LymphedemaV1, PascalFrancis, Corpus, bibRecord, 000110

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

Identifieur interne : 000110 ( PascalFrancis/Corpus ); précédent : 000109; suivant : 000111

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

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

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.

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.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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C01	`01`		`ENG`	@0 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.
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Format Inist (serveur)

NO :	PASCAL 12-0129822 INIST
ET :	Hydrops fetalis and pulmonary lymphangiectasia due to FOXC2 mutation: an autosomal dominant hereditary lymphedema syndrome with variable expression
AU :	DE BRUYN (Gwendolyn); CASAER (Alexandra); DEVOLDER (Katrien); ACKER (Geert Van); LOGGHE (Hilde); DEVRIENDT (Koen); CORNETTE (Luc)
AF :	University Hospital of Leuven, Herestraat 49/3000 Leuven/Belgique (1 aut., 6 aut.); AZ Sint Jan Brugge-Oostende AV, Ruddershove 10/8000 Brugge/Belgique (2 aut., 7 aut.); St Andries Hospital, Krommewalstraat 9/8700 Tielt/Belgique (3 aut., 4 aut.); AZ Sint Lucas Brugge, Ruddershove 10/8000 Brugge/Belgique (5 aut.)
DT :	Publication en série; Niveau analytique
SO :	European journal of pediatrics; ISSN 0340-6199; Coden EJPEDT; Allemagne; Da. 2012; Vol. 171; No. 3; Pp. 447-450; Bibl. 8 ref.
LA :	Anglais
EA :	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.
CC :	002B01; 002B20F02; 002B12B04
FD :	Anasarque foetoplacentaire; Poumon; Mutation; Lymphangiectasie; Génétique; Hérédité; Maladie héréditaire; Caractère autosomique; Héréditaire; Lymphoedème; Syndrome; Expression génique; Pédiatrie
FG :	Pathologie du foetus; Pathologie de la gestation; Appareil respiratoire; Pathologie de l'appareil circulatoire; Pathologie des vaisseaux lymphatiques
ED :	Hydrops fetalis; Lung; Mutation; Lymphangiectasis; Genetics; Inheritance(genetics); Genetic disease; Autosomal character; Hereditary; Lymphedema; Syndrome; Gene expression; Pediatrics
EG :	Fetal diseases; Pregnancy disorders; Respiratory system; Cardiovascular disease; Lymphatic vessel disease
SD :	Anasarca fetoplacentaria; Pulmón; Mutación; Linfangiectasia; Genética; Herencia(genética); Enfermedad hereditaria; Carácter autosómico; Hereditario; Linfedema; Síndrome; Expresión genética; Pediatría
LO :	INIST-5343.354000508464360060
ID :	12-0129822

Links to Exploration step

Pascal:12-0129822

Le document en format XML

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<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>
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</fA11>
<fA11 i1="05" i2="1"><s1>LOGGHE (Hilde)</s1>
</fA11>
<fA11 i1="06" i2="1"><s1>DEVRIENDT (Koen)</s1>
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<fA11 i1="07" i2="1"><s1>CORNETTE (Luc)</s1>
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<fA14 i1="01"><s1>University Hospital of Leuven, Herestraat 49</s1>
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<sZ>6 aut.</sZ>
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<sZ>4 aut.</sZ>
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<fA14 i1="04"><s1>AZ Sint Lucas Brugge, Ruddershove 10</s1>
<s2>8000 Brugge</s2>
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<fA23 i1="01"><s0>ENG</s0>
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<fA66 i1="01"><s0>DEU</s0>
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<fC01 i1="01" l="ENG"><s0>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.</s0>
</fC01>
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</fC02>
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</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Anasarque foetoplacentaire</s0>
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<s5>11</s5>
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<s5>11</s5>
</fC03>
<fC03 i1="11" i2="X" l="SPA"><s0>Síndrome</s0>
<s5>11</s5>
</fC03>
<fC03 i1="12" i2="X" l="FRE"><s0>Expression génique</s0>
<s5>12</s5>
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<s5>12</s5>
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<s5>38</s5>
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<s5>41</s5>
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<fC07 i1="05" i2="X" l="ENG"><s0>Lymphatic vessel disease</s0>
<s5>41</s5>
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<fC07 i1="05" i2="X" l="SPA"><s0>Linfático patología</s0>
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<fN21><s1>100</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
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<server><NO>PASCAL 12-0129822 INIST</NO>
<ET>Hydrops fetalis and pulmonary lymphangiectasia due to FOXC2 mutation: an autosomal dominant hereditary lymphedema syndrome with variable expression</ET>
<AU>DE BRUYN (Gwendolyn); CASAER (Alexandra); DEVOLDER (Katrien); ACKER (Geert Van); LOGGHE (Hilde); DEVRIENDT (Koen); CORNETTE (Luc)</AU>
<AF>University Hospital of Leuven, Herestraat 49/3000 Leuven/Belgique (1 aut., 6 aut.); AZ Sint Jan Brugge-Oostende AV, Ruddershove 10/8000 Brugge/Belgique (2 aut., 7 aut.); St Andries Hospital, Krommewalstraat 9/8700 Tielt/Belgique (3 aut., 4 aut.); AZ Sint Lucas Brugge, Ruddershove 10/8000 Brugge/Belgique (5 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>European journal of pediatrics; ISSN 0340-6199; Coden EJPEDT; Allemagne; Da. 2012; Vol. 171; No. 3; Pp. 447-450; Bibl. 8 ref.</SO>
<LA>Anglais</LA>
<EA>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.</EA>
<CC>002B01; 002B20F02; 002B12B04</CC>
<FD>Anasarque foetoplacentaire; Poumon; Mutation; Lymphangiectasie; Génétique; Hérédité; Maladie héréditaire; Caractère autosomique; Héréditaire; Lymphoedème; Syndrome; Expression génique; Pédiatrie</FD>
<FG>Pathologie du foetus; Pathologie de la gestation; Appareil respiratoire; Pathologie de l'appareil circulatoire; Pathologie des vaisseaux lymphatiques</FG>
<ED>Hydrops fetalis; Lung; Mutation; Lymphangiectasis; Genetics; Inheritance(genetics); Genetic disease; Autosomal character; Hereditary; Lymphedema; Syndrome; Gene expression; Pediatrics</ED>
<EG>Fetal diseases; Pregnancy disorders; Respiratory system; Cardiovascular disease; Lymphatic vessel disease</EG>
<SD>Anasarca fetoplacentaria; Pulmón; Mutación; Linfangiectasia; Genética; Herencia(genética); Enfermedad hereditaria; Carácter autosómico; Hereditario; Linfedema; Síndrome; Expresión genética; Pediatría</SD>
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<ID>12-0129822</ID>
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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

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