Mapping of Primary Congenital Lymphedema to the 5q35.3 Region
Identifieur interne : 00AD84 ( Main/Exploration ); précédent : 00AD83; suivant : 00AD85Mapping of Primary Congenital Lymphedema to the 5q35.3 Region
Auteurs : Alison L. Evans [Royaume-Uni] ; Glen Brice [Royaume-Uni] ; Vihra Sotirova [États-Unis] ; Peter Mortimer (dermatologue) [Royaume-Uni] ; Joseph Beninson ; Kevin Burnand [Royaume-Uni] ; Jane Rosbotham [Royaume-Uni] ; Anne Child [Royaume-Uni] ; Mansoor Sarfarazi [États-Unis]Source :
- The American Journal of Human Genetics [ 0002-9297 ] ; 1999.
Descripteurs français
- KwdFr :
- MESH :
- génétique : Lymphoedème.
- physiopathologie : Lymphoedème.
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
- Autosomal character, Chromosome 5q35.3, Chromosome B5, Chromosome Mapping, Chromosomes, Human, Pair 5, Dominant character, Family study, Female, Gene, Genetic determinism, Genetic mapping, Haplotype, Human, Humans, Linkage, Locus, Lymphedema, Lymphedema (congenital), Lymphedema (genetics), Lymphedema (physiopathology), Lymphedema, early onset, Lymphedema, hereditary I, Male, Milroy disease, Nonne-Milroy lymphedema, Pedigree, Primary congenital lymphedema.
- MESH :
- congenital : Lymphedema.
- genetics : Lymphedema.
- physiopathology : Lymphedema.
- Chromosome Mapping, Chromosomes, Human, Pair 5, Female, Humans, Male, Pedigree.
Abstract
SummaryPrimary 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.
Url:
- https://api.istex.fr/document/B1AE10EF5D6C2E7B5C6AFC13F14BC5CA56732520/fulltext/pdf
- http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1377764
DOI: 10.1086/302248
Affiliations:
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type="state">Connecticut</region></placeName><wicri:cityArea>Surgical Research Center, Department of Surgery, University of Connecticut Health Center, Farmington</wicri:cityArea></affiliation></author><author><name sortKey="Mortimer, Peter" sort="Mortimer, Peter" uniqKey="Mortimer P" first="Peter" last="Mortimer">Peter Mortimer (dermatologue)</name><affiliation wicri:level="3"><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName><wicri:orgArea>Department of Medicine (Dermatology), St. George's Hospital Medical School, St. Thomas's Hospital</wicri:orgArea><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, Joseph" sort="Beninson, 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Londres</region></placeName><wicri:orgArea>Department of Medicine (Dermatology), St. George's Hospital Medical School, St. Thomas's Hospital</wicri:orgArea></affiliation></author><author><name sortKey="Child, Anne" sort="Child, Anne" uniqKey="Child A" first="Anne" last="Child">Anne Child</name><affiliation wicri:level="3"><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName><wicri:orgArea>Cardiological Sciences St. Thomas's Hospital</wicri:orgArea></affiliation></author><author><name sortKey="Sarfarazi, Mansoor" sort="Sarfarazi, Mansoor" uniqKey="Sarfarazi M" first="Mansoor" last="Sarfarazi">Mansoor Sarfarazi</name><affiliation wicri:level="1"><country wicri:rule="url">États-Unis</country></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Connecticut</region></placeName><wicri:cityArea>Surgical Research Center, Department of Surgery, University of Connecticut Health Center, Farmington</wicri:cityArea></affiliation></author></analytic><monogr></monogr><series><title level="j">The American Journal of Human Genetics</title><title level="j" type="abbrev">AJHG</title><idno type="ISSN">0002-9297</idno><imprint><publisher>ELSEVIER</publisher><date type="published" when="1999">1999</date><biblScope unit="volume">64</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="547">547</biblScope><biblScope unit="page" to="555">555</biblScope></imprint><idno type="ISSN">0002-9297</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0002-9297</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Autosomal character</term><term>Chromosome 5q35.3</term><term>Chromosome B5</term><term>Chromosome Mapping</term><term>Chromosomes, Human, Pair 5</term><term>Dominant character</term><term>Family study</term><term>Female</term><term>Gene</term><term>Genetic determinism</term><term>Genetic mapping</term><term>Haplotype</term><term>Human</term><term>Humans</term><term>Linkage</term><term>Locus</term><term>Lymphedema</term><term>Lymphedema (congenital)</term><term>Lymphedema (genetics)</term><term>Lymphedema (physiopathology)</term><term>Lymphedema, early onset</term><term>Lymphedema, hereditary I</term><term>Male</term><term>Milroy disease</term><term>Nonne-Milroy lymphedema</term><term>Pedigree</term><term>Primary congenital lymphedema</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Cartographie chromosomique</term><term>Chromosomes humains de la paire 5</term><term>Femelle</term><term>Humains</term><term>Lymphoedème ()</term><term>Lymphoedème (génétique)</term><term>Lymphoedème (physiopathologie)</term><term>Mâle</term><term>Pedigree</term></keywords><keywords scheme="MESH" qualifier="congenital" xml:lang="en"><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Lymphoedème</term></keywords><keywords scheme="MESH" qualifier="physiopathologie" xml:lang="fr"><term>Lymphoedème</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Lymphedema</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Chromosome Mapping</term><term>Chromosomes, Human, Pair 5</term><term>Female</term><term>Humans</term><term>Male</term><term>Pedigree</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Caractère autosomique</term><term>Caractère dominant</term><term>Carte génétique</term><term>Cartographie chromosomique</term><term>Chromosome B5</term><term>Chromosomes humains de la paire 5</term><term>Déterminisme génétique</term><term>Etude familiale</term><term>Femelle</term><term>Gène</term><term>Haplotype</term><term>Homme</term><term>Humains</term><term>Liaison génétique</term><term>Locus</term><term>Lymphoedème</term><term>Mâle</term><term>Pedigree</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract">SummaryPrimary 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><noCountry><name sortKey="Beninson, Joseph" sort="Beninson, Joseph" uniqKey="Beninson J" first="Joseph" last="Beninson">Joseph Beninson</name></noCountry><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Evans, Alison L" sort="Evans, Alison L" uniqKey="Evans A" first="Alison L." last="Evans">Alison L. Evans</name></region><name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name><name sortKey="Burnand, Kevin" sort="Burnand, Kevin" uniqKey="Burnand K" first="Kevin" last="Burnand">Kevin Burnand</name><name sortKey="Child, Anne" sort="Child, Anne" uniqKey="Child A" first="Anne" last="Child">Anne Child</name><name sortKey="Mortimer, Peter" sort="Mortimer, Peter" uniqKey="Mortimer P" first="Peter" last="Mortimer">Peter Mortimer (dermatologue)</name><name sortKey="Rosbotham, Jane" sort="Rosbotham, Jane" uniqKey="Rosbotham J" first="Jane" last="Rosbotham">Jane Rosbotham</name></country><country name="États-Unis"><region name="Connecticut"><name sortKey="Sotirova, Vihra" sort="Sotirova, Vihra" uniqKey="Sotirova V" first="Vihra" last="Sotirova">Vihra Sotirova</name></region><name sortKey="Sarfarazi, Mansoor" sort="Sarfarazi, Mansoor" uniqKey="Sarfarazi M" first="Mansoor" last="Sarfarazi">Mansoor Sarfarazi</name><name sortKey="Sarfarazi, Mansoor" sort="Sarfarazi, Mansoor" uniqKey="Sarfarazi M" first="Mansoor" last="Sarfarazi">Mansoor Sarfarazi</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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