LymphedemaV1, Main, Exploration, bibRecord, 008626

Lymphoedema-distichiasis and FOXC2 : unreported mutations, de novo mutation estimate, families without coding mutations

Identifieur interne : 008626 ( Main/Exploration ); précédent : 008625; suivant : 008627

Lymphoedema-distichiasis and FOXC2 : unreported mutations, de novo mutation estimate, families without coding mutations

Auteurs : Carolyn Sholto-Douglas-Vernon [Royaume-Uni] ; Rachel Bell [Royaume-Uni] ; Glen Brice [Royaume-Uni] ; Sahar Mansour [Royaume-Uni] ; Mansoor Sarfarazi [États-Unis] ; Anne H. Child [Royaume-Uni] ; Alberto Smith [Royaume-Uni] ; Russell Mellor [Royaume-Uni] ; Kevin Burnand [Royaume-Uni] ; Peter Mortimer (dermatologue)‎ [Royaume-Uni] ; Steve Jeffery [Royaume-Uni]

Source :

Human genetics [ 0340-6717 ] ; 2005.

RBID : Pascal:05-0307460

Descripteurs français

KwdFr :
- Cadres ouverts de lecture (génétique), Données de séquences moléculaires, Délétion de séquence (génétique), Facteurs de transcription (génétique), Facteurs de transcription Forkhead, Famille, Femelle, Fréquence d'allèle, Humains, Liaison génétique, Lymphoedème (génétique), Mâle, Pedigree, Protéines de liaison à l'ADN (génétique), Royaume-Uni, Séquence d'acides aminés.
MESH :
- génétique : Cadres ouverts de lecture, Délétion de séquence, Facteurs de transcription, Lymphoedème, Protéines de liaison à l'ADN.
Pascal (Inist)
- Données de séquences moléculaires, Facteurs de transcription Forkhead, Famille, Femelle, Fréquence d'allèle, Humains, Liaison génétique, Mutation, De novo, Génétique, Lymphoedème, Distichiasis, Mâle, Pedigree, Royaume-Uni, Séquence d'acides aminés.
Wicri :
- topic : Génétique.

English descriptors

KwdEn :
- Amino Acid Sequence, DNA-Binding Proteins (genetics), De novo, Distichiasis, Family, Female, Forkhead Transcription Factors, Gene Frequency, Genetic Linkage, Genetics, Humans, Lymphedema, Lymphedema (genetics), Male, Molecular Sequence Data, Mutation, Open Reading Frames (genetics), Pedigree, Sequence Deletion (genetics), Transcription Factors (genetics), United Kingdom.
MESH :
- chemical , genetics : DNA-Binding Proteins, Transcription Factors.
- genetics : Lymphedema, Open Reading Frames, Sequence Deletion.
- Amino Acid Sequence, Family, Female, Forkhead Transcription Factors, Gene Frequency, Genetic Linkage, Humans, Male, Molecular Sequence Data, Pedigree, United Kingdom.

Abstract

Lymphoedema-distichiasis (LD) is a syndromic form of primary lymphoedema, where mutations in the gene for the developmental transcription factor FOXC2 have been shown to be causative. The disorder has been considered very rare, but our group has now ascertained 34 families and 11 sporadic cases in the UK. Two families with LD have no mutation in the coding region of FOXC2, although both are consistent with linkage to the FOXC2 locus. A deletion has been ruled out as a possible cause of LD in these families, leaving promoter mutations as the most likely cause. Sixteen previously unpublished mutations are reported, plus an estimate of the frequency of new mutations in this disorder.

Affiliations:

