Hydrops fetalis and pulmonary lymphangiectasia due to FOXC2 mutation: an autosomal dominant hereditary lymphedema syndrome with variable expression.
Identifieur interne : 002026 ( PubMed/Checkpoint ); précédent : 002025; suivant : 002027Hydrops fetalis and pulmonary lymphangiectasia due to FOXC2 mutation: an autosomal dominant hereditary lymphedema syndrome with variable expression.
Auteurs : Gwendolyn De Bruyn [Belgique] ; Alexandra Casaer ; Katrien Devolder ; Geert Van Acker ; Hilde Logghe ; Koen Devriendt ; Luc CornetteSource :
- European journal of pediatrics [ 1432-1076 ] ; 2012.
Descripteurs français
- KwdFr :
- Anasarque foeto-placentaire (diagnostic), Anasarque foeto-placentaire (génétique), Codon non-sens, Facteurs de transcription Forkhead (génétique), Femelle, Gènes dominants, Humains, Hétérozygote, Issue fatale, Lymphangiectasie (), Lymphangiectasie (diagnostic), Lymphangiectasie (génétique), Lymphoedème (diagnostic), Lymphoedème (génétique), Maladies pulmonaires (), Maladies pulmonaires (diagnostic), Maladies pulmonaires (génétique), Marqueurs génétiques, Nouveau-né, Syndrome.
- MESH :
- diagnostic : Anasarque foeto-placentaire, Lymphangiectasie, Lymphoedème, Maladies pulmonaires.
- génétique : Anasarque foeto-placentaire, Facteurs de transcription Forkhead, Lymphangiectasie, Lymphoedème, Maladies pulmonaires.
- Codon non-sens, Femelle, Gènes dominants, Humains, Hétérozygote, Issue fatale, Lymphangiectasie, Maladies pulmonaires, Marqueurs génétiques, Nouveau-né, Syndrome.
English descriptors
- KwdEn :
- Codon, Nonsense, Fatal Outcome, Female, Forkhead Transcription Factors (genetics), Genes, Dominant, Genetic Markers, Heterozygote, Humans, Hydrops Fetalis (diagnosis), Hydrops Fetalis (genetics), Infant, Newborn, Lung Diseases (congenital), Lung Diseases (diagnosis), Lung Diseases (genetics), Lymphangiectasis (congenital), Lymphangiectasis (diagnosis), Lymphangiectasis (genetics), Lymphedema (diagnosis), Lymphedema (genetics), Syndrome.
- MESH :
- chemical , genetics : Forkhead Transcription Factors.
- chemical : Codon, Nonsense, Genetic Markers.
- congenital : Lung Diseases, Lymphangiectasis.
- diagnosis : Hydrops Fetalis, Lung Diseases, Lymphangiectasis, Lymphedema.
- genetics : Hydrops Fetalis, Lung Diseases, Lymphangiectasis, Lymphedema.
- Fatal Outcome, Female, Genes, Dominant, Heterozygote, Humans, Infant, Newborn, Syndrome.
Abstract
Non-immune hydrops fetalis may find its origin within genetically determined lymphedema syndromes, caused by mutations in FOXC2 and SOX-18. We describe a newborn girl, diagnosed with non-immune hydrops fetalis at a gestational age of 30 weeks. Family history revealed the presence of an autosomal dominant late-onset form of lymphedema of the lower limbs in her father, associated with an aberrant implantation of the eyelashes in some individuals. The newborn, hydropic girl suffered from severe pulmonary lymphangiectasia, resulting in terminal respiratory failure at the age of 3 months. Genetic analysis in both the father and the newborn girl demonstrated a heterozygous FOXC2 mutation, i.e., c.939C>A, p.Tyr313X. Her two older sisters are currently asymptomatic and the parents decided not to test them for the FOXC2 mutation.
DOI: 10.1007/s00431-011-1557-8
PubMed: 21918810
Affiliations:
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(genetics)</term><term>Syndrome</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Anasarque foeto-placentaire (diagnostic)</term><term>Anasarque foeto-placentaire (génétique)</term><term>Codon non-sens</term><term>Facteurs de transcription Forkhead (génétique)</term><term>Femelle</term><term>Gènes dominants</term><term>Humains</term><term>Hétérozygote</term><term>Issue fatale</term><term>Lymphangiectasie ()</term><term>Lymphangiectasie (diagnostic)</term><term>Lymphangiectasie (génétique)</term><term>Lymphoedème (diagnostic)</term><term>Lymphoedème (génétique)</term><term>Maladies pulmonaires ()</term><term>Maladies pulmonaires (diagnostic)</term><term>Maladies pulmonaires (génétique)</term><term>Marqueurs génétiques</term><term>Nouveau-né</term><term>Syndrome</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Forkhead Transcription Factors</term></keywords><keywords scheme="MESH" type="chemical" xml:lang="en"><term>Codon, Nonsense</term><term>Genetic Markers</term></keywords><keywords scheme="MESH" qualifier="congenital" xml:lang="en"><term>Lung Diseases</term><term>Lymphangiectasis</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Hydrops Fetalis</term><term>Lung Diseases</term><term>Lymphangiectasis</term><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Anasarque foeto-placentaire</term><term>Lymphangiectasie</term><term>Lymphoedème</term><term>Maladies pulmonaires</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Hydrops Fetalis</term><term>Lung Diseases</term><term>Lymphangiectasis</term><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Anasarque foeto-placentaire</term><term>Facteurs de transcription Forkhead</term><term>Lymphangiectasie</term><term>Lymphoedème</term><term>Maladies pulmonaires</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Fatal Outcome</term><term>Female</term><term>Genes, Dominant</term><term>Heterozygote</term><term>Humans</term><term>Infant, Newborn</term><term>Syndrome</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Codon non-sens</term><term>Femelle</term><term>Gènes dominants</term><term>Humains</term><term>Hétérozygote</term><term>Issue fatale</term><term>Lymphangiectasie</term><term>Maladies pulmonaires</term><term>Marqueurs génétiques</term><term>Nouveau-né</term><term>Syndrome</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Non-immune hydrops fetalis may find its origin within genetically determined lymphedema syndromes, caused by mutations in FOXC2 and SOX-18. We describe a newborn girl, diagnosed with non-immune hydrops fetalis at a gestational age of 30 weeks. Family history revealed the presence of an autosomal dominant late-onset form of lymphedema of the lower limbs in her father, associated with an aberrant implantation of the eyelashes in some individuals. The newborn, hydropic girl suffered from severe pulmonary lymphangiectasia, resulting in terminal respiratory failure at the age of 3 months. Genetic analysis in both the father and the newborn girl demonstrated a heterozygous FOXC2 mutation, i.e., c.939C>A, p.Tyr313X. Her two older sisters are currently asymptomatic and the parents decided not to test them for the FOXC2 mutation.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">21918810</PMID><DateCreated><Year>2012</Year><Month>02</Month><Day>23</Day></DateCreated><DateCompleted><Year>2012</Year><Month>09</Month><Day>13</Day></DateCompleted><DateRevised><Year>2013</Year><Month>05</Month><Day>20</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1432-1076</ISSN><JournalIssue CitedMedium="Internet"><Volume>171</Volume><Issue>3</Issue><PubDate><Year>2012</Year><Month>Mar</Month></PubDate></JournalIssue><Title>European journal of pediatrics</Title><ISOAbbreviation>Eur. J. Pediatr.</ISOAbbreviation></Journal><ArticleTitle>Hydrops fetalis and pulmonary lymphangiectasia due to FOXC2 mutation: an autosomal dominant hereditary lymphedema syndrome with variable expression.</ArticleTitle><Pagination><MedlinePgn>447-50</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1007/s00431-011-1557-8</ELocationID><Abstract><AbstractText Label="UNLABELLED">Non-immune hydrops fetalis may find its origin within genetically determined lymphedema syndromes, caused by mutations in FOXC2 and SOX-18. We describe a newborn girl, diagnosed with non-immune hydrops fetalis at a gestational age of 30 weeks. Family history revealed the presence of an autosomal dominant late-onset form of lymphedema of the lower limbs in her father, associated with an aberrant implantation of the eyelashes in some individuals. The newborn, hydropic girl suffered from severe pulmonary lymphangiectasia, resulting in terminal respiratory failure at the age of 3 months. Genetic analysis in both the father and the newborn girl demonstrated a heterozygous FOXC2 mutation, i.e., c.939C>A, p.Tyr313X. Her two older sisters are currently asymptomatic and the parents decided not to test them for the FOXC2 mutation.