Lymphedema-distichiasis syndrome and FOXC2 gene mutation
Identifieur interne : 009889 ( Main/Exploration ); précédent : 009888; suivant : 009890Lymphedema-distichiasis syndrome and FOXC2 gene mutation
Auteurs : Elias I. Traboulsi [États-Unis] ; Khouloud Al-Khayer [États-Unis] ; Masayuki Matsumoto [États-Unis] ; Mark A. Kimak [États-Unis] ; Susan Crowe [États-Unis] ; Steven E. Wilson [États-Unis] ; David N. Finegold [États-Unis] ; Robert E. Ferrell [États-Unis] ; David M. Meisler [États-Unis]Source :
- American journal of ophthalmology [ 0002-9394 ] ; 2002.
Descripteurs français
- KwdFr :
- Adulte d'âge moyen, Cils (anatomopathologie), Cils (malformations), Enfant, Facteurs de transcription (génétique), Facteurs de transcription Forkhead, Femelle, Humains, Lymphoedème (), Lymphoedème (génétique), Malformations (anatomopathologie), Malformations (génétique), Mutation (génétique), Mâle, Pedigree, Protéines de liaison à l'ADN (génétique), Syndrome, Séquence nucléotidique.
- MESH :
- anatomopathologie : Cils, Malformations.
- génétique : Facteurs de transcription, Lymphoedème, Malformations, Mutation, Protéines de liaison à l'ADN.
- malformations : Cils.
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
- Autosomal character, Base Sequence, Child, Congenital Abnormalities (genetics), Congenital Abnormalities (pathology), DNA-Binding Proteins (genetics), Distichiasis, Dominant character, Eyelashes (abnormalities), Eyelashes (pathology), Family study, Female, Forkhead Transcription Factors, Gene, Human, Humans, Lymphedema, Lymphedema (complications), Lymphedema (genetics), Male, Middle Aged, Mutation, Mutation (genetics), Pedigree, Symptomatology, Syndrome, Transcription Factors (genetics).
- MESH :
- chemical , genetics : DNA-Binding Proteins, Transcription Factors.
- abnormalities : Eyelashes.
- complications : Lymphedema.
- genetics : Congenital Abnormalities, Lymphedema, Mutation.
- pathology : Congenital Abnormalities, Eyelashes.
- Base Sequence, Child, Female, Forkhead Transcription Factors, Humans, Male, Middle Aged, Pedigree, Syndrome.
Abstract
● PURPOSE: To describe the clinical characteristics of a family with autosomal dominant lymphedema-distichiasis syndrome and to report the results of analysis of the FOXC2 gene ● DESIGN: Observational and experimental study. ● METHODS: The setting was a clinical practice. The study population was 17 members of a family with lymphedema-distichiasis. Observation procedures were complete ophthalmologic examinations and collection of blood samples. DNA was extracted. Mutation analysis of the coding region of the FOXC2 gene was performed using direct sequencing of polymerase chain reaction (PCR) product and a restriction enzyme assay. The main outcome measure was inheritance of mutation in FOXC2 gene. ● RESULTS: Nine patients had distichiasis or lymphedema or both and eight did not. Sequencing of the coding region of the only translated exon of the FOXC2 gene revealed a C to A transversion at position 939 resulting in a Tyr313Stop codon with premature termination of translation and a truncated protein product. The mutation was present in all nine affected individuals and in an asymptomatic 9-year-old boy. ● CONCLUSIONS: Distichiasis-lymphedema syndrome results from mutations in FOXC2, a member of the forkhead/winged family of transcription factors. There is intrafamilial variation in the clinical expression of the mutation.