Le document en format XML

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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Amino Acid Sequence</term>
<term>DNA-Binding Proteins (genetics)</term>
<term>De novo</term>
<term>Distichiasis</term>
<term>Family</term>
<term>Female</term>
<term>Forkhead Transcription Factors</term>
<term>Gene Frequency</term>
<term>Genetic Linkage</term>
<term>Genetics</term>
<term>Humans</term>
<term>Lymphedema</term>
<term>Lymphedema (genetics)</term>
<term>Male</term>
<term>Molecular Sequence Data</term>
<term>Mutation</term>
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<term>Pedigree</term>
<term>Sequence Deletion (genetics)</term>
<term>Transcription Factors (genetics)</term>
<term>United Kingdom</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Cadres ouverts de lecture (génétique)</term>
<term>Données de séquences moléculaires</term>
<term>Délétion de séquence (génétique)</term>
<term>Facteurs de transcription (génétique)</term>
<term>Facteurs de transcription Forkhead</term>
<term>Famille</term>
<term>Femelle</term>
<term>Fréquence d'allèle</term>
<term>Humains</term>
<term>Liaison génétique</term>
<term>Lymphoedème (génétique)</term>
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<term>Pedigree</term>
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<term>Genetic Linkage</term>
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<term>Facteurs de transcription Forkhead</term>
<term>Famille</term>
<term>Femelle</term>
<term>Fréquence d'allèle</term>
<term>Humains</term>
<term>Liaison génétique</term>
<term>Mutation</term>
<term>De novo</term>
<term>Génétique</term>
<term>Lymphoedème</term>
<term>Distichiasis</term>
<term>Mâle</term>
<term>Pedigree</term>
<term>Royaume-Uni</term>
<term>Séquence d'acides aminés</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Lymphoedema-distichiasis (LD) is a syndromic form of primary lymphoedema, where mutations in the gene for the developmental transcription factor FOXC2 have been shown to be causative. The disorder has been considered very rare, but our group has now ascertained 34 families and 11 sporadic cases in the UK. Two families with LD have no mutation in the coding region of FOXC2, although both are consistent with linkage to the FOXC2 locus. A deletion has been ruled out as a possible cause of LD in these families, leaving promoter mutations as the most likely cause. Sixteen previously unpublished mutations are reported, plus an estimate of the frequency of new mutations in this disorder.</div>
</front>
</TEI>
<affiliations><list><country><li>Royaume-Uni</li>
<li>États-Unis</li>
</country>
<region><li>Angleterre</li>
<li>Connecticut</li>
<li>Grand Londres</li>
</region>
<settlement><li>Londres</li>
</settlement>
<orgName><li>Université de Londres</li>
</orgName>
</list>
<tree><country name="Royaume-Uni"><noRegion><name sortKey="Sholto Douglas Vernon, Carolyn" sort="Sholto Douglas Vernon, Carolyn" uniqKey="Sholto Douglas Vernon C" first="Carolyn" last="Sholto-Douglas-Vernon">Carolyn Sholto-Douglas-Vernon</name>
</noRegion>
<name sortKey="Bell, Rachel" sort="Bell, Rachel" uniqKey="Bell R" first="Rachel" last="Bell">Rachel Bell</name>
<name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name>
<name sortKey="Burnand, Kevin" sort="Burnand, Kevin" uniqKey="Burnand K" first="Kevin" last="Burnand">Kevin Burnand</name>
<name sortKey="Child, Anne H" sort="Child, Anne H" uniqKey="Child A" first="Anne H." last="Child">Anne H. Child</name>
<name sortKey="Jeffery, Steve" sort="Jeffery, Steve" uniqKey="Jeffery S" first="Steve" last="Jeffery">Steve Jeffery</name>
<name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name>
<name sortKey="Mellor, Russell" sort="Mellor, Russell" uniqKey="Mellor R" first="Russell" last="Mellor">Russell Mellor</name>
<name sortKey="Mortimer, Peter" sort="Mortimer, Peter" uniqKey="Mortimer P" first="Peter" last="Mortimer">Peter Mortimer (dermatologue)‎</name>
<name sortKey="Smith, Alberto" sort="Smith, Alberto" uniqKey="Smith A" first="Alberto" last="Smith">Alberto Smith</name>
</country>
<country name="États-Unis"><region name="Connecticut"><name sortKey="Sarfarazi, Mansoor" sort="Sarfarazi, Mansoor" uniqKey="Sarfarazi M" first="Mansoor" last="Sarfarazi">Mansoor Sarfarazi</name>
</region>
</country>
</tree>
</affiliations>
</record>

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Lymphoedema-distichiasis and FOXC2 : unreported mutations, de novo mutation estimate, families without coding mutations

Lymphoedema-distichiasis and FOXC2 : unreported mutations, de novo mutation estimate, families without coding mutations

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