LymphedemaV1, Main, Exploration, bibRecord, 004939

Hydrops fetalis and pulmonary lymphangiectasia due to FOXC2 mutation: an autosomal dominant hereditary lymphedema syndrome with variable expression

Identifieur interne : 004939 ( Main/Exploration ); précédent : 004938; suivant : 004940

Hydrops fetalis and pulmonary lymphangiectasia due to FOXC2 mutation: an autosomal dominant hereditary lymphedema syndrome with variable expression

Auteurs : Gwendolyn De Bruyn [Belgique] ; Alexandra Casaer [Belgique] ; Katrien Devolder [Belgique] ; Geert Van Acker [Belgique] ; Hilde Logghe [Belgique] ; Koen Devriendt [Belgique] ; Luc Cornette [Belgique]

Source :

European journal of pediatrics [ 0340-6199 ] ; 2012.

RBID : Pascal:12-0129822

Descripteurs français

Pascal (Inist)
- Anasarque foetoplacentaire, Poumon, Mutation, Lymphangiectasie, Génétique, Hérédité, Maladie héréditaire, Caractère autosomique, Héréditaire, Lymphoedème, Syndrome, Expression génique, Pédiatrie.
Wicri :
- topic : Génétique, Pédiatrie.

English descriptors

KwdEn :
- Autosomal character, Gene expression, Genetic disease, Genetics, Hereditary, Hydrops fetalis, Inheritance(genetics), Lung, Lymphangiectasis, Lymphedema, Mutation, Pediatrics, 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. Conclusion: 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.

Affiliations:

Links toward previous steps (curation, corpus...)

to stream PascalFrancis, to step Corpus: 000110
to stream PascalFrancis, to step Curation: 000847
to stream PascalFrancis, to step Checkpoint: 000096
to stream Main, to step Merge: 004968
to stream Main, to step Curation: 004939

