Mutation of the FOXC2 gene in familial distichiasis.
Identifieur interne : 004148 ( PubMed/Curation ); précédent : 004147; suivant : 004149Mutation of the FOXC2 gene in familial distichiasis.
Auteurs : Brian P. Brooks [États-Unis] ; Susan L. Dagenais ; Christine C. Nelson ; Michael W. Glynn ; Mark S. Caulder ; Catherine A. Downs ; Thomas W. GloverSource :
- Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus [ 1091-8531 ] ; 2003.
Descripteurs français
- KwdFr :
- Adolescent, Adulte, Adénine, Analyse de mutations d'ADN, Cils (anatomopathologie), Cils (malformations), Codon (génétique), Cytosine, Facteurs de transcription (génétique), Facteurs de transcription Forkhead, Femelle, Humains, Malformations oculaires (anatomopathologie), Malformations oculaires (génétique), Mutation, Mâle, Pedigree, Protéines de liaison à l'ADN (génétique), Séquence nucléotidique (génétique).
- MESH :
- anatomopathologie : Cils, Malformations oculaires.
- génétique : Codon, Facteurs de transcription, Malformations oculaires, Protéines de liaison à l'ADN, Séquence nucléotidique.
- malformations : Cils.
- Adolescent, Adulte, Adénine, Analyse de mutations d'ADN, Cytosine, Facteurs de transcription Forkhead, Femelle, Humains, Mutation, Mâle, Pedigree.
English descriptors
- KwdEn :
- Adenine, Adolescent, Adult, Base Sequence (genetics), Codon (genetics), Cytosine, DNA Mutational Analysis, DNA-Binding Proteins (genetics), Eye Abnormalities (genetics), Eye Abnormalities (pathology), Eyelashes (abnormalities), Eyelashes (pathology), Female, Forkhead Transcription Factors, Humans, Male, Mutation, Pedigree, Transcription Factors (genetics).
- MESH :
- chemical , genetics : Codon, DNA-Binding Proteins, Transcription Factors.
- chemical : Adenine, Cytosine, Forkhead Transcription Factors.
- abnormalities : Eyelashes.
- genetics : Base Sequence, Eye Abnormalities.
- pathology : Eye Abnormalities, Eyelashes.
- Adolescent, Adult, DNA Mutational Analysis, Female, Humans, Male, Mutation, Pedigree.
Abstract
To examine the FOXC2 gene in a family with hereditary distichiasis.
DOI: 10.1016/S1091853103001447
PubMed: 14566319
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Nelson</name></author><author><name sortKey="Glynn, Michael W" sort="Glynn, Michael W" uniqKey="Glynn M" first="Michael W" last="Glynn">Michael W. Glynn</name></author><author><name sortKey="Caulder, Mark S" sort="Caulder, Mark S" uniqKey="Caulder M" first="Mark S" last="Caulder">Mark S. Caulder</name></author><author><name sortKey="Downs, Catherine A" sort="Downs, Catherine A" uniqKey="Downs C" first="Catherine A" last="Downs">Catherine A. Downs</name></author><author><name sortKey="Glover, Thomas W" sort="Glover, Thomas W" uniqKey="Glover T" first="Thomas W" last="Glover">Thomas W. 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Brooks</name><affiliation wicri:level="1"><nlm:affiliation>Department of Ophthalmology, University of Michigan, Ann Arbor, MI, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Ophthalmology, University of Michigan, Ann Arbor, MI</wicri:regionArea></affiliation></author><author><name sortKey="Dagenais, Susan L" sort="Dagenais, Susan L" uniqKey="Dagenais S" first="Susan L" last="Dagenais">Susan L. Dagenais</name></author><author><name sortKey="Nelson, Christine C" sort="Nelson, Christine C" uniqKey="Nelson C" first="Christine C" last="Nelson">Christine C. Nelson</name></author><author><name sortKey="Glynn, Michael W" sort="Glynn, Michael W" uniqKey="Glynn M" first="Michael W" last="Glynn">Michael W. Glynn</name></author><author><name sortKey="Caulder, Mark S" sort="Caulder, Mark S" uniqKey="Caulder M" first="Mark S" last="Caulder">Mark S. Caulder</name></author><author><name sortKey="Downs, Catherine A" sort="Downs, Catherine A" uniqKey="Downs C" first="Catherine A" last="Downs">Catherine A. Downs</name></author><author><name sortKey="Glover, Thomas W" sort="Glover, Thomas W" uniqKey="Glover T" first="Thomas W" last="Glover">Thomas W. Glover</name></author></analytic><series><title level="j">Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus</title><idno type="ISSN">1091-8531</idno><imprint><date when="2003" type="published">2003</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adenine</term><term>Adolescent</term><term>Adult</term><term>Base Sequence (genetics)</term><term>Codon (genetics)</term><term>Cytosine</term><term>DNA Mutational Analysis</term><term>DNA-Binding Proteins (genetics)</term><term>Eye Abnormalities (genetics)</term><term>Eye Abnormalities (pathology)</term><term>Eyelashes (abnormalities)</term><term>Eyelashes (pathology)</term><term>Female</term><term>Forkhead Transcription Factors</term><term>Humans</term><term>Male</term><term>Mutation</term><term>Pedigree</term><term>Transcription Factors (genetics)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Adénine</term><term>Analyse de mutations d'ADN</term><term>Cils (anatomopathologie)</term><term>Cils (malformations)</term><term>Codon (génétique)</term><term>Cytosine</term><term>Facteurs de transcription (génétique)</term><term>Facteurs de transcription Forkhead</term><term>Femelle</term><term>Humains</term><term>Malformations oculaires (anatomopathologie)</term><term>Malformations oculaires (génétique)</term><term>Mutation</term><term>Mâle</term><term>Pedigree</term><term>Protéines de liaison à l'ADN (génétique)</term><term>Séquence nucléotidique (génétique)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Codon</term><term>DNA-Binding Proteins</term><term>Transcription Factors</term></keywords><keywords scheme="MESH" type="chemical" xml:lang="en"><term>Adenine</term><term>Cytosine</term><term>Forkhead Transcription Factors</term></keywords><keywords scheme="MESH" qualifier="abnormalities" xml:lang="en"><term>Eyelashes</term></keywords><keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Cils</term><term>Malformations oculaires</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Base Sequence</term><term>Eye Abnormalities</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Codon</term><term>Facteurs de transcription</term><term>Malformations oculaires</term><term>Protéines de liaison à l'ADN</term><term>Séquence nucléotidique</term></keywords><keywords scheme="MESH" qualifier="malformations" xml:lang="fr"><term>Cils</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Eye Abnormalities</term><term>Eyelashes</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>DNA Mutational Analysis</term><term>Female</term><term>Humans</term><term>Male</term><term>Mutation</term><term>Pedigree</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Adénine</term><term>Analyse de mutations d'ADN</term><term>Cytosine</term><term>Facteurs de transcription Forkhead</term><term>Femelle</term><term>Humains</term><term>Mutation</term><term>Mâle</term><term>Pedigree</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">To examine the FOXC2 gene in a family with hereditary distichiasis.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">14566319</PMID><DateCreated><Year>2003</Year><Month>10</Month><Day>20</Day></DateCreated><DateCompleted><Year>2004</Year><Month>01</Month><Day>05</Day></DateCompleted><DateRevised><Year>2016</Year><Month>10</Month><Day>20</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">1091-8531</ISSN><JournalIssue CitedMedium="Print"><Volume>7</Volume><Issue>5</Issue><PubDate><Year>2003</Year><Month>Oct</Month></PubDate></JournalIssue><Title>Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus</Title><ISOAbbreviation>J AAPOS</ISOAbbreviation></Journal><ArticleTitle>Mutation of the FOXC2 gene in familial distichiasis.</ArticleTitle><Pagination><MedlinePgn>354-7</MedlinePgn></Pagination><Abstract><AbstractText Label="OBJECTIVE" NlmCategory="OBJECTIVE">To examine the FOXC2 gene in a family with hereditary distichiasis.</AbstractText><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Distichiasis, ie, a second row of eyelashes arising from the meibomian glands of the eyelids, can be inherited either alone (Online Mendelian Inheritance in Man [OMIM] no. 126300) or, more commonly, as part of the lymphedema-distichiasis (LD) syndrome (OMIM no. 153400). More than 45 families with mutations in the FOXC2 gene and LD have been described. Both lymphedema and distichiasis are highly penetrant. Distichiasis without lymphedema is not commonly seen.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">We examined three generations of a family (N = nine members) with hereditary distichiasis but without lymphedema or other features of LD syndrome. The FOXC2 gene was polymerase chain reaction--amplified from genomic DNA from all family members and examined for mutations.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">Clinical examination showed distichiasis of all four lids in two affected family members across two generations. There were no other consistent ophthalmologic abnormalities in the family. A cytosine-to-adenine transversion was identified in DNA from affected study participants at nucleotide position 1076, which would be predicted to cause truncation of the protein at codon 359. This change was not observed in any of the nine unaffected family members participating.