Survival of an infant with homozygous surfactant protein C (SFTPC) mutation
Identifieur interne : 001B79 ( Istex/Corpus ); précédent : 001B78; suivant : 001B80Survival of an infant with homozygous surfactant protein C (SFTPC) mutation
Auteurs : Zeynep Ar Kan-Ayy Ld Z ; Sule Caglayan-Sozmen ; Sakine Is K ; Robin Deterding ; Megan K. Dishop ; Remy Couderc ; Ralph Epaud ; Malek Louha ; Nevin UzunerSource :
- Pediatric Pulmonology [ 8755-6863 ] ; 2014-03.
Abstract
Lung diseases caused by surfactant protein C (SFTPC) mutations are inherited as autosomal traits with variable penetrance and severity or as sporadic disease caused by a de novo mutation on one allele. Here, we report the case of a child surviving with a homozygous surfactant protein C mutation after aggressive clinical management unlike his six siblings who died in infancy. This presentation raises the suspicion of an autosomal recessive inheritence that is discussed in this report. Pediatr Pulmonol. 2014; 49:E112–E115. © 2013 Wiley Periodicals, Inc.
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DOI: 10.1002/ppul.22976
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ISTEX:E828D481C2C3C2B4DC7669FA502AA5B692BE2EF8Le document en format XML
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Here, we report the case of a child surviving with a homozygous surfactant protein C mutation after aggressive clinical management unlike his six siblings who died in infancy. This presentation raises the suspicion of an autosomal recessive inheritence that is discussed in this report. Pediatr Pulmonol. 2014; 49:E112–E115. © 2013 Wiley Periodicals, Inc.</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Zeynep Arıkan‐Ayyıldız MD</name><affiliations><json:string>Faculty of Medicine, Department of Pediatric Allergy and Pulmonology, Dokuz Eylul University, Izmir, Turkey</json:string><json:string>E-mail: zeynep.ayyildiz@deu.edu.tr</json:string></affiliations></json:item><json:item><name>Sule Caglayan‐Sozmen MD</name><affiliations><json:string>Faculty of Medicine, Department of Pediatric Allergy and Pulmonology, Dokuz Eylul University, Izmir, Turkey</json:string></affiliations></json:item><json:item><name>Sakine Isık MD</name><affiliations><json:string>Faculty of Medicine, Department of Pediatric Allergy and Pulmonology, Dokuz Eylul University, Izmir, Turkey</json:string></affiliations></json:item><json:item><name>Robin Deterding MD</name><affiliations><json:string>Department of Pediatric Pulmonology, The Children's Hospital Colorado, University of Colorado, Colorado, Aurora</json:string></affiliations></json:item><json:item><name>Megan K. Dishop MD</name><affiliations><json:string>Department of Pathology, The Children's Hospital Colorado, University of Colorado, Colorado, Aurora</json:string></affiliations></json:item><json:item><name>Remy Couderc MD</name><affiliations><json:string>AP‐HP, Hôpital Armand Trousseau, Service de Biochimie‐Génétique Moléculaire, Paris, France</json:string></affiliations></json:item><json:item><name>Ralph Epaud MD</name><affiliations><json:string>Service de Pédiatrie, Centre Hospitalier Intercommunal de Créteil, Créteil, France</json:string><json:string>Inserm, U955, Equipe 11, Créteil, France</json:string><json:string>Faculté de Médecine, Université Paris‐Est, Créteil, France</json:string></affiliations></json:item><json:item><name>Malek Louha MD</name><affiliations><json:string>AP‐HP, Hôpital Armand Trousseau, Service de Biochimie‐Génétique Moléculaire, Paris, France</json:string></affiliations></json:item><json:item><name>Nevin Uzuner MD</name><affiliations><json:string>Faculty of Medicine, Department of Pediatric Allergy and Pulmonology, Dokuz Eylul University, Izmir, Turkey</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>autosomal recessive</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>SFTPC</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>surfactant protein C deficiency</value></json:item></subject><articleId><json:string>PPUL22976</json:string></articleId><arkIstex>ark:/67375/WNG-N2XPN2RL-K</arkIstex><language><json:string>eng</json:string></language><originalGenre><json:string>article</json:string></originalGenre><abstract>Lung diseases caused by surfactant protein C (SFTPC) mutations are inherited as autosomal traits with variable penetrance and severity or as sporadic disease caused by a de novo mutation on one allele. 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This presentation raises the suspicion of an autosomal recessive inheritence that is discussed in this report. <hi rend="bold">Pediatr Pulmonol. 2014; 49:E112–E115.</hi> © 2013 Wiley Periodicals, Inc.