LymphedemaV1, PubMed, Corpus, bibRecord, 001459

A Chinese pedigree of lymphoedema-distichiasis syndrome with a novel mutation in the FOXC2 gene.

Identifieur interne : 001459 ( PubMed/Corpus ); précédent : 001458; suivant : 001460

A Chinese pedigree of lymphoedema-distichiasis syndrome with a novel mutation in the FOXC2 gene.

Auteurs : L-L Zhu ; Y-N Lv ; H-D Chen ; X-H Gao

Source :

Clinical and experimental dermatology [ 1365-2230 ] ; 2014.

RBID : pubmed:24984567

English descriptors

KwdEn :
- Adolescent, Eyelashes (abnormalities), Forkhead Transcription Factors (genetics), Humans, Lymphedema (genetics), Male, Mutation, Missense, Pedigree.
MESH :
- chemical , genetics : Forkhead Transcription Factors.
- abnormalities : Eyelashes.
- genetics : Lymphedema.
- Adolescent, Humans, Male, Mutation, Missense, Pedigree.

Abstract

Lymphoedema-distichiasis syndrome (LDS) is a syndromic form of primary lymphoedema associated with double rows of eyelashes (distichiasis). Mutations in the FOXC2 gene were reported to be associated with this syndrome. In this study, we identified in a Chinese LDS pedigree a novel FOXC2 gene mutation, C.370C>T, leading to p.Leu124Phe. The novel mutation is not a common polymorphism, but is co-inherited with the disease.

