LymphedemaV1, Main, Exploration, bibRecord, 00A112

Truncating mutations in FOXC2 cause multiple lymphedema syndromes

Identifieur interne : 00A112 ( Main/Exploration ); précédent : 00A111; suivant : 00A113

Truncating mutations in FOXC2 cause multiple lymphedema syndromes

Auteurs : David N. Finegold [États-Unis] ; Mark A. Kimak [États-Unis] ; Elizabeth C. Lawrence [États-Unis] ; Kara L. Levinson [États-Unis] ; Elizabeth M. Cherniske [États-Unis] ; Barbara R. Pober [États-Unis] ; Jean W. Dunlap [États-Unis] ; Robert E. Ferrell [États-Unis]

Source :

Human molecular genetics [ 0964-6906 ] ; 2001.

RBID : Pascal:01-0333984

Descripteurs français

KwdFr :
- Adolescent, Adulte, Adulte d'âge moyen, Amorces ADN (), Analyse de mutations d'ADN, Chromosomes humains de la paire 16 (génétique), Données de séquences moléculaires, Enfant, Facteurs de transcription (génétique), Facteurs de transcription Forkhead, Femelle, Fente palatine (génétique), Humains, Lymphoedème (génétique), Mutation (génétique), Mâle, Nouveau-né, Polymorphisme génétique, Protéines de liaison à l'ADN (génétique), Réaction de polymérisation en chaîne, Sujet âgé, Sujet âgé de 80 ans ou plus, Syndrome, Séquence nucléotidique.
MESH :
- génétique : Chromosomes humains de la paire 16, Facteurs de transcription, Fente palatine, Lymphoedème, Mutation, Protéines de liaison à l'ADN.
Pascal (Inist)
- Adolescent, Adulte, Adulte d'âge moyen, Amorces ADN, Analyse de mutations d'ADN, Données de séquences moléculaires, Enfant, Facteurs de transcription Forkhead, Femelle, Homme, Etude familiale, Humains, Mutation, Gène, Facteur transcription, Lymphoedème, Mâle, Nouveau-né, Polymorphisme génétique, Réaction de polymérisation en chaîne, Sujet âgé, Sujet âgé de 80 ans ou plus, Syndrome, Séquence nucléotidique.
Wicri :
- topic : Homme.

English descriptors

KwdEn :
- Adolescent, Adult, Aged, Aged, 80 and over, Base Sequence, Child, Chromosomes, Human, Pair 16 (genetics), Cleft Palate (genetics), DNA Mutational Analysis, DNA Primers (chemistry), DNA-Binding Proteins (genetics), Family study, Female, Forkhead Transcription Factors, Gene, Human, Humans, Infant, Newborn, Lymphedema, Lymphedema (genetics), Male, Middle Aged, Molecular Sequence Data, Mutation, Mutation (genetics), Polymerase Chain Reaction, Polymorphism, Genetic, Syndrome, Transcription Factors (genetics), Transcription factor.
MESH :
- chemical , chemistry : DNA Primers.
- genetics : Chromosomes, Human, Pair 16, Cleft Palate, DNA-Binding Proteins, Lymphedema, Mutation, Transcription Factors.
- Adolescent, Adult, Aged, Aged, 80 and over, Base Sequence, Child, DNA Mutational Analysis, Female, Forkhead Transcription Factors, Humans, Infant, Newborn, Male, Middle Aged, Molecular Sequence Data, Polymerase Chain Reaction, Polymorphism, Genetic, Syndrome.

Abstract

Hereditary lymphedemas are developmental disorders of the lymphatics resulting in edema of the extremities due to altered lymphatic flow. One such disorder, the lymphedema-distichiasis syndrome, has been reported to be caused by mutations in the forkhead transcription factor, FOXC2. We sequenced the FOXC2 gene in 86 lymphedema families to identify mutations. Eleven families were identified with mutations predicted to disrupt the DNA binding domain and/or C-terminal α-helices essential for transcription activation by FOXC2. Broad phenotypic heterogeneity was observed within these families. The phenotypes observed overlapped four phenotypically defined lymphedema syndromes. FOXC2 appears to be the primary cause of lymphedema-distichiasis syndrome and is also a cause of lymphedema in families displaying phenotypes attributed to other lymphedema syndromes. Our data demonstrates that the phenotypic classification of autosomal dominant lymphedema does not reflect the underlying genetic causation of these disorders.

