>Bever, Yolande</creator><creator>Martens, Vera K.</creator><creator>Brands, Tom</creator><creator>Beelen, Nicole W. G.</creator><creator>Brooks, Alice S.</creator><creator>Huigh, Daphne</creator><creator>Helm, Robert M.</creator><creator>Eussen, Bert H. F. M. M.</creator><creator>IJcken, Wilfred F. J.</creator><creator>IJsselstijn, Hanneke</creator><creator>Tibboel, Dick</creator><creator>Wijnen, Rene M. H.</creator><creator>Klein, Annelies</creator><creator>Hofstra, Robert M. W.</creator><creator>Brosens, Erwin</creator><general>John Wiley & Sons, Inc</general><general>Wiley Subscription Services, Inc</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7TK</scope><scope>7U7</scope><scope>C1K</scope><scope>K9.</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0001-9921-7776</orcidid></search><sort><creationdate>20200515</creationdate><title>Infantile hypertrophic pyloric stenosis in patients with esophageal atresia</title><author>Kate, Chantal A. ; Brouwer, Rutger W. W. ; Bever, Yolande ; Martens, Vera K. ; Brands, Tom ; Beelen, Nicole W. G. ; Brooks, Alice S. ; Huigh, Daphne ; Helm, Robert M. ; Eussen, Bert H. F. M. M. ; IJcken, Wilfred F. J. ; IJsselstijn, Hanneke ; Tibboel, Dick ; Wijnen, Rene M. H. ; Klein, Annelies ; Hofstra, Robert M. W. ; Brosens, Erwin</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3883-27eb8ab47220dfa78824a333b02b84ba5510f3a0773849b6125df2ecb1001b8f3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>Abnormalities</topic><topic>Cell differentiation</topic><topic>Cell proliferation</topic><topic>Cell self-renewal</topic><topic>Cells (biology)</topic><topic>Environmental factors</topic><topic>esophageal atresia</topic><topic>Esophagus</topic><topic>Etiology</topic><topic>Eutrophication</topic><topic>exome sequencing</topic><topic>Foregut</topic><topic>Gene expression</topic><topic>Genes</topic><topic>Genetic diversity</topic><topic>Genotyping</topic><topic>Heredity</topic><topic>infantile hypertrophic pyloric stenosis</topic><topic>Mechanical properties</topic><topic>Morphogenesis</topic><topic>Muscles</topic><topic>Mutation</topic><topic>Phenotypes</topic><topic>Satellite cells</topic><topic>Single-nucleotide polymorphism</topic><topic>Smooth muscle</topic><topic>Stenosis</topic><topic>Surgery</topic><topic>tracheoesophageal fistula</topic><topic>VACTERL</topic><toplevel>online_resources</toplevel><creatorcontrib>Kate, Chantal A.</creatorcontrib><creatorcontrib>Brouwer, Rutger W. W.</creatorcontrib><creatorcontrib>Bever, Yolande</creatorcontrib><creatorcontrib>Martens, Vera K.</creatorcontrib><creatorcontrib>Brands, Tom</creatorcontrib><creatorcontrib>Beelen, Nicole W. G.</creatorcontrib><creatorcontrib>Brooks, Alice S.</creatorcontrib><creatorcontrib>Huigh, Daphne</creatorcontrib><creatorcontrib>Helm, Robert M.</creatorcontrib><creatorcontrib>Eussen, Bert H. F. M. M.</creatorcontrib><creatorcontrib>IJcken, Wilfred F. J.</creatorcontrib><creatorcontrib>IJsselstijn, Hanneke</creatorcontrib><creatorcontrib>Tibboel, Dick</creatorcontrib><creatorcontrib>Wijnen, Rene M. H.</creatorcontrib><creatorcontrib>Klein, Annelies</creatorcontrib><creatorcontrib>Hofstra, Robert M. W.</creatorcontrib><creatorcontrib>Brosens, Erwin</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><collection>Toxicology Abstracts</collection><collection>Environmental Sciences and Pollution Management</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>MEDLINE - Academic</collection><jtitle>Birth defects research</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Kate, Chantal A.</au><au>Brouwer, Rutger W. W.</au><au>Bever, Yolande</au><au>Martens, Vera K.</au><au>Brands, Tom</au><au>Beelen, Nicole W. G.</au><au>Brooks, Alice S.</au><au>Huigh, Daphne</au><au>Helm, Robert M.</au><au>Eussen, Bert H. F. M. M.