LymphedemaV1, Main, Merge, bibRecord, 00B622

Mapping of primary congenital lymphedema to the 5q35.3 region

Identifieur interne : 00B622 ( Main/Merge ); précédent : 00B621; suivant : 00B623

Mapping of primary congenital lymphedema to the 5q35.3 region

Auteurs : A. L. Evans [Royaume-Uni, États-Unis] ; G. Brice [Royaume-Uni] ; V. Sotirova [États-Unis] ; Peter Mortimer (dermatologue)‎ [Royaume-Uni] ; J. Beninson [États-Unis] ; K. Burnand [Royaume-Uni] ; J. Rosbotham [Royaume-Uni] ; A. Child [Royaume-Uni] ; M. Sarfarazi [États-Unis]

Source :

American journal of human genetics [ 0002-9297 ] ; 1999.

RBID : Pascal:99-0160048

Descripteurs français

Pascal (Inist)
- Lymphoedème, Etude familiale, Caractère autosomique, Caractère dominant, Homme, Liaison génétique, Chromosome B5, Déterminisme génétique, Haplotype, Gène, Locus, Carte génétique.
Wicri :
- topic : Homme.

English descriptors

KwdEn :
- Autosomal character, Chromosome B5, Dominant character, Family study, Gene, Genetic determinism, Genetic mapping, Haplotype, Human, Linkage, Locus, Lymphedema.

Abstract

Primary lymphedema is a chronic tissue swelling, most frequently of the lower limbs, resulting from deficient lymphatic drainage. The variability of the affected phenotype, incomplete penetrance, lack of large families, and possible genetic heterogeneity have hampered the identification of causative genes until now. We carried out a genomewide search, using a four-generation North American family with dominantly inherited primary congenital lymphedema (PCL), otherwise known as "Milroy disease," or "hereditary lymphedema type I" (MIM 153100). Linkage to markers from the 5q35.3 region in this and four additional, British families was established. A minimum of 79 directly scorable haplotypes (37 affected) in five families conspicuously segregated with the most telomeric region of 5q35.3, thus suggesting a major locus for PCL in this vicinity. No recombination was observed with D5S408 (Z = 10.03) and D5S2006 (Z = 8.46) with a combined multipoint score of 16.55. While D5S2073 and WIAF-2213 defined the upper centromeric boundary, no recombinants were obtained for the last telomeric marker of D5S2006. Four unaffected subjects were identified as gene carriers and provided an estimated penetrance ratio of.84 for this condition. A few of the positionally mapped genes in the 5q35 region that may potentially be involved in the etiology of this condition are CANX, FGFR4, HK3, and hnRPH1.

Links toward previous steps (curation, corpus...)

to stream PascalFrancis, to step Corpus: 000A20
to stream PascalFrancis, to step Curation: 001088
to stream PascalFrancis, to step Checkpoint: 000980