Affiliations:
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Traboulsi</name><affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic Foundation</s1><s2>Cleveland, Ohio</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Ohio</region></placeName></affiliation></author><author><name sortKey="Al Khayer, Khouloud" sort="Al Khayer, Khouloud" uniqKey="Al Khayer K" first="Khouloud" last="Al-Khayer">Khouloud Al-Khayer</name><affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic Foundation</s1><s2>Cleveland, Ohio</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Ohio</region></placeName></affiliation></author><author><name sortKey="Matsumoto, Masayuki" sort="Matsumoto, Masayuki" uniqKey="Matsumoto M" first="Masayuki" last="Matsumoto">Masayuki Matsumoto</name><affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic Foundation</s1><s2>Cleveland, Ohio</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Ohio</region></placeName></affiliation></author><author><name sortKey="Kimak, Mark A" sort="Kimak, Mark A" uniqKey="Kimak M" first="Mark A." last="Kimak">Mark A. 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Traboulsi</name><affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic Foundation</s1><s2>Cleveland, Ohio</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Ohio</region></placeName></affiliation></author><author><name sortKey="Al Khayer, Khouloud" sort="Al Khayer, Khouloud" uniqKey="Al Khayer K" first="Khouloud" last="Al-Khayer">Khouloud Al-Khayer</name><affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic Foundation</s1><s2>Cleveland, Ohio</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Ohio</region></placeName></affiliation></author><author><name sortKey="Matsumoto, Masayuki" sort="Matsumoto, Masayuki" uniqKey="Matsumoto M" first="Masayuki" last="Matsumoto">Masayuki Matsumoto</name><affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic Foundation</s1><s2>Cleveland, Ohio</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Ohio</region></placeName></affiliation></author><author><name sortKey="Kimak, Mark A" sort="Kimak, Mark A" uniqKey="Kimak M" first="Mark A." last="Kimak">Mark A. Kimak</name><affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh</s1><s2>Pittsburgh, Pennsylvania</s2><s3>USA</s3><sZ>4 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Pennsylvanie</region><settlement type="city">Pittsburgh</settlement></placeName><orgName type="university">Université de Pittsburgh</orgName></affiliation></author><author><name sortKey="Crowe, Susan" sort="Crowe, Susan" uniqKey="Crowe S" first="Susan" last="Crowe">Susan Crowe</name><affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic Foundation</s1><s2>Cleveland, Ohio</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Ohio</region></placeName></affiliation></author><author><name sortKey="Wilson, Steven E" sort="Wilson, Steven E" uniqKey="Wilson S" first="Steven E." last="Wilson">Steven E. Wilson</name><affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic Foundation</s1><s2>Cleveland, Ohio</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Ohio</region></placeName></affiliation></author><author><name sortKey="Finegold, David N" sort="Finegold, David N" uniqKey="Finegold D" first="David N." last="Finegold">David N. Finegold</name><affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh</s1><s2>Pittsburgh, Pennsylvania</s2><s3>USA</s3><sZ>4 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Pennsylvanie</region><settlement type="city">Pittsburgh</settlement></placeName><orgName type="university">Université de Pittsburgh</orgName></affiliation><affiliation wicri:level="4"><inist:fA14 i1="03"><s1>Department of Pediatrics, School of Medicine, University of Pittsburgh</s1><s2>Pittsburgh, Pennsylvania</s2><s3>USA</s3><sZ>7 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Pennsylvanie</region><settlement type="city">Pittsburgh</settlement></placeName><orgName type="university">Université de Pittsburgh</orgName></affiliation></author><author><name sortKey="Ferrell, Robert E" sort="Ferrell, Robert E" uniqKey="Ferrell R" first="Robert E." last="Ferrell">Robert E. Ferrell</name><affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh</s1><s2>Pittsburgh, Pennsylvania</s2><s3>USA</s3><sZ>4 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Pennsylvanie</region><settlement type="city">Pittsburgh</settlement></placeName><orgName type="university">Université de Pittsburgh</orgName></affiliation></author><author><name sortKey="Meisler, David M" sort="Meisler, David M" uniqKey="Meisler D" first="David M." last="Meisler">David M. Meisler</name><affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh</s1><s2>Pittsburgh, Pennsylvania</s2><s3>USA</s3><sZ>4 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Pennsylvanie</region><settlement type="city">Pittsburgh</settlement></placeName><orgName type="university">Université de Pittsburgh</orgName></affiliation></author></analytic><series><title level="j" type="main">American journal of ophthalmology</title><title level="j" type="abbreviated">Am. j. ophthalmol.</title><idno type="ISSN">0002-9394</idno><imprint><date when="2002">2002</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">American journal of ophthalmology</title><title level="j" type="abbreviated">Am. j. ophthalmol.