</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">This finding suggests that hereditary distichiasis and LD may not be separate genetic disorders but different phenotypic expressions of the same underlying disorder. Ophthalmologists should be aware that LD may present as distichiasis alone and counsel and refer their patients appropriately.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Brooks</LastName><ForeName>Brian P</ForeName><Initials>BP</Initials><AffiliationInfo><Affiliation>Department of Ophthalmology, University of Michigan, Ann Arbor, MI, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Dagenais</LastName><ForeName>Susan L</ForeName><Initials>SL</Initials></Author><Author ValidYN="Y"><LastName>Nelson</LastName><ForeName>Christine C</ForeName><Initials>CC</Initials></Author><Author ValidYN="Y"><LastName>Glynn</LastName><ForeName>Michael W</ForeName><Initials>MW</Initials></Author><Author ValidYN="Y"><LastName>Caulder</LastName><ForeName>Mark S</ForeName><Initials>MS</Initials></Author><Author ValidYN="Y"><LastName>Downs</LastName><ForeName>Catherine A</ForeName><Initials>CA</Initials></Author><Author ValidYN="Y"><LastName>Glover</LastName><ForeName>Thomas W</ForeName><Initials>TW</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>HL 71206</GrantID><Acronym>HL</Acronym><Agency>NHLBI NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType><PublicationType UI="D013487">Research Support, U.S. Gov't, P.H.S.</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>J AAPOS</MedlineTA><NlmUniqueID>9710011</NlmUniqueID><ISSNLinking>1091-8531</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D003062">Codon</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D004268">DNA-Binding Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D051858">Forkhead Transcription Factors</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D014157">Transcription Factors</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C082078">mesenchyme fork head 1 protein</NameOfSubstance></Chemical><Chemical><RegistryNumber>8J337D1HZY</RegistryNumber><NameOfSubstance UI="D003596">Cytosine</NameOfSubstance></Chemical><Chemical><RegistryNumber>JAC85A2161</RegistryNumber><NameOfSubstance UI="D000225">Adenine</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000225" MajorTopicYN="N">Adenine</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000293" MajorTopicYN="N">Adolescent</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D001483" MajorTopicYN="N">Base Sequence</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D003062" MajorTopicYN="N">Codon</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D003596" MajorTopicYN="N">Cytosine</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D004252" MajorTopicYN="N">DNA Mutational Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D004268" MajorTopicYN="N">DNA-Binding Proteins</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005124" MajorTopicYN="N">Eye Abnormalities</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000473" MajorTopicYN="N">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005140" MajorTopicYN="N">Eyelashes</DescriptorName><QualifierName UI="Q000002" MajorTopicYN="Y">abnormalities</QualifierName><QualifierName UI="Q000473" MajorTopicYN="N">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D051858" MajorTopicYN="N">Forkhead Transcription Factors</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009154" MajorTopicYN="Y">Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010375" MajorTopicYN="N">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D014157" MajorTopicYN="N">Transcription Factors</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2003</Year><Month>10</Month><Day>21</Day><Hour>5</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2004</Year><Month>1</Month><Day>6</Day><Hour>5</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2003</Year><Month>10</Month><Day>21</Day><Hour>5</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">14566319</ArticleId><ArticleId IdType="doi">10.1016/S1091853103001447</ArticleId><ArticleId IdType="pii">S1091853103001447</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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