Links to Exploration step

Pascal:99-0160048

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Mapping of primary congenital lymphedema to the 5q35.3 region</title>
<author><name sortKey="Evans, A L" sort="Evans, A L" uniqKey="Evans A" first="A. L." last="Evans">A. L. Evans</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Cardiological of Sciences, St. George's Hospital Medical School</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><inist:fA14 i1="02"><s1>Surgical Research Center, Department of Surgery, University of Connecticut Health Center</s1>
<s2>Farmington, CT</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Connecticut</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Brice, G" sort="Brice, G" uniqKey="Brice G" first="G." last="Brice">G. Brice</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Cardiological of Sciences, St. George's Hospital Medical School</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sotirova, V" sort="Sotirova, V" uniqKey="Sotirova V" first="V." last="Sotirova">V. Sotirova</name>
<affiliation wicri:level="2"><inist:fA14 i1="02"><s1>Surgical Research Center, Department of Surgery, University of Connecticut Health Center</s1>
<s2>Farmington, CT</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Connecticut</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mortimer, P" sort="Mortimer, P" uniqKey="Mortimer P" first="P." last="Mortimer">Peter Mortimer (dermatologue)‎</name>
<affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Medicine (Dermatology), St. George's Hospital Medical School</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>4 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
<orgName type="university">Université de Londres</orgName>
</affiliation>
</author>
<author><name sortKey="Beninson, J" sort="Beninson, J" uniqKey="Beninson J" first="J." last="Beninson">J. Beninson</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Dermatology, Henry Ford Hospital</s1>
<s2>Detroit</s2>
<s3>USA</s3>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Detroit</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Burnand, K" sort="Burnand, K" uniqKey="Burnand K" first="K." last="Burnand">K. Burnand</name>
<affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Department of Academic Surgery, St. Thomas's Hospital</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Rosbotham, J" sort="Rosbotham, J" uniqKey="Rosbotham J" first="J." last="Rosbotham">J. Rosbotham</name>
<affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Medicine (Dermatology), St. George's Hospital Medical School</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>4 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Child, A" sort="Child, A" uniqKey="Child A" first="A." last="Child">A. Child</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Cardiological of Sciences, St. George's Hospital Medical School</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sarfarazi, M" sort="Sarfarazi, M" uniqKey="Sarfarazi M" first="M." last="Sarfarazi">M. Sarfarazi</name>
<affiliation wicri:level="2"><inist:fA14 i1="02"><s1>Surgical Research Center, Department of Surgery, University of Connecticut Health Center</s1>
<s2>Farmington, CT</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Connecticut</region>
</placeName>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">99-0160048</idno>
<date when="1999">1999</date>
<idno type="stanalyst">PASCAL 99-0160048 INIST</idno>
<idno type="RBID">Pascal:99-0160048</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">000A20</idno>
<idno type="wicri:Area/PascalFrancis/Curation">001088</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">000980</idno>
<idno type="wicri:explorRef" wicri:stream="PascalFrancis" wicri:step="Checkpoint">000980</idno>
<idno type="wicri:doubleKey">0002-9297:1999:Evans A:mapping:of:primary</idno>
<idno type="wicri:Area/Main/Merge">00B622</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Mapping of primary congenital lymphedema to the 5q35.3 region</title>
<author><name sortKey="Evans, A L" sort="Evans, A L" uniqKey="Evans A" first="A. L." last="Evans">A. L. Evans</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Cardiological of Sciences, St. George's Hospital Medical School</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><inist:fA14 i1="02"><s1>Surgical Research Center, Department of Surgery, University of Connecticut Health Center</s1>
<s2>Farmington, CT</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Connecticut</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Brice, G" sort="Brice, G" uniqKey="Brice G" first="G." last="Brice">G. Brice</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Cardiological of Sciences, St. George's Hospital Medical School</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sotirova, V" sort="Sotirova, V" uniqKey="Sotirova V" first="V." last="Sotirova">V. Sotirova</name>
<affiliation wicri:level="2"><inist:fA14 i1="02"><s1>Surgical Research Center, Department of Surgery, University of Connecticut Health Center</s1>
<s2>Farmington, CT</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Connecticut</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mortimer, P" sort="Mortimer, P" uniqKey="Mortimer P" first="P." last="Mortimer">Peter Mortimer (dermatologue)‎</name>
<affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Medicine (Dermatology), St. George's Hospital Medical School</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>4 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
<orgName type="university">Université de Londres</orgName>
</affiliation>
</author>
<author><name sortKey="Beninson, J" sort="Beninson, J" uniqKey="Beninson J" first="J." last="Beninson">J. Beninson</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Dermatology, Henry Ford Hospital</s1>
<s2>Detroit</s2>
<s3>USA</s3>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Detroit</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Burnand, K" sort="Burnand, K" uniqKey="Burnand K" first="K." last="Burnand">K. Burnand</name>
<affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Department of Academic Surgery, St. Thomas's Hospital</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Rosbotham, J" sort="Rosbotham, J" uniqKey="Rosbotham J" first="J." last="Rosbotham">J. Rosbotham</name>
<affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Medicine (Dermatology), St. George's Hospital Medical School</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>4 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Child, A" sort="Child, A" uniqKey="Child A" first="A." last="Child">A. Child</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Cardiological of Sciences, St. George's Hospital Medical School</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sarfarazi, M" sort="Sarfarazi, M" uniqKey="Sarfarazi M" first="M." last="Sarfarazi">M. Sarfarazi</name>
<affiliation wicri:level="2"><inist:fA14 i1="02"><s1>Surgical Research Center, Department of Surgery, University of Connecticut Health Center</s1>
<s2>Farmington, CT</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Connecticut</region>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">American journal of human genetics</title>
<title level="j" type="abbreviated">Am. j. hum. genet.</title>
<idno type="ISSN">0002-9297</idno>
<imprint><date when="1999">1999</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">American journal of human genetics</title>
<title level="j" type="abbreviated">Am. j. hum. genet.</title>
<idno type="ISSN">0002-9297</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Autosomal character</term>
<term>Chromosome B5</term>
<term>Dominant character</term>
<term>Family study</term>
<term>Gene</term>
<term>Genetic determinism</term>
<term>Genetic mapping</term>
<term>Haplotype</term>
<term>Human</term>
<term>Linkage</term>
<term>Locus</term>
<term>Lymphedema</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Lymphoedème</term>
<term>Etude familiale</term>
<term>Caractère autosomique</term>
<term>Caractère dominant</term>
<term>Homme</term>
<term>Liaison génétique</term>
<term>Chromosome B5</term>
<term>Déterminisme génétique</term>
<term>Haplotype</term>
<term>Gène</term>
<term>Locus</term>
<term>Carte génétique</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Primary lymphedema is a chronic tissue swelling, most frequently of the lower limbs, resulting from deficient lymphatic drainage. The variability of the affected phenotype, incomplete penetrance, lack of large families, and possible genetic heterogeneity have hampered the identification of causative genes until now. We carried out a genomewide search, using a four-generation North American family with dominantly inherited primary congenital lymphedema (PCL), otherwise known as "Milroy disease," or "hereditary lymphedema type I" (MIM 153100). Linkage to markers from the 5q35.3 region in this and four additional, British families was established. A minimum of 79 directly scorable haplotypes (37 affected) in five families conspicuously segregated with the most telomeric region of 5q35.3, thus suggesting a major locus for PCL in this vicinity. No recombination was observed with D5S408 (Z = 10.03) and D5S2006 (Z = 8.46) with a combined multipoint score of 16.55. While D5S2073 and WIAF-2213 defined the upper centromeric boundary, no recombinants were obtained for the last telomeric marker of D5S2006. Four unaffected subjects were identified as gene carriers and provided an estimated penetrance ratio of.84 for this condition. A few of the positionally mapped genes in the 5q35 region that may potentially be involved in the etiology of this condition are CANX, FGFR4, HK3, and hnRPH1.</div>
</front>
</TEI>
<affiliations><list><country><li>Royaume-Uni</li>
<li>États-Unis</li>
</country>
<region><li>Angleterre</li>
<li>Connecticut</li>
<li>Grand Londres</li>
</region>
<settlement><li>Londres</li>
</settlement>
<orgName><li>Université de Londres</li>
</orgName>
</list>
<tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Evans, A L" sort="Evans, A L" uniqKey="Evans A" first="A. L." last="Evans">A. L. Evans</name>
</region>
<name sortKey="Brice, G" sort="Brice, G" uniqKey="Brice G" first="G." last="Brice">G. Brice</name>
<name sortKey="Burnand, K" sort="Burnand, K" uniqKey="Burnand K" first="K." last="Burnand">K. Burnand</name>
<name sortKey="Child, A" sort="Child, A" uniqKey="Child A" first="A." last="Child">A. Child</name>
<name sortKey="Mortimer, P" sort="Mortimer, P" uniqKey="Mortimer P" first="P." last="Mortimer">Peter Mortimer (dermatologue)‎</name>
<name sortKey="Rosbotham, J" sort="Rosbotham, J" uniqKey="Rosbotham J" first="J." last="Rosbotham">J. Rosbotham</name>
</country>
<country name="États-Unis"><region name="Connecticut"><name sortKey="Evans, A L" sort="Evans, A L" uniqKey="Evans A" first="A. L." last="Evans">A. L. Evans</name>
</region>
<name sortKey="Beninson, J" sort="Beninson, J" uniqKey="Beninson J" first="J." last="Beninson">J. Beninson</name>
<name sortKey="Sarfarazi, M" sort="Sarfarazi, M" uniqKey="Sarfarazi M" first="M." last="Sarfarazi">M. Sarfarazi</name>
<name sortKey="Sotirova, V" sort="Sotirova, V" uniqKey="Sotirova V" first="V." last="Sotirova">V. Sotirova</name>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Main/Merge

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 00B622 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Merge/biblio.hfd -nk 00B622 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Sante
   |area=    LymphedemaV1
   |flux=    Main
   |étape=   Merge
   |type=    RBID
   |clé=     Pascal:99-0160048
   |texte=   Mapping of primary congenital lymphedema to the 5q35.3 region
}}

This area was generated with Dilib version V0.6.31.
Data generation: Sat Nov 4 17:40:35 2017. Site generation: Tue Feb 13 16:42:16 2024

	Serveur d'exploration sur le lymphœdème
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.

Serveur d'exploration sur le lymphœdème

Mapping of primary congenital lymphedema to the 5q35.3 region

Mapping of primary congenital lymphedema to the 5q35.3 region

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri