Hereditary lymphedema : evidence for linkage and genetic heterogeneity
Identifieur interne : 00BE06 ( Main/Merge ); précédent : 00BE05; suivant : 00BE07Hereditary lymphedema : evidence for linkage and genetic heterogeneity
Auteurs : R. E. Ferrell [États-Unis] ; K. L. Levinson [États-Unis] ; J. H. Esman [États-Unis] ; M. A. Kimak [États-Unis] ; E. C. Lawrence [États-Unis] ; M. M. Barmada [États-Unis] ; D. N. Finegold [États-Unis]Source :
- Human molecular genetics [ 0964-6906 ] ; 1998.
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- Pascal (Inist)
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- topic : Homme.
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Abstract
Hereditary or primary lymphedema is a developmental disorder of the lymphatic system which leads to a disabling and disfiguring swelling of the extremities. Hereditary lymphedema generally shows an autosomal dominant pattern of inheritance with reduced penetrance, variable expression and variable age at onset. Three multigeneration families demonstrating the phenotype of hereditary lymphedema segregating as an autosomal dominant trait with incomplete penetrance were genotyped for 366 autosomal markers. Linkage analysis yielded a two-point LOD score of 6.1 at θ = 0.0 for marker D5S1354and a maximum multipoint LOD score of 8.8 at marker D5S1354 located at chromosome 5q34-q35. Linkage analysis in two additional families using markers from the linked region showed one family consistent for linkage to distal chromosome 5. In the second family, linkage to 5q was excluded for all markers in the region with LOD scores Z< -2.0. The vascular endothelial growth factor C receptor (FLT4) was mapped to the linked region, and partial sequence analysis identified a G→A transition at nucleotide position 3360 of the FLT4 cDNA, predicting a leucine for proline substitution at residue 1126 of the mature receptor in one nuclear family. This study localizes a gene for primary lymphedema to distal chromosome 5q, identifies a plausible candidate gene in the linked region, and provides evidence for a second, unlinked locus for primary lymphedema.
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E." last="Ferrell">R. E. Ferrell</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Department of Human Genetics, University of Pittsburgh, 130 DeSoto Street</s1><s2>Pittsburgh, PA 15261</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><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="Levinson, K L" sort="Levinson, K L" uniqKey="Levinson K" first="K. L." last="Levinson">K. L. Levinson</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Department of Human Genetics, University of Pittsburgh, 130 DeSoto Street</s1><s2>Pittsburgh, PA 15261</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><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="Esman, J H" sort="Esman, J H" uniqKey="Esman J" first="J. H." last="Esman">J. H. Esman</name><affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Department of Physical Medicine and Rehabilitation, University of Pittsburgh, 130 DeSoto Street</s1><s2>Pittsburgh, PA 15261</s2><s3>USA</s3><sZ>3 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="Kimak, M A" sort="Kimak, M A" uniqKey="Kimak M" first="M. A." last="Kimak">M. A. Kimak</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Department of Human Genetics, University of Pittsburgh, 130 DeSoto Street</s1><s2>Pittsburgh, PA 15261</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><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="Lawrence, E C" sort="Lawrence, E C" uniqKey="Lawrence E" first="E. C." last="Lawrence">E. C. Lawrence</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Department of Human Genetics, University of Pittsburgh, 130 DeSoto Street</s1><s2>Pittsburgh, PA 15261</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><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="Barmada, M M" sort="Barmada, M M" uniqKey="Barmada M" first="M. M." last="Barmada">M. M. Barmada</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Department of Human Genetics, University of Pittsburgh, 130 DeSoto Street</s1><s2>Pittsburgh, PA 15261</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><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="Finegold, D N" sort="Finegold, D N" uniqKey="Finegold D" first="D. N." last="Finegold">D. N. Finegold</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Department of Human Genetics, University of Pittsburgh, 130 DeSoto Street</s1><s2>Pittsburgh, PA 15261</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><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><affiliation wicri:level="4"><inist:fA14 i1="03"><s1>Department of Pediatrics, University of Pittsburgh, 130 DeSoto Street</s1><s2>Pittsburgh, PA 15261</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></analytic><series><title level="j" type="main">Human molecular genetics</title><title level="j" type="abbreviated">Hum. mol. genet.