LymphedemaV1, PascalFrancis, Checkpoint, bibRecord, 000A82

Hereditary lymphedema : evidence for linkage and genetic heterogeneity

Identifieur interne : 000A82 ( PascalFrancis/Checkpoint ); précédent : 000A81; suivant : 000A83

Hereditary 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.

RBID : Pascal:99-0094207

Descripteurs français

Pascal (Inist)
- Homme, Chromosome B5, Carte génétique, Liaison génétique, Hétérogénéité, Etude familiale, Récepteur biologique, Facteur croissance endothélium vasculaire, Gène, Mutation, Lymphoedème.
Wicri :
- topic : Homme.

English descriptors

KwdEn :
- Biological receptor, Chromosome B5, Family study, Gene, Genetic mapping, Heterogeneity, Human, Linkage, Lymphedema, Mutation, Vascular endothelium growth factor.

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.

Affiliations:

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Le document en format XML

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<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>
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<fC01 i1="01" l="ENG"><s0>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.</s0>
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<fC03 i1="04" i2="X" l="FRE"><s0>Liaison génétique</s0>
<s5>05</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Linkage</s0>
<s5>05</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Ligamiento genético</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Hétérogénéité</s0>
<s5>06</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Heterogeneity</s0>
<s5>06</s5>
</fC03>
<fC03 i1="05" i2="X" l="GER"><s0>Ungleichartigkeit</s0>
<s5>06</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Heterogeneidad</s0>
<s5>06</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Etude familiale</s0>
<s5>07</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Family study</s0>
<s5>07</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Estudio familiar</s0>
<s5>07</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE"><s0>Récepteur biologique</s0>
<s5>08</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG"><s0>Biological receptor</s0>
<s5>08</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA"><s0>Receptor biológico</s0>
<s5>08</s5>
</fC03>
<fC03 i1="08" i2="X" l="FRE"><s0>Facteur croissance endothélium vasculaire</s0>
<s5>09</s5>
</fC03>
<fC03 i1="08" i2="X" l="ENG"><s0>Vascular endothelium growth factor</s0>
<s5>09</s5>
</fC03>
<fC03 i1="08" i2="X" l="SPA"><s0>Factor crecimiento endotelio vascular</s0>
<s5>09</s5>
</fC03>
<fC03 i1="09" i2="X" l="FRE"><s0>Gène</s0>
<s5>10</s5>
</fC03>
<fC03 i1="09" i2="X" l="ENG"><s0>Gene</s0>
<s5>10</s5>
</fC03>
<fC03 i1="09" i2="X" l="SPA"><s0>Gen</s0>
<s5>10</s5>
</fC03>
<fC03 i1="10" i2="X" l="FRE"><s0>Mutation</s0>
<s5>11</s5>
</fC03>
<fC03 i1="10" i2="X" l="ENG"><s0>Mutation</s0>
<s5>11</s5>
</fC03>
<fC03 i1="10" i2="X" l="SPA"><s0>Mutación</s0>
<s5>11</s5>
</fC03>
<fC03 i1="11" i2="X" l="FRE"><s0>Lymphoedème</s0>
<s5>15</s5>
</fC03>
<fC03 i1="11" i2="X" l="ENG"><s0>Lymphedema</s0>
<s5>15</s5>
</fC03>
<fC03 i1="11" i2="X" l="SPA"><s0>Linfedema</s0>
<s5>15</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Appareil circulatoire pathologie</s0>
<s5>58</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Cardiovascular disease</s0>
<s5>58</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Aparato circulatorio patología</s0>
<s5>58</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Lymphatique pathologie</s0>
<s5>59</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Lymphatic vessel disease</s0>
<s5>59</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Linfático patología</s0>
<s5>59</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Maladie héréditaire</s0>
<s5>60</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Genetic disease</s0>
<s5>60</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Enfermedad hereditaria</s0>
<s5>60</s5>
</fC07>
<fN21><s1>053</s1>
</fN21>
</pA>
</standard>
</inist>
<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>

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   |texte=   Hereditary lymphedema : evidence for linkage and genetic heterogeneity
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	Serveur d'exploration sur le lymphœdème
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Serveur d'exploration sur le lymphœdème

Hereditary lymphedema : evidence for linkage and genetic heterogeneity

Hereditary lymphedema : evidence for linkage and genetic heterogeneity

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