LymphedemaV1, Ncbi, Merge, bibRecord, 000A31

Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24

Identifieur interne : 000A31 ( Ncbi/Merge ); précédent : 000A30; suivant : 000A32

Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24

Auteurs : G. Brice ; S. Mansour ; R. Bell ; J. Collin ; A. Child ; A. Brady ; M. Sarfarazi ; K. Burnand ; S. Jeffery ; Peter Mortimer (dermatologue)‎ [Royaume-Uni] ; V. Murday

Source :

Journal of Medical Genetics [ 0022-2593 ] ; 2002.

RBID : PMC:1735188

Descripteurs français

KwdFr :
- Adolescent, Adulte, Chromosomes humains de la paire 16 (génétique), Cils (imagerie diagnostique), Cils (malformations), Enfant, Enfant d'âge préscolaire, Facteurs de transcription (génétique), Facteurs de transcription Forkhead, Femelle, Humains, Liaison génétique (génétique), Lymphoedème (génétique), Lymphoedème (imagerie diagnostique), Lymphographie (), Malformations multiples (génétique), Malformations multiples (imagerie diagnostique), Mâle, Nourrisson, Phénotype, Protéines de liaison à l'ADN (génétique), Puberté (génétique), Scintigraphie, Syndrome.
MESH :
- génétique : Chromosomes humains de la paire 16, Facteurs de transcription, Liaison génétique, Lymphoedème, Malformations multiples, Protéines de liaison à l'ADN, Puberté.
- imagerie diagnostique : Cils, Lymphoedème, Malformations multiples.
- malformations : Cils.
- Adolescent, Adulte, Enfant, Enfant d'âge préscolaire, Facteurs de transcription Forkhead, Femelle, Humains, Lymphographie, Mâle, Nourrisson, Phénotype, Scintigraphie, Syndrome.

English descriptors

KwdEn :
- Abnormalities, Multiple (diagnostic imaging), Abnormalities, Multiple (genetics), Adolescent, Adult, Child, Child, Preschool, Chromosomes, Human, Pair 16 (genetics), DNA-Binding Proteins (genetics), Eyelashes (abnormalities), Eyelashes (diagnostic imaging), Female, Forkhead Transcription Factors, Genetic Linkage (genetics), Humans, Infant, Lymphedema (diagnostic imaging), Lymphedema (genetics), Lymphography (methods), Male, Phenotype, Puberty (genetics), Radionuclide Imaging, Syndrome, Transcription Factors (genetics).
MESH :
- chemical , genetics : DNA-Binding Proteins, Transcription Factors.
- abnormalities : Eyelashes.
- diagnostic imaging : Abnormalities, Multiple, Eyelashes, Lymphedema.
- genetics : Abnormalities, Multiple, Chromosomes, Human, Pair 16, Genetic Linkage, Lymphedema, Puberty.
- methods : Lymphography.
- Adolescent, Adult, Child, Child, Preschool, Female, Forkhead Transcription Factors, Humans, Infant, Male, Phenotype, Radionuclide Imaging, Syndrome.

Abstract

Introduction: Lymphoedema-distichiasis syndrome (LD) (OMIM 153400) is a rare, primary lymphoedema of pubertal onset, associated with distichiasis. Causative mutations have now been described in FOXC2, a forkhead transcription factor gene. Numerous clinical associations have been reported with this condition, including congenital heart disease, ptosis, varicose veins, cleft palate, and spinal extradural cysts.

Subjects: We report clinical findings in 74 affected subjects from 18 families and six isolated cases. All of them were shown to have mutations in FOXC2 with the exception of one family who had two affected subjects with lymphoedema and distichiasis and linkage consistent with the 16q24 locus.

Results: The presence of lymphoedema was highly penetrant. Males had an earlier onset of lymphoedema and a significantly increased risk of complications. Lymphatic imaging confirmed the earlier suggestion that LD is associated with a normal or increased number of lymphatic vessels rather than the hypoplasia or aplasia seen in other forms of primary lymphoedema. Distichiasis was 94.2% penetrant, but not always symptomatic. Associated findings included ptosis (31%), congenital heart disease (6.8%), and cleft palate (4%). Other than distichiasis, the most commonly occurring anomaly was varicose veins of early onset (49%). This has not been previously reported and suggests a possible developmental role for FOXC2 in both venous and lymphatic systems. This is the first gene that has been implicated in the aetiology of varicose veins.

Conclusion: Unlike previous publications, the thorough clinical characterisation of our patients permits more accurate prediction of various phenotypic abnormalities likely to manifest in subjects with FOXC2 mutations.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1735188

DOI: 10.1136/jmg.39.7.478
PubMed: 12114478
PubMed Central: 1735188

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Links to Exploration step

PMC:1735188

Le document en format XML

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<term>Adolescent</term>
<term>Adult</term>
<term>Child</term>
<term>Child, Preschool</term>
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<term>DNA-Binding Proteins (genetics)</term>
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<term>Eyelashes (diagnostic imaging)</term>
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<term>Lymphoedème</term>
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<front><div type="abstract" xml:lang="en"><p><bold>Introduction:</bold>
 Lymphoedema-distichiasis syndrome (LD) (OMIM 153400) is a rare, primary lymphoedema of pubertal onset, associated with distichiasis. Causative mutations have now been described in <italic>FOXC2</italic>
, a forkhead transcription factor gene. Numerous clinical associations have been reported with this condition, including congenital heart disease, ptosis, varicose veins, cleft palate, and spinal extradural cysts. </p>
<p><bold>Subjects:</bold>
 We report clinical findings in 74 affected subjects from 18 families and six isolated cases. All of them were shown to have mutations in <italic>FOXC2</italic>
 with the exception of one family who had two affected subjects with lymphoedema and distichiasis and linkage consistent with the 16q24 locus. </p>
<p><bold>Results:</bold>
 The presence of lymphoedema was highly penetrant. Males had an earlier onset of lymphoedema and a significantly increased risk of complications. Lymphatic imaging confirmed the earlier suggestion that LD is associated with a normal or increased number of lymphatic vessels rather than the hypoplasia or aplasia seen in other forms of primary lymphoedema. Distichiasis was 94.2% penetrant, but not always symptomatic. Associated findings included ptosis (31%), congenital heart disease (6.8%), and cleft palate (4%). Other than distichiasis, the most commonly occurring anomaly was varicose veins of early onset (49%). This has not been previously reported and suggests a possible developmental role for <italic>FOXC2</italic>
 in both venous and lymphatic systems. This is the first gene that has been implicated in the aetiology of varicose veins. </p>
<p><bold>Conclusion:</bold>
 Unlike previous publications, the thorough clinical characterisation of our patients permits more accurate prediction of various phenotypic abnormalities likely to manifest in subjects with <italic>FOXC2</italic>
 mutations. </p>
</div>
</front>
</TEI>
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 mutations or linkage to 16q24</title>
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 mutations or linkage to 16q24</title>
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<front><div type="abstract" xml:lang="en"><p><bold>Introduction:</bold>
 Lymphoedema-distichiasis syndrome (LD) (OMIM 153400) is a rare, primary lymphoedema of pubertal onset, associated with distichiasis. Causative mutations have now been described in <italic>FOXC2</italic>
, a forkhead transcription factor gene. Numerous clinical associations have been reported with this condition, including congenital heart disease, ptosis, varicose veins, cleft palate, and spinal extradural cysts. </p>
<p><bold>Subjects:</bold>
 We report clinical findings in 74 affected subjects from 18 families and six isolated cases. All of them were shown to have mutations in <italic>FOXC2</italic>
 with the exception of one family who had two affected subjects with lymphoedema and distichiasis and linkage consistent with the 16q24 locus. </p>
<p><bold>Results:</bold>
 The presence of lymphoedema was highly penetrant. Males had an earlier onset of lymphoedema and a significantly increased risk of complications. Lymphatic imaging confirmed the earlier suggestion that LD is associated with a normal or increased number of lymphatic vessels rather than the hypoplasia or aplasia seen in other forms of primary lymphoedema. Distichiasis was 94.2% penetrant, but not always symptomatic. Associated findings included ptosis (31%), congenital heart disease (6.8%), and cleft palate (4%). Other than distichiasis, the most commonly occurring anomaly was varicose veins of early onset (49%). This has not been previously reported and suggests a possible developmental role for <italic>FOXC2</italic>
 in both venous and lymphatic systems. This is the first gene that has been implicated in the aetiology of varicose veins. </p>
<p><bold>Conclusion:</bold>
 Unlike previous publications, the thorough clinical characterisation of our patients permits more accurate prediction of various phenotypic abnormalities likely to manifest in subjects with <italic>FOXC2</italic>
 mutations. </p>
</div>
</front>
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<pubmed><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24.</title>
<author><name sortKey="Brice, G" sort="Brice, G" uniqKey="Brice G" first="G" last="Brice">G. Brice</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Cardiological Sciences, St George's Medical School, Cranmer Terrace, Tooting, London SW17 0RE, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Cardiological Sciences, St George's Medical School, Cranmer Terrace, Tooting, London SW17 0RE</wicri:regionArea>
<wicri:noRegion>London SW17 0RE</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mansour, S" sort="Mansour, S" uniqKey="Mansour S" first="S" last="Mansour">S. Mansour</name>
</author>
<author><name sortKey="Bell, R" sort="Bell, R" uniqKey="Bell R" first="R" last="Bell">R. Bell</name>
</author>
<author><name sortKey="Collin, J R O" sort="Collin, J R O" uniqKey="Collin J" first="J R O" last="Collin">J R O. Collin</name>
</author>
<author><name sortKey="Child, A H" sort="Child, A H" uniqKey="Child A" first="A H" last="Child">A H Child</name>
</author>
<author><name sortKey="Brady, A F" sort="Brady, A F" uniqKey="Brady A" first="A F" last="Brady">A F Brady</name>
</author>
<author><name sortKey="Sarfarazi, M" sort="Sarfarazi, M" uniqKey="Sarfarazi M" first="M" last="Sarfarazi">M. Sarfarazi</name>
</author>
<author><name sortKey="Burnand, K G" sort="Burnand, K G" uniqKey="Burnand K" first="K G" last="Burnand">K G Burnand</name>
</author>
<author><name sortKey="Jeffery, S" sort="Jeffery, S" uniqKey="Jeffery S" first="S" last="Jeffery">S. Jeffery</name>
</author>
<author><name sortKey="Mortimer, P" sort="Mortimer, P" uniqKey="Mortimer P" first="P" last="Mortimer">Peter Mortimer (dermatologue)‎</name>
<affiliation><country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
<orgName type="university">Université de Londres</orgName>
</affiliation>
</author>
<author><name sortKey="Murday, V A" sort="Murday, V A" uniqKey="Murday V" first="V A" last="Murday">V A Murday</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2002">2002</date>
<idno type="RBID">pubmed:12114478</idno>
<idno type="pmid">12114478</idno>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24.</title>
<author><name sortKey="Brice, G" sort="Brice, G" uniqKey="Brice G" first="G" last="Brice">G. Brice</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Cardiological Sciences, St George's Medical School, Cranmer Terrace, Tooting, London SW17 0RE, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Cardiological Sciences, St George's Medical School, Cranmer Terrace, Tooting, London SW17 0RE</wicri:regionArea>
<wicri:noRegion>London SW17 0RE</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mansour, S" sort="Mansour, S" uniqKey="Mansour S" first="S" last="Mansour">S. Mansour</name>
</author>
<author><name sortKey="Bell, R" sort="Bell, R" uniqKey="Bell R" first="R" last="Bell">R. Bell</name>
</author>
<author><name sortKey="Collin, J R O" sort="Collin, J R O" uniqKey="Collin J" first="J R O" last="Collin">J R O. Collin</name>
</author>
<author><name sortKey="Child, A H" sort="Child, A H" uniqKey="Child A" first="A H" last="Child">A H Child</name>
</author>
<author><name sortKey="Brady, A F" sort="Brady, A F" uniqKey="Brady A" first="A F" last="Brady">A F Brady</name>
</author>
<author><name sortKey="Sarfarazi, M" sort="Sarfarazi, M" uniqKey="Sarfarazi M" first="M" last="Sarfarazi">M. Sarfarazi</name>
</author>
<author><name sortKey="Burnand, K G" sort="Burnand, K G" uniqKey="Burnand K" first="K G" last="Burnand">K G Burnand</name>
</author>
<author><name sortKey="Jeffery, S" sort="Jeffery, S" uniqKey="Jeffery S" first="S" last="Jeffery">S. Jeffery</name>
</author>
<author><name sortKey="Mortimer, P" sort="Mortimer, P" uniqKey="Mortimer P" first="P" last="Mortimer">Peter Mortimer (dermatologue)‎</name>
<affiliation><country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
<orgName type="university">Université de Londres</orgName>
</affiliation>
</author>
<author><name sortKey="Murday, V A" sort="Murday, V A" uniqKey="Murday V" first="V A" last="Murday">V A Murday</name>
</author>
</analytic>
<series><title level="j">Journal of medical genetics</title>
<idno type="eISSN">1468-6244</idno>
<imprint><date when="2002" type="published">2002</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Abnormalities, Multiple (diagnostic imaging)</term>
<term>Abnormalities, Multiple (genetics)</term>
<term>Adolescent</term>
<term>Adult</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Chromosomes, Human, Pair 16 (genetics)</term>
<term>DNA-Binding Proteins (genetics)</term>
<term>Eyelashes (abnormalities)</term>
<term>Eyelashes (diagnostic imaging)</term>
<term>Female</term>
<term>Forkhead Transcription Factors</term>
<term>Genetic Linkage (genetics)</term>
<term>Humans</term>
<term>Infant</term>
<term>Lymphedema (diagnostic imaging)</term>
<term>Lymphedema (genetics)</term>
<term>Lymphography (methods)</term>
<term>Male</term>
<term>Phenotype</term>
<term>Puberty (genetics)</term>
<term>Radionuclide Imaging</term>
<term>Syndrome</term>
<term>Transcription Factors (genetics)</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term>
<term>Adulte</term>
<term>Chromosomes humains de la paire 16 (génétique)</term>
<term>Cils (imagerie diagnostique)</term>
<term>Cils (malformations)</term>
<term>Enfant</term>
<term>Enfant d'âge préscolaire</term>
<term>Facteurs de transcription (génétique)</term>
<term>Facteurs de transcription Forkhead</term>
<term>Femelle</term>
<term>Humains</term>
<term>Liaison génétique (génétique)</term>
<term>Lymphoedème (génétique)</term>
<term>Lymphoedème (imagerie diagnostique)</term>
<term>Lymphographie ()</term>
<term>Malformations multiples (génétique)</term>
<term>Malformations multiples (imagerie diagnostique)</term>
<term>Mâle</term>
<term>Nourrisson</term>
<term>Phénotype</term>
<term>Protéines de liaison à l'ADN (génétique)</term>
<term>Puberté (génétique)</term>
<term>Scintigraphie</term>
<term>Syndrome</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA-Binding Proteins</term>
<term>Transcription Factors</term>
</keywords>
<keywords scheme="MESH" qualifier="abnormalities" xml:lang="en"><term>Eyelashes</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnostic imaging" xml:lang="en"><term>Abnormalities, Multiple</term>
<term>Eyelashes</term>
<term>Lymphedema</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Abnormalities, Multiple</term>
<term>Chromosomes, Human, Pair 16</term>
<term>Genetic Linkage</term>
<term>Lymphedema</term>
<term>Puberty</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Chromosomes humains de la paire 16</term>
<term>Facteurs de transcription</term>
<term>Liaison génétique</term>
<term>Lymphoedème</term>
<term>Malformations multiples</term>
<term>Protéines de liaison à l'ADN</term>
<term>Puberté</term>
</keywords>
<keywords scheme="MESH" qualifier="imagerie diagnostique" xml:lang="fr"><term>Cils</term>
<term>Lymphoedème</term>
<term>Malformations multiples</term>
</keywords>
<keywords scheme="MESH" qualifier="malformations" xml:lang="fr"><term>Cils</term>
</keywords>
<keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Lymphography</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Female</term>
<term>Forkhead Transcription Factors</term>
<term>Humans</term>
<term>Infant</term>
<term>Male</term>
<term>Phenotype</term>
<term>Radionuclide Imaging</term>
<term>Syndrome</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term>
<term>Adulte</term>
<term>Enfant</term>
<term>Enfant d'âge préscolaire</term>
<term>Facteurs de transcription Forkhead</term>
<term>Femelle</term>
<term>Humains</term>
<term>Lymphographie</term>
<term>Mâle</term>
<term>Nourrisson</term>
<term>Phénotype</term>
<term>Scintigraphie</term>
<term>Syndrome</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Lymphoedema-distichiasis syndrome (LD) (OMIM 153400) is a rare, primary lymphoedema of pubertal onset, associated with distichiasis. Causative mutations have now been described in FOXC2, a forkhead transcription factor gene. Numerous clinical associations have been reported with this condition, including congenital heart disease, ptosis, varicose veins, cleft palate, and spinal extradural cysts.</div>
</front>
</TEI>
</pubmed>
</double>
</record>

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Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24

Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24

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