Lymphedema-distichiasis syndrome without FOXC2 mutation: evidence for chromosome 16 duplication upstream of FOXC2.
Identifieur interne : 006182 ( Main/Exploration ); précédent : 006181; suivant : 006183Lymphedema-distichiasis syndrome without FOXC2 mutation: evidence for chromosome 16 duplication upstream of FOXC2.
Auteurs : M H Witte [États-Unis] ; R P Erickson ; M. Khalil ; M. Dellinger ; M. Bernas ; T. Grogan ; H. Nitta ; J. Feng ; D. Duggan ; C L WitteSource :
- Lymphology [ 0024-7766 ] ; 2009.
Descripteurs français
- KwdFr :
- Adulte, Chromosomes humains de la paire 16 (génétique), Cils (anatomopathologie), Cils (malformations), Duplication de gène, Facteurs de transcription Forkhead (génétique), Femelle, Humains, Lymphoedème (diagnostic), Lymphoedème (génétique), Mutation (génétique), Phénotype, Polymorphisme de nucléotide simple (génétique), Régions 5' non traduites (génétique), Syndrome, Séquençage par oligonucléotides en batterie.
- MESH :
- anatomopathologie : Cils.
- diagnostic : Lymphoedème.
- génétique : Chromosomes humains de la paire 16, Facteurs de transcription Forkhead, Lymphoedème, Mutation, Polymorphisme de nucléotide simple, Régions 5' non traduites.
- malformations : Cils.
- Adulte, Duplication de gène, Femelle, Humains, Phénotype, Syndrome, Séquençage par oligonucléotides en batterie.
English descriptors
- KwdEn :
- 5' Untranslated Regions (genetics), Adult, Chromosomes, Human, Pair 16 (genetics), Eyelashes (abnormalities), Eyelashes (pathology), Female, Forkhead Transcription Factors (genetics), Gene Duplication, Humans, Lymphedema (diagnosis), Lymphedema (genetics), Mutation (genetics), Oligonucleotide Array Sequence Analysis, Phenotype, Polymorphism, Single Nucleotide (genetics), Syndrome.
- MESH :
- chemical , genetics : 5' Untranslated Regions, Forkhead Transcription Factors.
- abnormalities : Eyelashes.
- diagnosis : Lymphedema.
- genetics : Chromosomes, Human, Pair 16, Lymphedema, Mutation, Polymorphism, Single Nucleotide.
- pathology : Eyelashes.
- Adult, Female, Gene Duplication, Humans, Oligonucleotide Array Sequence Analysis, Phenotype, Syndrome.
Abstract
A patient with the classical phenotype of Lymphedema-Distichiasis syndrome (OMIM 153400) is described who showed no mutations in the sequence of FOXC2. Accordingly, a Gene Chip 250k array analysis was undertaken with dense SNP genotyping of the genomic region surrounding the FOXC2 locus on Chromosome 16 followed by copy number evaluation by real time PCR. The latter assay showed evidence of a duplicated region 5' of FOXC2 that could be causative for the patient's striking phenotype, which included both distichiasis and a hyperplastic refluxing lymphatic vascular and lymph node phenotype associated with pubertal onset lymphedema, scoliosis and strabismus.
PubMed: 20218083
Affiliations:
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Le document en format XML
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Duggan</name></author><author><name sortKey="Witte, C L" sort="Witte, C L" uniqKey="Witte C" first="C L" last="Witte">C L Witte</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2009">2009</date><idno type="RBID">pubmed:20218083</idno><idno type="pmid">20218083</idno><idno type="wicri:Area/PubMed/Corpus">002B37</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">002B37</idno><idno type="wicri:Area/PubMed/Curation">002B37</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">002B37</idno><idno type="wicri:Area/PubMed/Checkpoint">002B37</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">002B37</idno><idno type="wicri:Area/Ncbi/Merge">003957</idno><idno type="wicri:Area/Ncbi/Curation">003957</idno><idno type="wicri:Area/Ncbi/Checkpoint">003957</idno><idno type="wicri:doubleKey">0024-7766:2009:Witte M:lymphedema:distichiasis:syndrome</idno><idno type="wicri:Area/Main/Merge">006256</idno><idno type="wicri:Area/Main/Curation">006182</idno><idno type="wicri:Area/Main/Exploration">006182</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Lymphedema-distichiasis syndrome without FOXC2 mutation: evidence for chromosome 16 duplication upstream of FOXC2.</title><author><name sortKey="Witte, M H" sort="Witte, M H" uniqKey="Witte M" first="M H" last="Witte">M H Witte</name><affiliation wicri:level="2"><nlm:affiliation>Department of Surgery, University of Arizona College of Medicine, Tucson, AZ 85724-5200, USA. lymph@email.arizona.edu</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Surgery, University of Arizona College of Medicine, Tucson, AZ 85724-5200</wicri:regionArea><placeName><region type="state">Arizona</region></placeName></affiliation></author><author><name sortKey="Erickson, R P" sort="Erickson, R P" uniqKey="Erickson R" first="R P" last="Erickson">R P Erickson</name></author><author><name sortKey="Khalil, M" sort="Khalil, M" uniqKey="Khalil M" first="M" last="Khalil">M. Khalil</name></author><author><name sortKey="Dellinger, M" sort="Dellinger, M" uniqKey="Dellinger M" first="M" last="Dellinger">M. Dellinger</name></author><author><name sortKey="Bernas, M" sort="Bernas, M" uniqKey="Bernas M" first="M" last="Bernas">M. Bernas</name></author><author><name sortKey="Grogan, T" sort="Grogan, T" uniqKey="Grogan T" first="T" last="Grogan">T. Grogan</name></author><author><name sortKey="Nitta, H" sort="Nitta, H" uniqKey="Nitta H" first="H" last="Nitta">H. Nitta</name></author><author><name sortKey="Feng, J" sort="Feng, J" uniqKey="Feng J" first="J" last="Feng">J. Feng</name></author><author><name sortKey="Duggan, D" sort="Duggan, D" uniqKey="Duggan D" first="D" last="Duggan">D. Duggan</name></author><author><name sortKey="Witte, C L" sort="Witte, C L" uniqKey="Witte C" first="C L" last="Witte">C L Witte</name></author></analytic><series><title level="j">Lymphology</title><idno type="ISSN">0024-7766</idno><imprint><date when="2009" type="published">2009</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>5' Untranslated Regions (genetics)</term><term>Adult</term><term>Chromosomes, Human, Pair 16 (genetics)</term><term>Eyelashes (abnormalities)</term><term>Eyelashes (pathology)</term><term>Female</term><term>Forkhead Transcription Factors (genetics)</term><term>Gene Duplication</term><term>Humans</term><term>Lymphedema (diagnosis)</term><term>Lymphedema (genetics)</term><term>Mutation (genetics)</term><term>Oligonucleotide Array Sequence Analysis</term><term>Phenotype</term><term>Polymorphism, Single Nucleotide (genetics)</term><term>Syndrome</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adulte</term><term>Chromosomes humains de la paire 16 (génétique)</term><term>Cils (anatomopathologie)</term><term>Cils (malformations)</term><term>Duplication de gène</term><term>Facteurs de transcription Forkhead (génétique)</term><term>Femelle</term><term>Humains</term><term>Lymphoedème (diagnostic)</term><term>Lymphoedème (génétique)</term><term>Mutation (génétique)</term><term>Phénotype</term><term>Polymorphisme de nucléotide simple (génétique)</term><term>Régions 5' non traduites (génétique)</term><term>Syndrome</term><term>Séquençage par oligonucléotides en batterie</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>5' Untranslated Regions</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></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Lymphoedème</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosomes, Human, Pair 16</term><term>Lymphedema</term><term>Mutation</term><term>Polymorphism, Single Nucleotide</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Chromosomes humains de la paire 16</term><term>Facteurs de transcription Forkhead</term><term>Lymphoedème</term><term>Mutation</term><term>Polymorphisme de nucléotide simple</term><term>Régions 5' non traduites</term></keywords><keywords scheme="MESH" qualifier="malformations" xml:lang="fr"><term>Cils</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Eyelashes</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Female</term><term>Gene Duplication</term><term>Humans</term><term>Oligonucleotide Array Sequence Analysis</term><term>Phenotype</term><term>Syndrome</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adulte</term><term>Duplication de gène</term><term>Femelle</term><term>Humains</term><term>Phénotype</term><term>Syndrome</term><term>Séquençage par oligonucléotides en batterie</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">A patient with the classical phenotype of Lymphedema-Distichiasis syndrome (OMIM 153400) is described who showed no mutations in the sequence of FOXC2. Accordingly, a Gene Chip 250k array analysis was undertaken with dense SNP genotyping of the genomic region surrounding the FOXC2 locus on Chromosome 16 followed by copy number evaluation by real time PCR. The latter assay showed evidence of a duplicated region 5' of FOXC2 that could be causative for the patient's striking phenotype, which included both distichiasis and a hyperplastic refluxing lymphatic vascular and lymph node phenotype associated with pubertal onset lymphedema, scoliosis and strabismus.</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Arizona</li></region></list><tree><noCountry><name sortKey="Bernas, M" sort="Bernas, M" uniqKey="Bernas M" first="M" last="Bernas">M. Bernas</name><name sortKey="Dellinger, M" sort="Dellinger, M" uniqKey="Dellinger M" first="M" last="Dellinger">M. Dellinger</name><name sortKey="Duggan, D" sort="Duggan, D" uniqKey="Duggan D" first="D" last="Duggan">D. Duggan</name><name sortKey="Erickson, R P" sort="Erickson, R P" uniqKey="Erickson R" first="R P" last="Erickson">R P Erickson</name><name sortKey="Feng, J" sort="Feng, J" uniqKey="Feng J" first="J" last="Feng">J. Feng</name><name sortKey="Grogan, T" sort="Grogan, T" uniqKey="Grogan T" first="T" last="Grogan">T. Grogan</name><name sortKey="Khalil, M" sort="Khalil, M" uniqKey="Khalil M" first="M" last="Khalil">M. Khalil</name><name sortKey="Nitta, H" sort="Nitta, H" uniqKey="Nitta H" first="H" last="Nitta">H. Nitta</name><name sortKey="Witte, C L" sort="Witte, C L" uniqKey="Witte C" first="C L" last="Witte">C L Witte</name></noCountry><country name="États-Unis"><region name="Arizona"><name sortKey="Witte, M H" sort="Witte, M H" uniqKey="Witte M" first="M H" last="Witte">M H Witte</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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