</p></abstract><textClass><keywords xml:lang="en"><term xml:id="ppul22976-kwd-0001">autosomal recessive</term><term xml:id="ppul22976-kwd-0002"><hi rend="italic">SFTPC</hi></term><term xml:id="ppul22976-kwd-0003">surfactant protein C deficiency</term></keywords><keywords rend="articleCategory"><term>Case Report</term></keywords><keywords rend="tocHeading1"><term>Case Reports</term></keywords></textClass><langUsage><language ident="en"></language></langUsage></profileDesc><revisionDesc><change when="2019-12-20" who="#istex" xml:id="pub2tei">formatting</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/ark:/67375/WNG-N2XPN2RL-K/fulltext.txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" xml:lang="en" type="serialArticle" xml:id="ppul22976"><header><publicationMeta level="product"><doi origin="wiley" registered="yes">10.1002/(ISSN)1099-0496</doi><issn type="print">8755-6863</issn><issn type="electronic">1099-0496</issn><idGroup><id type="product" value="PPUL"></id></idGroup><titleGroup><title type="main" sort="PEDIATRIC PULMONOLOGY">Pediatric Pulmonology</title><title type="short">Pediatr Pulmonol.</title></titleGroup></publicationMeta><publicationMeta level="part" position="30"><doi registered="yes">10.1002/ppul.v49.3</doi><copyright ownership="publisher">© 2013 Wiley Periodicals, Inc.</copyright><numberingGroup><numbering type="journalVolume" number="49">49</numbering><numbering type="journalIssue">3</numbering></numberingGroup><coverDate startDate="2014-03">March 2014</coverDate></publicationMeta><publicationMeta level="unit" position="420" type="article" status="forIssue"><doi>10.1002/ppul.22976</doi><idGroup><id type="unit" value="PPUL22976"></id></idGroup><countGroup><count type="pageTotal" number="4"></count></countGroup><titleGroup><title type="articleCategory">Case Report</title><title type="tocHeading1">Case Reports</title></titleGroup><copyright ownership="publisher">© 2013 Wiley Periodicals, Inc.</copyright><eventGroup><event type="manuscriptReceived" date="2013-07-03"></event><event type="manuscriptAccepted" date="2013-11-03"></event><event type="xmlCreated" agent="Thomson Digital" date="2013-12-11"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.2.9 mode:FullText" date="2014-02-17"></event><event type="publishedOnlineEarlyUnpaginated" date="2013-12-17"></event><event type="firstOnline" date="2013-12-17"></event><event type="publishedOnlineFinalForm" date="2014-02-17"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.6.4 mode:FullText" date="2015-10-06"></event></eventGroup><numberingGroup><numbering type="pageFirst">E112</numbering><numbering type="pageLast">E115</numbering></numberingGroup><correspondenceTo>Correspondence to: Zeynep Arıkan Ayyıldız, MD, Faculty of Medicine, Department of Pediatric Allergy, Dokuz Eylul University Hospital, Balcova, 35340 Izmir, Turkey. E‐mail: <email>zeynep.ayyildiz@deu.edu.tr</email></correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:PPUL.PPUL22976.pdf"></link></linkGroup></publicationMeta><contentMeta><titleGroup><title type="main">Survival of an infant with homozygous surfactant protein C (SFTPC) mutation</title><title type="short">A Case with Homozygous SFTPC Mutation</title><title type="shortAuthors">Arıkan‐Ayyıldız et al.</title></titleGroup><creators><creator xml:id="ppul22976-cr-0001" creatorRole="author" affiliationRef="#ppul22976-aff-0001" corresponding="yes"><personName><givenNames>Zeynep</givenNames> <familyName>Arıkan‐Ayyıldız</familyName><degrees>MD</degrees></personName></creator><creator xml:id="ppul22976-cr-0002" creatorRole="author" affiliationRef="#ppul22976-aff-0001"><personName><givenNames>Sule</givenNames> <familyName>Caglayan‐Sozmen</familyName><degrees>MD</degrees></personName></creator><creator xml:id="ppul22976-cr-0003" creatorRole="author" affiliationRef="#ppul22976-aff-0001"><personName><givenNames>Sakine</givenNames> <familyName>Isık</familyName><degrees>MD</degrees></personName></creator><creator xml:id="ppul22976-cr-0004" creatorRole="author" affiliationRef="#ppul22976-aff-0002"><personName><givenNames>Robin</givenNames> <familyName>Deterding</familyName><degrees>MD</degrees></personName></creator><creator xml:id="ppul22976-cr-0005" creatorRole="author" affiliationRef="#ppul22976-aff-0003"><personName><givenNames>Megan K.