</title><idno type="ISSN">0964-6906</idno><imprint><date when="1998">1998</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Human molecular genetics</title><title level="j" type="abbreviated">Hum. mol. genet.</title><idno type="ISSN">0964-6906</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Biological receptor</term><term>Chromosome B5</term><term>Family study</term><term>Gene</term><term>Genetic mapping</term><term>Heterogeneity</term><term>Human</term><term>Linkage</term><term>Lymphedema</term><term>Mutation</term><term>Vascular endothelium growth factor</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Homme</term><term>Chromosome B5</term><term>Carte génétique</term><term>Liaison génétique</term><term>Hétérogénéité</term><term>Etude familiale</term><term>Récepteur biologique</term><term>Facteur croissance endothélium vasculaire</term><term>Gène</term><term>Mutation</term><term>Lymphoedème</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Hereditary or primary lymphedema is a developmental disorder of the lymphatic system which leads to a disabling and disfiguring swelling of the extremities. Hereditary lymphedema generally shows an autosomal dominant pattern of inheritance with reduced penetrance, variable expression and variable age at onset. Three multigeneration families demonstrating the phenotype of hereditary lymphedema segregating as an autosomal dominant trait with incomplete penetrance were genotyped for 366 autosomal markers. Linkage analysis yielded a two-point LOD score of 6.1 at θ = 0.0 for marker D5S1354and a maximum multipoint LOD score of 8.8 at marker D5S1354 located at chromosome 5q34-q35. Linkage analysis in two additional families using markers from the linked region showed one family consistent for linkage to distal chromosome 5. In the second family, linkage to 5q was excluded for all markers in the region with LOD scores Z< -2.0. The vascular endothelial growth factor C receptor (FLT4) was mapped to the linked region, and partial sequence analysis identified a G→A transition at nucleotide position 3360 of the FLT4 cDNA, predicting a leucine for proline substitution at residue 1126 of the mature receptor in one nuclear family. This study localizes a gene for primary lymphedema to distal chromosome 5q, identifies a plausible candidate gene in the linked region, and provides evidence for a second, unlinked locus for primary lymphedema.</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Pennsylvanie</li></region><settlement><li>Pittsburgh</li></settlement><orgName><li>Université de Pittsburgh</li></orgName></list><tree><country name="États-Unis"><region name="Pennsylvanie"><name sortKey="Ferrell, R E" sort="Ferrell, R E" uniqKey="Ferrell R" first="R. E." last="Ferrell">R. E. Ferrell</name></region><name sortKey="Barmada, M M" sort="Barmada, M M" uniqKey="Barmada M" first="M. M." last="Barmada">M. M. Barmada</name><name sortKey="Esman, J H" sort="Esman, J H" uniqKey="Esman J" first="J. H." last="Esman">J. H. Esman</name><name sortKey="Finegold, D N" sort="Finegold, D N" uniqKey="Finegold D" first="D. N." last="Finegold">D. N. Finegold</name><name sortKey="Finegold, D N" sort="Finegold, D N" uniqKey="Finegold D" first="D. N." last="Finegold">D. N. Finegold</name><name sortKey="Kimak, M A" sort="Kimak, M A" uniqKey="Kimak M" first="M. A." last="Kimak">M. A. Kimak</name><name sortKey="Lawrence, E C" sort="Lawrence, E C" uniqKey="Lawrence E" first="E. C." last="Lawrence">E. C. Lawrence</name><name sortKey="Levinson, K L" sort="Levinson, K L" uniqKey="Levinson K" first="K. L." last="Levinson">K. L. Levinson</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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