Affiliations:

Le document en format XML

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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Aged</term>
<term>Aged, 80 and over</term>
<term>Base Sequence</term>
<term>Child</term>
<term>Chromosomes, Human, Pair 16 (genetics)</term>
<term>Cleft Palate (genetics)</term>
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<term>DNA Primers (chemistry)</term>
<term>DNA-Binding Proteins (genetics)</term>
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<term>Analyse de mutations d'ADN</term>
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<term>Données de séquences moléculaires</term>
<term>Enfant</term>
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<term>Nouveau-né</term>
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<term>Réaction de polymérisation en chaîne</term>
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<term>Facteurs de transcription</term>
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<term>Lymphoedème</term>
<term>Mutation</term>
<term>Protéines de liaison à l'ADN</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Aged</term>
<term>Aged, 80 and over</term>
<term>Base Sequence</term>
<term>Child</term>
<term>DNA Mutational Analysis</term>
<term>Female</term>
<term>Forkhead Transcription Factors</term>
<term>Humans</term>
<term>Infant, Newborn</term>
<term>Male</term>
<term>Middle Aged</term>
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<term>Polymerase Chain Reaction</term>
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<term>Syndrome</term>
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<term>Adulte</term>
<term>Adulte d'âge moyen</term>
<term>Amorces ADN</term>
<term>Analyse de mutations d'ADN</term>
<term>Données de séquences moléculaires</term>
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<term>Facteurs de transcription Forkhead</term>
<term>Femelle</term>
<term>Homme</term>
<term>Etude familiale</term>
<term>Humains</term>
<term>Mutation</term>
<term>Gène</term>
<term>Facteur transcription</term>
<term>Lymphoedème</term>
<term>Mâle</term>
<term>Nouveau-né</term>
<term>Polymorphisme génétique</term>
<term>Réaction de polymérisation en chaîne</term>
<term>Sujet âgé</term>
<term>Sujet âgé de 80 ans ou plus</term>
<term>Syndrome</term>
<term>Séquence nucléotidique</term>
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<front><div type="abstract" xml:lang="en">Hereditary lymphedemas are developmental disorders of the lymphatics resulting in edema of the extremities due to altered lymphatic flow. One such disorder, the lymphedema-distichiasis syndrome, has been reported to be caused by mutations in the forkhead transcription factor, FOXC2. We sequenced the FOXC2 gene in 86 lymphedema families to identify mutations. Eleven families were identified with mutations predicted to disrupt the DNA binding domain and/or C-terminal α-helices essential for transcription activation by FOXC2. Broad phenotypic heterogeneity was observed within these families. The phenotypes observed overlapped four phenotypically defined lymphedema syndromes. FOXC2 appears to be the primary cause of lymphedema-distichiasis syndrome and is also a cause of lymphedema in families displaying phenotypes attributed to other lymphedema syndromes. Our data demonstrates that the phenotypic classification of autosomal dominant lymphedema does not reflect the underlying genetic causation of these disorders.</div>
</front>
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<affiliations><list><country><li>États-Unis</li>
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<region><li>Connecticut</li>
<li>Pennsylvanie</li>
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<orgName><li>Université de Pittsburgh</li>
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<name sortKey="Finegold, David N" sort="Finegold, David N" uniqKey="Finegold D" first="David N." last="Finegold">David N. Finegold</name>
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<name sortKey="Levinson, Kara L" sort="Levinson, Kara L" uniqKey="Levinson K" first="Kara L." last="Levinson">Kara L. Levinson</name>
<name sortKey="Pober, Barbara R" sort="Pober, Barbara R" uniqKey="Pober B" first="Barbara R." last="Pober">Barbara R. Pober</name>
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   |wiki=    Wicri/Sante
   |area=    LymphedemaV1
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   |texte=   Truncating mutations in FOXC2 cause multiple lymphedema syndromes
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Serveur d'exploration sur le lymphœdème

Truncating mutations in FOXC2 cause multiple lymphedema syndromes

Truncating mutations in FOXC2 cause multiple lymphedema syndromes

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	Serveur d'exploration sur le lymphœdème
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