</givenNames> <familyName>Dishop</familyName><degrees>MD</degrees></personName></creator><creator xml:id="ppul22976-cr-0006" creatorRole="author" affiliationRef="#ppul22976-aff-0004"><personName><givenNames>Remy</givenNames> <familyName>Couderc</familyName><degrees>MD</degrees></personName></creator><creator xml:id="ppul22976-cr-0007" creatorRole="author" affiliationRef="#ppul22976-aff-0005 #ppul22976-aff-0006 #ppul22976-aff-0007"><personName><givenNames>Ralph</givenNames> <familyName>Epaud</familyName><degrees>MD</degrees></personName></creator><creator xml:id="ppul22976-cr-0008" creatorRole="author" affiliationRef="#ppul22976-aff-0004"><personName><givenNames>Malek</givenNames> <familyName>Louha</familyName><degrees>MD</degrees></personName></creator><creator xml:id="ppul22976-cr-0009" creatorRole="author" affiliationRef="#ppul22976-aff-0001"><personName><givenNames>Nevin</givenNames> <familyName>Uzuner</familyName><degrees>MD</degrees></personName></creator></creators><affiliationGroup><affiliation xml:id="ppul22976-aff-0001" countryCode="TR"><orgDiv>Faculty of Medicine</orgDiv><orgDiv>Department of Pediatric Allergy and Pulmonology</orgDiv><orgName>Dokuz Eylul University</orgName><address><city>Izmir</city><country>Turkey</country></address></affiliation><affiliation xml:id="ppul22976-aff-0002" countryCode="US"><orgDiv>Department of Pediatric Pulmonology</orgDiv><orgName>The Children's Hospital Colorado</orgName><orgName>University of Colorado</orgName><address><city>Aurora</city><countryPart>Colorado</countryPart></address></affiliation><affiliation xml:id="ppul22976-aff-0003" countryCode="US"><orgDiv>Department of Pathology</orgDiv><orgName>The Children's Hospital Colorado</orgName><orgName>University of Colorado</orgName><address><city>Aurora</city><countryPart>Colorado</countryPart></address></affiliation><affiliation xml:id="ppul22976-aff-0004" countryCode="FR"><orgDiv>AP‐HP</orgDiv><orgName>Hôpital Armand Trousseau</orgName><orgName>Service de Biochimie‐Génétique Moléculaire</orgName><address><city>Paris</city><country>France</country></address></affiliation><affiliation xml:id="ppul22976-aff-0005" countryCode="FR"><orgDiv>Service de Pédiatrie</orgDiv><orgName>Centre Hospitalier Intercommunal de Créteil</orgName><address><city>Créteil</city><country>France</country></address></affiliation><affiliation xml:id="ppul22976-aff-0006" countryCode="FR"><orgName>Inserm, U955, Equipe 11</orgName><address><city>Créteil</city><country>France</country></address></affiliation><affiliation xml:id="ppul22976-aff-0007" countryCode="FR"><orgDiv>Faculté de Médecine</orgDiv><orgName>Université Paris‐Est</orgName><address><city>Créteil</city><country>France</country></address></affiliation></affiliationGroup><keywordGroup type="author" xml:lang="en"><keyword xml:id="ppul22976-kwd-0001">autosomal recessive</keyword><keyword xml:id="ppul22976-kwd-0002"><i>SFTPC</i></keyword><keyword xml:id="ppul22976-kwd-0003">surfactant protein C deficiency</keyword></keywordGroup><fundingInfo><fundingAgency>none reported</fundingAgency></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Summary</title><section xml:id="ppul22976-sec-0001"><p>Lung diseases caused by surfactant protein C (<i>SFTPC</i>) mutations are inherited as autosomal traits with variable penetrance and severity or as sporadic disease caused by a de novo mutation on one allele. Here, we report the case of a child surviving with a homozygous surfactant protein C mutation after aggressive clinical management unlike his six siblings who died in infancy. This presentation raises the suspicion of an autosomal recessive inheritence that is discussed in this report. <b>Pediatr Pulmonol. 2014; 49:E112–E115.</b> © 2013 Wiley Periodicals, Inc.</p></section></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="ppul22976-note-0001" numbered="no">Conflict of interest: None.</note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Survival of an infant with homozygous surfactant protein C (SFTPC) mutation</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>A Case with Homozygous SFTPC Mutation</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Survival of an infant with homozygous surfactant protein C (SFTPC) mutation</title></titleInfo><name type="personal"><namePart type="given">Zeynep</namePart><namePart type="family">Arıkan‐Ayyıldız</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Faculty of Medicine, Department of Pediatric Allergy and Pulmonology, Dokuz Eylul University, Izmir, Turkey</affiliation><affiliation>E-mail: zeynep.ayyildiz@deu.edu.tr</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Sule</namePart><namePart type="family">Caglayan‐Sozmen</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Faculty of Medicine, Department of Pediatric Allergy and Pulmonology, Dokuz Eylul University, Izmir, Turkey</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Sakine</namePart><namePart type="family">Isık</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Faculty of Medicine, Department of Pediatric Allergy and Pulmonology, Dokuz Eylul University, Izmir, Turkey</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Robin</namePart><namePart type="family">Deterding</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Pediatric Pulmonology, The Children's Hospital Colorado, University of Colorado, Colorado, Aurora</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Megan K.</namePart><namePart type="family">Dishop</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Pathology, The Children's Hospital Colorado, University of Colorado, Colorado, Aurora</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Remy</namePart><namePart type="family">Couderc</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>AP‐HP, Hôpital Armand Trousseau, Service de Biochimie‐Génétique Moléculaire, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ralph</namePart><namePart type="family">Epaud</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Service de Pédiatrie, Centre Hospitalier Intercommunal de Créteil, Créteil, France</affiliation><affiliation>Inserm, U955, Equipe 11, Créteil, France</affiliation><affiliation>Faculté de Médecine, Université Paris‐Est, Créteil, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Malek</namePart><namePart type="family">Louha</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>AP‐HP, Hôpital Armand Trousseau, Service de Biochimie‐Génétique Moléculaire, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Nevin</namePart><namePart type="family">Uzuner</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Faculty of Medicine, Department of Pediatric Allergy and Pulmonology, Dokuz Eylul University, Izmir, Turkey</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article" authority="ISTEX" authorityURI="https://content-type.data.istex.fr" valueURI="https://content-type.data.istex.fr/ark:/67375/XTP-6N5SZHKN-D">article</genre><originInfo><publisher>Blackwell Publishing Ltd</publisher><dateIssued encoding="w3cdtf">2014-03</dateIssued><dateCreated encoding="w3cdtf">2013-12-11</dateCreated><dateCaptured encoding="w3cdtf">2013-07-03</dateCaptured><dateValid encoding="w3cdtf">2013-11-03</dateValid><copyrightDate encoding="w3cdtf">2014</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><abstract lang="en">Lung diseases caused by surfactant protein C (SFTPC) mutations are inherited as autosomal traits with variable penetrance and severity or as sporadic disease caused by a de novo mutation on one allele. Here, we report the case of a child surviving with a homozygous surfactant protein C mutation after aggressive clinical management unlike his six siblings who died in infancy. This presentation raises the suspicion of an autosomal recessive inheritence that is discussed in this report. Pediatr Pulmonol. 2014; 49:E112–E115. © 2013 Wiley Periodicals, Inc.</abstract><note type="funding">none reported</note><subject lang="en"><genre>keywords</genre><topic>autosomal recessive</topic><topic>SFTPC</topic><topic>surfactant protein C deficiency</topic></subject><relatedItem type="host"><titleInfo><title>Pediatric Pulmonology</title></titleInfo><titleInfo type="abbreviated"><title>Pediatr Pulmonol.</title></titleInfo><genre type="journal" authority="ISTEX" authorityURI="https://publication-type.data.istex.fr" valueURI="https://publication-type.data.istex.fr/ark:/67375/JMC-0GLKJH51-B">journal</genre><subject><genre>article-category</genre><topic>Case Report</topic><topic>Case Reports</topic></subject><identifier type="ISSN">8755-6863</identifier><identifier type="eISSN">1099-0496</identifier><identifier type="DOI">10.1002/(ISSN)1099-0496</identifier><identifier type="PublisherID">PPUL</identifier><part><date>2014</date><detail type="volume"><caption>vol.</caption><number>49</number></detail><detail type="issue"><caption>no.</caption><number>3</number></detail><extent unit="pages"><start>E112</start><end>E115</end><total>4</total></extent></part></relatedItem><relatedItem type="references" displayLabel="ppul22976-cit-0001"><titleInfo><title>A mutation in the surfactant protein C gene associated with familial interstitial lung disease</title></titleInfo><name type="personal"><namePart type="given">LM</namePart><namePart type="family">Nogee</namePart><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">AE</namePart><namePart type="family">Dunbar III</namePart><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">SE</namePart><namePart type="family">Wert</namePart><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">F</namePart><namePart type="family">Askın</namePart><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">A</namePart><namePart type="family">Hamvas</namePart><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">JA</namePart><namePart type="family">Whitsett</namePart><role><roleTerm type="text">author</roleTerm></role></name><genre>journal-article</genre><note type="citation/reference">Nogee LM, Dunbar AE III, Wert SE, Askın F, Hamvas A, Whitsett JA. 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