DOI: 10.1111/ced.12389
PubMed: 24984567

Links to Exploration step

pubmed:24984567

Le document en format XML

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<author><name sortKey="Zhu, L L" sort="Zhu, L L" uniqKey="Zhu L" first="L-L" last="Zhu">L-L Zhu</name>
<affiliation><nlm:affiliation>Department of Dermatology, No.1 Hospital of China Medical University, China; Department of Dermatology, The People's Hospital of Liaoning Province, China.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Lv, Y N" sort="Lv, Y N" uniqKey="Lv Y" first="Y-N" last="Lv">Y-N Lv</name>
</author>
<author><name sortKey="Chen, H D" sort="Chen, H D" uniqKey="Chen H" first="H-D" last="Chen">H-D Chen</name>
</author>
<author><name sortKey="Gao, X H" sort="Gao, X H" uniqKey="Gao X" first="X-H" last="Gao">X-H Gao</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">A Chinese pedigree of lymphoedema-distichiasis syndrome with a novel mutation in the FOXC2 gene.</title>
<author><name sortKey="Zhu, L L" sort="Zhu, L L" uniqKey="Zhu L" first="L-L" last="Zhu">L-L Zhu</name>
<affiliation><nlm:affiliation>Department of Dermatology, No.1 Hospital of China Medical University, China; Department of Dermatology, The People's Hospital of Liaoning Province, China.</nlm:affiliation>
</affiliation>
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<author><name sortKey="Lv, Y N" sort="Lv, Y N" uniqKey="Lv Y" first="Y-N" last="Lv">Y-N Lv</name>
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<author><name sortKey="Chen, H D" sort="Chen, H D" uniqKey="Chen H" first="H-D" last="Chen">H-D Chen</name>
</author>
<author><name sortKey="Gao, X H" sort="Gao, X H" uniqKey="Gao X" first="X-H" last="Gao">X-H Gao</name>
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<series><title level="j">Clinical and experimental dermatology</title>
<idno type="eISSN">1365-2230</idno>
<imprint><date when="2014" type="published">2014</date>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Eyelashes (abnormalities)</term>
<term>Forkhead Transcription Factors (genetics)</term>
<term>Humans</term>
<term>Lymphedema (genetics)</term>
<term>Male</term>
<term>Mutation, Missense</term>
<term>Pedigree</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Forkhead Transcription Factors</term>
</keywords>
<keywords scheme="MESH" qualifier="abnormalities" xml:lang="en"><term>Eyelashes</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Lymphedema</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Humans</term>
<term>Male</term>
<term>Mutation, Missense</term>
<term>Pedigree</term>
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<front><div type="abstract" xml:lang="en">Lymphoedema-distichiasis syndrome (LDS) is a syndromic form of primary lymphoedema associated with double rows of eyelashes (distichiasis). Mutations in the FOXC2 gene were reported to be associated with this syndrome. In this study, we identified in a Chinese LDS pedigree a novel FOXC2 gene mutation, C.370C>T, leading to p.Leu124Phe. The novel mutation is not a common polymorphism, but is co-inherited with the disease.</div>
</front>
</TEI>
<pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">24984567</PMID>
<DateCreated><Year>2014</Year>
<Month>07</Month>
<Day>21</Day>
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<DateCompleted><Year>2015</Year>
<Month>03</Month>
<Day>05</Day>
</DateCompleted>
<DateRevised><Year>2014</Year>
<Month>07</Month>
<Day>21</Day>
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<Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1365-2230</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>39</Volume>
<Issue>6</Issue>
<PubDate><Year>2014</Year>
<Month>Aug</Month>
</PubDate>
</JournalIssue>
<Title>Clinical and experimental dermatology</Title>
<ISOAbbreviation>Clin. Exp. Dermatol.</ISOAbbreviation>
</Journal>
<ArticleTitle>A Chinese pedigree of lymphoedema-distichiasis syndrome with a novel mutation in the FOXC2 gene.</ArticleTitle>
<Pagination><MedlinePgn>731-3</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1111/ced.12389</ELocationID>
<Abstract><AbstractText>Lymphoedema-distichiasis syndrome (LDS) is a syndromic form of primary lymphoedema associated with double rows of eyelashes (distichiasis). Mutations in the FOXC2 gene were reported to be associated with this syndrome. In this study, we identified in a Chinese LDS pedigree a novel FOXC2 gene mutation, C.370C>T, leading to p.Leu124Phe. The novel mutation is not a common polymorphism, but is co-inherited with the disease.</AbstractText>
<CopyrightInformation>© 2014 British Association of Dermatologists.</CopyrightInformation>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Zhu</LastName>
<ForeName>L-L</ForeName>
<Initials>LL</Initials>
<AffiliationInfo><Affiliation>Department of Dermatology, No.1 Hospital of China Medical University, China; Department of Dermatology, The People's Hospital of Liaoning Province, China.</Affiliation>
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<Author ValidYN="Y"><LastName>Lv</LastName>
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<Author ValidYN="Y"><LastName>Chen</LastName>
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<Author ValidYN="Y"><LastName>Gao</LastName>
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<Language>eng</Language>
<PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType>
<PublicationType UI="D016428">Journal Article</PublicationType>
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<ArticleDate DateType="Electronic"><Year>2014</Year>
<Month>07</Month>
<Day>01</Day>
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<MedlineJournalInfo><Country>England</Country>
<MedlineTA>Clin Exp Dermatol</MedlineTA>
<NlmUniqueID>7606847</NlmUniqueID>
<ISSNLinking>0307-6938</ISSNLinking>
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<ChemicalList><Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D051858">Forkhead Transcription Factors</NameOfSubstance>
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<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="C082078">mesenchyme fork head 1 protein</NameOfSubstance>
</Chemical>
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<SupplMeshList><SupplMeshName Type="Disease" UI="C537710">Lymphedema distichiasis syndrome</SupplMeshName>
</SupplMeshList>
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<MeshHeadingList><MeshHeading><DescriptorName UI="D000293" MajorTopicYN="N">Adolescent</DescriptorName>
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<MeshHeading><DescriptorName UI="D005140" MajorTopicYN="N">Eyelashes</DescriptorName>
<QualifierName UI="Q000002" MajorTopicYN="Y">abnormalities</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D051858" MajorTopicYN="N">Forkhead Transcription Factors</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
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<MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName>
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<MeshHeading><DescriptorName UI="D008209" MajorTopicYN="N">Lymphedema</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D020125" MajorTopicYN="Y">Mutation, Missense</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D010375" MajorTopicYN="N">Pedigree</DescriptorName>
</MeshHeading>
</MeshHeadingList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="accepted"><Year>2014</Year>
<Month>02</Month>
<Day>16</Day>
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<PubMedPubDate PubStatus="entrez"><Year>2014</Year>
<Month>7</Month>
<Day>3</Day>
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<PubMedPubDate PubStatus="medline"><Year>2015</Year>
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</History>
<PublicationStatus>ppublish</PublicationStatus>
<ArticleIdList><ArticleId IdType="pubmed">24984567</ArticleId>
<ArticleId IdType="doi">10.1111/ced.12389</ArticleId>
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A Chinese pedigree of lymphoedema-distichiasis syndrome with a novel mutation in the FOXC2 gene.

A Chinese pedigree of lymphoedema-distichiasis syndrome with a novel mutation in the FOXC2 gene.

Source :

English descriptors

Abstract

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki