c. 595-596 insC of FOXC2 underlies lymphedema, distichiasis, ptosis, ankyloglossia, and Robin sequence in a Thai patient.
Identifieur interne : 002618 ( PubMed/Checkpoint ); précédent : 002617; suivant : 002619c. 595-596 insC of FOXC2 underlies lymphedema, distichiasis, ptosis, ankyloglossia, and Robin sequence in a Thai patient.
Auteurs : Pranoot Tanpaiboon [Thaïlande] ; Piranit Kantaputra ; Karn Wejathikul ; Wirawit PiyamongkolSource :
- American journal of medical genetics. Part A [ 1552-4833 ] ; 2010.
Descripteurs français
- KwdFr :
- Analyse de mutations d'ADN, Blépharoptose (génétique), Cils (malformations), Enfant, Facteurs de transcription Forkhead (génétique), Frein de la langue (malformations), Gènes dominants, Humains, Lymphoedème (génétique), Lymphoedème (imagerie diagnostique), Malformations multiples (génétique), Mutagenèse par insertion, Mutation avec décalage du cadre de lecture, Mâle, Radiographie, Syndrome, Syndrome de Pierre Robin (génétique), Thaïlande.
- MESH :
- génétique : Blépharoptose, Facteurs de transcription Forkhead, Lymphoedème, Malformations multiples, Syndrome de Pierre Robin.
- imagerie diagnostique : Lymphoedème.
- malformations : Cils, Frein de la langue.
- Analyse de mutations d'ADN, Enfant, Gènes dominants, Humains, Mutagenèse par insertion, Mutation avec décalage du cadre de lecture, Mâle, Radiographie, Syndrome, Thaïlande.
English descriptors
- KwdEn :
- Abnormalities, Multiple (genetics), Blepharoptosis (genetics), Child, DNA Mutational Analysis, Eyelashes (abnormalities), Forkhead Transcription Factors (genetics), Frameshift Mutation, Genes, Dominant, Humans, Lingual Frenum (abnormalities), Lymphedema (diagnostic imaging), Lymphedema (genetics), Male, Mutagenesis, Insertional, Pierre Robin Syndrome (genetics), Radiography, Syndrome, Thailand.
- MESH :
- chemical , genetics : Forkhead Transcription Factors.
- abnormalities : Eyelashes, Lingual Frenum.
- diagnostic imaging : Lymphedema.
- genetics : Abnormalities, Multiple, Blepharoptosis, Lymphedema, Pierre Robin Syndrome.
- Child, DNA Mutational Analysis, Frameshift Mutation, Genes, Dominant, Humans, Male, Mutagenesis, Insertional, Radiography, Syndrome, Thailand.
Abstract
Lymphedema-distichiasis syndrome is a rare primary lymphedema inherited as an autosomal dominant disorder. The characteristic features consist of late onset-lymphedema and distichiasis together with other occasionally seen features including varicose vein, cleft palate, ptosis, and congenital heart diseases. FOXC2 is the gene found to be associated with this syndrome. We report here the first Thai patient who has characteristic features of this syndrome and the infrequently described features including ankyloglossia, and Robin sequence which consists of glossoptosis, cleft palate, and micrognathia. Mutation analysis of FOXC2 revealed c. 595-596 insC.
DOI: 10.1002/ajmg.a.33273
PubMed: 20186799
Affiliations:
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The characteristic features consist of late onset-lymphedema and distichiasis together with other occasionally seen features including varicose vein, cleft palate, ptosis, and congenital heart diseases. FOXC2 is the gene found to be associated with this syndrome. We report here the first Thai patient who has characteristic features of this syndrome and the infrequently described features including ankyloglossia, and Robin sequence which consists of glossoptosis, cleft palate, and micrognathia. Mutation analysis of FOXC2 revealed c. 595-596 insC.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">20186799</PMID><DateCreated><Year>2010</Year><Month>03</Month><Day>01</Day></DateCreated><DateCompleted><Year>2010</Year><Month>04</Month><Day>12</Day></DateCompleted><DateRevised><Year>2016</Year><Month>11</Month><Day>25</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1552-4833</ISSN><JournalIssue CitedMedium="Internet"><Volume>152A</Volume><Issue>3</Issue><PubDate><Year>2010</Year><Month>Mar</Month></PubDate></JournalIssue><Title>American journal of medical genetics. Part A</Title><ISOAbbreviation>Am. J. Med. Genet. A</ISOAbbreviation></Journal><ArticleTitle>c. 595-596 insC of FOXC2 underlies lymphedema, distichiasis, ptosis, ankyloglossia, and Robin sequence in a Thai patient.</ArticleTitle><Pagination><MedlinePgn>737-40</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/ajmg.a.33273</ELocationID><Abstract><AbstractText>Lymphedema-distichiasis syndrome is a rare primary lymphedema inherited as an autosomal dominant disorder. The characteristic features consist of late onset-lymphedema and distichiasis together with other occasionally seen features including varicose vein, cleft palate, ptosis, and congenital heart diseases. FOXC2 is the gene found to be associated with this syndrome. We report here the first Thai patient who has characteristic features of this syndrome and the infrequently described features including ankyloglossia, and Robin sequence which consists of glossoptosis, cleft palate, and micrognathia. Mutation analysis of FOXC2 revealed c. 595-596 insC.</AbstractText><CopyrightInformation>(c) 2010 Wiley-Liss, Inc.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Tanpaiboon</LastName><ForeName>Pranoot</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Faculty of Medicine, Department of Pediatrics, Chiang Mai University, Chiang Mai, Thailand. tanpaiboon1@yahoo.com</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kantaputra</LastName><ForeName>Piranit</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Wejathikul</LastName><ForeName>Karn</ForeName><Initials>K</Initials></Author><Author ValidYN="Y"><LastName>Piyamongkol</LastName><ForeName>Wirawit</ForeName><Initials>W</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Am J Med Genet A</MedlineTA><NlmUniqueID>101235741</NlmUniqueID><ISSNLinking>1552-4825</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><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000015" MajorTopicYN="N">Abnormalities, Multiple</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D001763" MajorTopicYN="N">Blepharoptosis</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D002648" 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MajorTopicYN="N">abnormalities</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008209" MajorTopicYN="N">Lymphedema</DescriptorName><QualifierName UI="Q000000981" MajorTopicYN="N">diagnostic imaging</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D016254" MajorTopicYN="Y">Mutagenesis, Insertional</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010855" MajorTopicYN="N">Pierre Robin Syndrome</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D011859" MajorTopicYN="N">Radiography</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D013577" MajorTopicYN="N">Syndrome</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D013785" MajorTopicYN="N">Thailand</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2010</Year><Month>2</Month><Day>27</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2010</Year><Month>2</Month><Day>27</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2010</Year><Month>4</Month><Day>13</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">20186799</ArticleId><ArticleId IdType="doi">10.1002/ajmg.a.33273</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Thaïlande</li></country></list><tree><noCountry><name sortKey="Kantaputra, Piranit" sort="Kantaputra, Piranit" uniqKey="Kantaputra P" first="Piranit" last="Kantaputra">Piranit Kantaputra</name><name sortKey="Piyamongkol, Wirawit" sort="Piyamongkol, Wirawit" uniqKey="Piyamongkol W" first="Wirawit" last="Piyamongkol">Wirawit Piyamongkol</name><name sortKey="Wejathikul, Karn" sort="Wejathikul, Karn" uniqKey="Wejathikul K" first="Karn" last="Wejathikul">Karn Wejathikul</name></noCountry><country name="Thaïlande"><noRegion><name sortKey="Tanpaiboon, Pranoot" sort="Tanpaiboon, Pranoot" uniqKey="Tanpaiboon P" first="Pranoot" last="Tanpaiboon">Pranoot Tanpaiboon</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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