</au><au>IJcken, Wilfred F. J.</au><au>IJsselstijn, Hanneke</au><au>Tibboel, Dick</au><au>Wijnen, Rene M. H.</au><au>Klein, Annelies</au><au>Hofstra, Robert M. W.</au><au>Brosens, Erwin</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Infantile hypertrophic pyloric stenosis in patients with esophageal atresia</atitle><jtitle>Birth defects research</jtitle><addtitle>Birth Defects Res</addtitle><date>2020-05-15</date><risdate>2020</risdate><volume>112</volume><issue>9</issue><spage>670</spage><epage>687</epage><pages>670-687</pages><issn>2472-1727</issn><eissn>2472-1727</eissn><abstract>Background
Patients born with esophageal atresia (EA) have a higher incidence of infantile hypertrophic pyloric stenosis (IHPS), suggestive of a relationship. A shared etiology makes sense from a developmental perspective as both affected structures are foregut derived. A genetic component has been described for both conditions as single entities and EA and IHPS are variable components in several monogenetic syndromes. We hypothesized that defects disturbing foregut morphogenesis are responsible for this combination of malformations.
Methods
We investigated the genetic variation of 15 patients with both EA and IHPS with unaffected parents using exome sequencing and SNP array‐based genotyping, and compared the results to mouse transcriptome data of the developing foregut.
Results
We did not identify putatively deleterious de novo mutations or recessive variants. However, we detected rare inherited variants in EA or IHPS disease genes or in genes important in foregut morphogenesis, expressed at the proper developmental time‐points. Two pathways were significantly enriched (p < 1 × 10−5): proliferation and differentiation of smooth muscle cells and self‐renewal of satellite cells.
Conclusions
None of our findings could fully explain the combination of abnormalities on its own, which makes complex inheritance the most plausible genetic explanation, most likely in combination with mechanical and/or environmental factors. As we did not find one defining monogenetic cause for the EA/IHPS phenotype, the impact of the corrective surgery could should be further investigated.</abstract><cop>Hoboken, USA</cop><pub>John Wiley & Sons, Inc</pub><pmid>32298054</pmid><doi>10.1002/bdr2.1683</doi><tpages>18</tpages><orcidid>https://orcid.org/0000-0001-9921-7776</orcidid><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 2472-1727 |
| ispartof | Birth defects research, 2020-05, Vol.112 (9), p.670-687 |
| issn | 2472-1727 2472-1727 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_2390648936 |
| source | Wiley Online Library |
| subjects | Abnormalities Cell differentiation Cell proliferation Cell self-renewal Cells (biology) Environmental factors esophageal atresia Esophagus Etiology Eutrophication exome sequencing Foregut Gene expression Genes Genetic diversity Genotyping Heredity infantile hypertrophic pyloric stenosis Mechanical properties Morphogenesis Muscles Mutation Phenotypes Satellite cells Single-nucleotide polymorphism Smooth muscle Stenosis Surgery tracheoesophageal fistula VACTERL |
| title | Infantile hypertrophic pyloric stenosis in patients with esophageal atresia |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-07T17%3A30%3A36IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Infantile%20hypertrophic%20pyloric%20stenosis%20in%20patients%20with%20esophageal%20atresia&rft.jtitle=Birth%20defects%20research&rft.au=Kate,%20Chantal%20A.&rft.date=2020-05-15&rft.volume=112&rft.issue=9&rft.spage=670&rft.epage=687&rft.pages=670-687&rft.issn=2472-1727&rft.eissn=2472-1727&rft_id=info:doi/10.1002/bdr2.1683&rft_dat=%3Cproquest_cross%3E2400245626%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2400245626&rft_id=info:pmid/32298054&rfr_iscdi=true |