A Chinese pedigree of lymphoedema-distichiasis syndrome with a novel mutation in the FOXC2 gene.
Identifieur interne : 006810 ( Ncbi/Merge ); précédent : 006809; suivant : 006811A Chinese pedigree of lymphoedema-distichiasis syndrome with a novel mutation in the FOXC2 gene.
Auteurs : L-L Zhu [République populaire de Chine] ; Y-N Lv ; H-D Chen ; X-H GaoSource :
- Clinical and experimental dermatology [ 1365-2230 ] ; 2014.
Descripteurs français
- KwdFr :
- MESH :
- génétique : Facteurs de transcription Forkhead, Lymphoedème.
- malformations : Cils.
- Adolescent, Humains, Mutation faux-sens, Mâle, Pedigree.
English descriptors
- KwdEn :
- 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
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pubmed:24984567Le document en format XML
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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></DateCreated><DateCompleted><Year>2015</Year><Month>03</Month><Day>05</Day></DateCompleted><DateRevised><Year>2014</Year><Month>07</Month><Day>21</Day></DateRevised><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></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lv</LastName><ForeName>Y-N</ForeName><Initials>YN</Initials></Author><Author ValidYN="Y"><LastName>Chen</LastName><ForeName>H-D</ForeName><Initials>HD</Initials></Author><Author ValidYN="Y"><LastName>Gao</LastName><ForeName>X-H</ForeName><Initials>XH</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2014</Year><Month>07</Month><Day>01</Day></ArticleDate></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Clin Exp Dermatol</MedlineTA><NlmUniqueID>7606847</NlmUniqueID><ISSNLinking>0307-6938</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D051858">Forkhead Transcription Factors</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C082078">mesenchyme fork head 1 protein</NameOfSubstance></Chemical></ChemicalList><SupplMeshList><SupplMeshName Type="Disease" UI="C537710">Lymphedema distichiasis syndrome</SupplMeshName></SupplMeshList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000293" MajorTopicYN="N">Adolescent</DescriptorName></MeshHeading><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></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><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></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2014</Year><Month>7</Month><Day>3</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2014</Year><Month>7</Month><Day>6</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2015</Year><Month>3</Month><Day>7</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">24984567</ArticleId><ArticleId IdType="doi">10.1111/ced.12389</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>République populaire de Chine</li></country></list><tree><noCountry><name sortKey="Chen, H D" sort="Chen, H D" uniqKey="Chen H" first="H-D" last="Chen">H-D Chen</name><name sortKey="Gao, X H" sort="Gao, X H" uniqKey="Gao X" first="X-H" last="Gao">X-H Gao</name><name sortKey="Lv, Y N" sort="Lv, Y N" uniqKey="Lv Y" first="Y-N" last="Lv">Y-N Lv</name></noCountry><country name="République populaire de Chine"><noRegion><name sortKey="Zhu, L L" sort="Zhu, L L" uniqKey="Zhu L" first="L-L" last="Zhu">L-L Zhu</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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