</AbstractText><AbstractText Label="CONCLUSION" NlmCategory="CONCLUSIONS">Patients with a mutation in the FOXC2 transcription factor usually show lower limb lymphedema with onset at or after puberty, together with distichiasis. However, the eye manifestations can be very mild and easily overlooked. The association between FOXC2 mutation and neonatal hydrops resulting in terminal respiratory failure is not reported so far. Therefore, in sporadic patients diagnosed with non-immune hydrops fetalis, lymphangiogenic genes should be systematically screened for mutations. In addition, all cases of fetal edema must prompt a thorough analysis of the familial pedigree, in order to detect familial patterns and to facilitate adequate antenatal counseling.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>de Bruyn</LastName><ForeName>Gwendolyn</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>University Hospital of Leuven, Herestraat 49, 3000 Leuven, Belgium. gwendolyn.debruyn@uzleuven.be</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Casaer</LastName><ForeName>Alexandra</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Devolder</LastName><ForeName>Katrien</ForeName><Initials>K</Initials></Author><Author ValidYN="Y"><LastName>Van Acker</LastName><ForeName>Geert</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Logghe</LastName><ForeName>Hilde</ForeName><Initials>H</Initials></Author><Author ValidYN="Y"><LastName>Devriendt</LastName><ForeName>Koen</ForeName><Initials>K</Initials></Author><Author ValidYN="Y"><LastName>Cornette</LastName><ForeName>Luc</ForeName><Initials>L</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2011</Year><Month>09</Month><Day>15</Day></ArticleDate></Article><MedlineJournalInfo><Country>Germany</Country><MedlineTA>Eur J Pediatr</MedlineTA><NlmUniqueID>7603873</NlmUniqueID><ISSNLinking>0340-6199</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D018389">Codon, Nonsense</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D051858">Forkhead Transcription Factors</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D005819">Genetic Markers</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C082078">mesenchyme fork head 1 protein</NameOfSubstance></Chemical></ChemicalList><SupplMeshList><SupplMeshName Type="Disease" UI="C537727">Lymphangiectasia, pulmonary, congenital</SupplMeshName></SupplMeshList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D018389" MajorTopicYN="Y">Codon, Nonsense</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D017809" MajorTopicYN="N">Fatal Outcome</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D051858" MajorTopicYN="N">Forkhead Transcription Factors</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005799" MajorTopicYN="N">Genes, Dominant</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005819" MajorTopicYN="N">Genetic Markers</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006579" MajorTopicYN="N">Heterozygote</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D015160" MajorTopicYN="N">Hydrops Fetalis</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D007231" MajorTopicYN="N">Infant, Newborn</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008171" MajorTopicYN="N">Lung Diseases</DescriptorName><QualifierName UI="Q000151" MajorTopicYN="Y">congenital</QualifierName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008200" MajorTopicYN="N">Lymphangiectasis</DescriptorName><QualifierName UI="Q000151" MajorTopicYN="Y">congenital</QualifierName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008209" MajorTopicYN="N">Lymphedema</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D013577" MajorTopicYN="N">Syndrome</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2011</Year><Month>04</Month><Day>03</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2011</Year><Month>08</Month><Day>10</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2011</Year><Month>9</Month><Day>16</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2011</Year><Month>9</Month><Day>16</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2012</Year><Month>9</Month><Day>14</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">21918810</ArticleId><ArticleId IdType="doi">10.1007/s00431-011-1557-8</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Belgique</li></country><region><li>Province du Brabant flamand</li></region><settlement><li>Louvain</li></settlement></list><tree><noCountry><name sortKey="Casaer, Alexandra" sort="Casaer, Alexandra" uniqKey="Casaer A" first="Alexandra" last="Casaer">Alexandra Casaer</name><name sortKey="Cornette, Luc" sort="Cornette, Luc" uniqKey="Cornette L" first="Luc" last="Cornette">Luc Cornette</name><name sortKey="Devolder, Katrien" sort="Devolder, Katrien" uniqKey="Devolder K" first="Katrien" last="Devolder">Katrien Devolder</name><name sortKey="Devriendt, Koen" sort="Devriendt, Koen" uniqKey="Devriendt K" first="Koen" last="Devriendt">Koen Devriendt</name><name sortKey="Logghe, Hilde" sort="Logghe, Hilde" uniqKey="Logghe H" first="Hilde" last="Logghe">Hilde Logghe</name><name sortKey="Van Acker, Geert" sort="Van Acker, Geert" uniqKey="Van Acker G" first="Geert" last="Van Acker">Geert Van Acker</name></noCountry><country name="Belgique"><region name="Province du Brabant flamand"><name sortKey="De Bruyn, Gwendolyn" sort="De Bruyn, Gwendolyn" uniqKey="De Bruyn G" first="Gwendolyn" last="De Bruyn">Gwendolyn De Bruyn</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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