</title><idno type="ISSN">0002-9394</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Autosomal character</term><term>Base Sequence</term><term>Child</term><term>Congenital Abnormalities (genetics)</term><term>Congenital Abnormalities (pathology)</term><term>DNA-Binding Proteins (genetics)</term><term>Distichiasis</term><term>Dominant character</term><term>Eyelashes (abnormalities)</term><term>Eyelashes (pathology)</term><term>Family study</term><term>Female</term><term>Forkhead Transcription Factors</term><term>Gene</term><term>Human</term><term>Humans</term><term>Lymphedema</term><term>Lymphedema (complications)</term><term>Lymphedema (genetics)</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>Mutation (genetics)</term><term>Pedigree</term><term>Symptomatology</term><term>Syndrome</term><term>Transcription Factors (genetics)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adulte d'âge moyen</term><term>Cils (anatomopathologie)</term><term>Cils (malformations)</term><term>Enfant</term><term>Facteurs de transcription (génétique)</term><term>Facteurs de transcription Forkhead</term><term>Femelle</term><term>Humains</term><term>Lymphoedème ()</term><term>Lymphoedème (génétique)</term><term>Malformations (anatomopathologie)</term><term>Malformations (génétique)</term><term>Mutation (génétique)</term><term>Mâle</term><term>Pedigree</term><term>Protéines de liaison à l'ADN (génétique)</term><term>Syndrome</term><term>Séquence nucléotidique</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA-Binding Proteins</term><term>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</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Congenital Abnormalities</term><term>Lymphedema</term><term>Mutation</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Facteurs de transcription</term><term>Lymphoedème</term><term>Malformations</term><term>Mutation</term><term>Protéines de liaison à l'ADN</term></keywords><keywords scheme="MESH" qualifier="malformations" xml:lang="fr"><term>Cils</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Congenital Abnormalities</term><term>Eyelashes</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Base Sequence</term><term>Child</term><term>Female</term><term>Forkhead Transcription Factors</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Pedigree</term><term>Syndrome</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Adulte d'âge moyen</term><term>Enfant</term><term>Facteurs de transcription Forkhead</term><term>Femelle</term><term>Humains</term><term>Lymphoedème</term><term>Mâle</term><term>Pedigree</term><term>Symptomatologie</term><term>Etude familiale</term><term>Caractère autosomique</term><term>Lymphoedème</term><term>Caractère dominant</term><term>Distichiasis</term><term>Gène</term><term>Mutation</term><term>Homme</term><term>Syndrome</term><term>Séquence nucléotidique</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">● PURPOSE: To describe the clinical characteristics of a family with autosomal dominant lymphedema-distichiasis syndrome and to report the results of analysis of the FOXC2 gene ● DESIGN: Observational and experimental study. ● METHODS: The setting was a clinical practice. The study population was 17 members of a family with lymphedema-distichiasis. Observation procedures were complete ophthalmologic examinations and collection of blood samples. DNA was extracted. Mutation analysis of the coding region of the FOXC2 gene was performed using direct sequencing of polymerase chain reaction (PCR) product and a restriction enzyme assay. The main outcome measure was inheritance of mutation in FOXC2 gene. ● RESULTS: Nine patients had distichiasis or lymphedema or both and eight did not. Sequencing of the coding region of the only translated exon of the FOXC2 gene revealed a C to A transversion at position 939 resulting in a Tyr313Stop codon with premature termination of translation and a truncated protein product. The mutation was present in all nine affected individuals and in an asymptomatic 9-year-old boy. ● CONCLUSIONS: Distichiasis-lymphedema syndrome results from mutations in FOXC2, a member of the forkhead/winged family of transcription factors. There is intrafamilial variation in the clinical expression of the mutation.</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Ohio</li><li>Pennsylvanie</li></region><settlement><li>Pittsburgh</li></settlement><orgName><li>Université de Pittsburgh</li></orgName></list><tree><country name="États-Unis"><region name="Ohio"><name sortKey="Traboulsi, Elias I" sort="Traboulsi, Elias I" uniqKey="Traboulsi E" first="Elias I." last="Traboulsi">Elias I. Traboulsi</name></region><name sortKey="Al Khayer, Khouloud" sort="Al Khayer, Khouloud" uniqKey="Al Khayer K" first="Khouloud" last="Al-Khayer">Khouloud Al-Khayer</name><name sortKey="Crowe, Susan" sort="Crowe, Susan" uniqKey="Crowe S" first="Susan" last="Crowe">Susan Crowe</name><name sortKey="Ferrell, Robert E" sort="Ferrell, Robert E" uniqKey="Ferrell R" first="Robert E." last="Ferrell">Robert E. Ferrell</name><name sortKey="Finegold, David N" sort="Finegold, David N" uniqKey="Finegold D" first="David N." last="Finegold">David N. Finegold</name><name sortKey="Finegold, David N" sort="Finegold, David N" uniqKey="Finegold D" first="David N." last="Finegold">David N. Finegold</name><name sortKey="Kimak, Mark A" sort="Kimak, Mark A" uniqKey="Kimak M" first="Mark A." last="Kimak">Mark A. Kimak</name><name sortKey="Matsumoto, Masayuki" sort="Matsumoto, Masayuki" uniqKey="Matsumoto M" first="Masayuki" last="Matsumoto">Masayuki Matsumoto</name><name sortKey="Meisler, David M" sort="Meisler, David M" uniqKey="Meisler D" first="David M." last="Meisler">David M. Meisler</name><name sortKey="Wilson, Steven E" sort="Wilson, Steven E" uniqKey="Wilson S" first="Steven E." last="Wilson">Steven E. Wilson</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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