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Hydrops fetalis and pulmonary lymphangiectasia due to FOXC2 mutation: an autosomal dominant hereditary lymphedema syndrome with variable expression</title>
<author><name sortKey="De Bruyn, Gwendolyn" sort="De Bruyn, Gwendolyn" uniqKey="De Bruyn G" first="Gwendolyn" last="De Bruyn">Gwendolyn De Bruyn</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>University Hospital of Leuven, Herestraat 49</s1>
<s2>3000 Leuven</s2>
<s3>BEL</s3>
<sZ>1 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<placeName><region type="province" nuts="2">Province du Brabant flamand</region>
<settlement type="city">Louvain</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Casaer, Alexandra" sort="Casaer, Alexandra" uniqKey="Casaer A" first="Alexandra" last="Casaer">Alexandra Casaer</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>AZ Sint Jan Brugge-Oostende AV, Ruddershove 10</s1>
<s2>8000 Brugge</s2>
<s3>BEL</s3>
<sZ>2 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<wicri:noRegion>8000 Brugge</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Devolder, Katrien" sort="Devolder, Katrien" uniqKey="Devolder K" first="Katrien" last="Devolder">Katrien Devolder</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>St Andries Hospital, Krommewalstraat 9</s1>
<s2>8700 Tielt</s2>
<s3>BEL</s3>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<wicri:noRegion>8700 Tielt</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Acker, Geert Van" sort="Acker, Geert Van" uniqKey="Acker G" first="Geert Van" last="Acker">Geert Van Acker</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>St Andries Hospital, Krommewalstraat 9</s1>
<s2>8700 Tielt</s2>
<s3>BEL</s3>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<wicri:noRegion>8700 Tielt</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Logghe, Hilde" sort="Logghe, Hilde" uniqKey="Logghe H" first="Hilde" last="Logghe">Hilde Logghe</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>AZ Sint Lucas Brugge, Ruddershove 10</s1>
<s2>8000 Brugge</s2>
<s3>BEL</s3>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<wicri:noRegion>8000 Brugge</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Devriendt, Koen" sort="Devriendt, Koen" uniqKey="Devriendt K" first="Koen" last="Devriendt">Koen Devriendt</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>University Hospital of Leuven, Herestraat 49</s1>
<s2>3000 Leuven</s2>
<s3>BEL</s3>
<sZ>1 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<placeName><region type="province" nuts="2">Province du Brabant flamand</region>
<settlement type="city">Louvain</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Cornette, Luc" sort="Cornette, Luc" uniqKey="Cornette L" first="Luc" last="Cornette">Luc Cornette</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>AZ Sint Jan Brugge-Oostende AV, Ruddershove 10</s1>
<s2>8000 Brugge</s2>
<s3>BEL</s3>
<sZ>2 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<wicri:noRegion>8000 Brugge</wicri:noRegion>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">12-0129822</idno>
<date when="2012">2012</date>
<idno type="stanalyst">PASCAL 12-0129822 INIST</idno>
<idno type="RBID">Pascal:12-0129822</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">000110</idno>
<idno type="wicri:Area/PascalFrancis/Curation">000847</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">000096</idno>
<idno type="wicri:explorRef" wicri:stream="PascalFrancis" wicri:step="Checkpoint">000096</idno>
<idno type="wicri:doubleKey">0340-6199:2012:De Bruyn G:hydrops:fetalis:and</idno>
<idno type="wicri:Area/Main/Merge">004968</idno>
<idno type="wicri:Area/Main/Curation">004939</idno>
<idno type="wicri:Area/Main/Exploration">004939</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Hydrops fetalis and pulmonary lymphangiectasia due to FOXC2 mutation: an autosomal dominant hereditary lymphedema syndrome with variable expression</title>
<author><name sortKey="De Bruyn, Gwendolyn" sort="De Bruyn, Gwendolyn" uniqKey="De Bruyn G" first="Gwendolyn" last="De Bruyn">Gwendolyn De Bruyn</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>University Hospital of Leuven, Herestraat 49</s1>
<s2>3000 Leuven</s2>
<s3>BEL</s3>
<sZ>1 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<placeName><region type="province" nuts="2">Province du Brabant flamand</region>
<settlement type="city">Louvain</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Casaer, Alexandra" sort="Casaer, Alexandra" uniqKey="Casaer A" first="Alexandra" last="Casaer">Alexandra Casaer</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>AZ Sint Jan Brugge-Oostende AV, Ruddershove 10</s1>
<s2>8000 Brugge</s2>
<s3>BEL</s3>
<sZ>2 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<wicri:noRegion>8000 Brugge</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Devolder, Katrien" sort="Devolder, Katrien" uniqKey="Devolder K" first="Katrien" last="Devolder">Katrien Devolder</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>St Andries Hospital, Krommewalstraat 9</s1>
<s2>8700 Tielt</s2>
<s3>BEL</s3>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<wicri:noRegion>8700 Tielt</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Acker, Geert Van" sort="Acker, Geert Van" uniqKey="Acker G" first="Geert Van" last="Acker">Geert Van Acker</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>St Andries Hospital, Krommewalstraat 9</s1>
<s2>8700 Tielt</s2>
<s3>BEL</s3>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<wicri:noRegion>8700 Tielt</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Logghe, Hilde" sort="Logghe, Hilde" uniqKey="Logghe H" first="Hilde" last="Logghe">Hilde Logghe</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>AZ Sint Lucas Brugge, Ruddershove 10</s1>
<s2>8000 Brugge</s2>
<s3>BEL</s3>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<wicri:noRegion>8000 Brugge</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Devriendt, Koen" sort="Devriendt, Koen" uniqKey="Devriendt K" first="Koen" last="Devriendt">Koen Devriendt</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>University Hospital of Leuven, Herestraat 49</s1>
<s2>3000 Leuven</s2>
<s3>BEL</s3>
<sZ>1 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<placeName><region type="province" nuts="2">Province du Brabant flamand</region>
<settlement type="city">Louvain</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Cornette, Luc" sort="Cornette, Luc" uniqKey="Cornette L" first="Luc" last="Cornette">Luc Cornette</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>AZ Sint Jan Brugge-Oostende AV, Ruddershove 10</s1>
<s2>8000 Brugge</s2>
<s3>BEL</s3>
<sZ>2 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<wicri:noRegion>8000 Brugge</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">European journal of pediatrics</title>
<title level="j" type="abbreviated">Eur. j. pediatr.</title>
<idno type="ISSN">0340-6199</idno>
<imprint><date when="2012">2012</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">European journal of pediatrics</title>
<title level="j" type="abbreviated">Eur. j. pediatr.</title>
<idno type="ISSN">0340-6199</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Autosomal character</term>
<term>Gene expression</term>
<term>Genetic disease</term>
<term>Genetics</term>
<term>Hereditary</term>
<term>Hydrops fetalis</term>
<term>Inheritance(genetics)</term>
<term>Lung</term>
<term>Lymphangiectasis</term>
<term>Lymphedema</term>
<term>Mutation</term>
<term>Pediatrics</term>
<term>Syndrome</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Anasarque foetoplacentaire</term>
<term>Poumon</term>
<term>Mutation</term>
<term>Lymphangiectasie</term>
<term>Génétique</term>
<term>Hérédité</term>
<term>Maladie héréditaire</term>
<term>Caractère autosomique</term>
<term>Héréditaire</term>
<term>Lymphoedème</term>
<term>Syndrome</term>
<term>Expression génique</term>
<term>Pédiatrie</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</term>
<term>Pédiatrie</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. Conclusion: 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.</div>
</front>
</TEI>
<affiliations><list><country><li>Belgique</li>
</country>
<region><li>Province du Brabant flamand</li>
</region>
<settlement><li>Louvain</li>
</settlement>
</list>
<tree><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>
<name sortKey="Acker, Geert Van" sort="Acker, Geert Van" uniqKey="Acker G" first="Geert Van" last="Acker">Geert Van Acker</name>
<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>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Main/Exploration

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 004939 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 004939 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Sante
   |area=    LymphedemaV1
   |flux=    Main
   |étape=   Exploration
   |type=    RBID
   |clé=     Pascal:12-0129822
   |texte=   Hydrops fetalis and pulmonary lymphangiectasia due to FOXC2 mutation: an autosomal dominant hereditary lymphedema syndrome with variable expression
}}

This area was generated with Dilib version V0.6.31.
Data generation: Sat Nov 4 17:40:35 2017. Site generation: Tue Feb 13 16:42:16 2024

	Serveur d'exploration sur le lymphœdème
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.

Serveur d'exploration sur le lymphœdème

Hydrops fetalis and pulmonary lymphangiectasia due to FOXC2 mutation: an autosomal dominant hereditary lymphedema syndrome with variable expression

Hydrops fetalis and pulmonary lymphangiectasia due to FOXC2 mutation: an autosomal dominant hereditary lymphedema syndrome with variable expression

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri