Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.
Identifieur interne : 006148 ( Main/Exploration ); précédent : 006147; suivant : 006149Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.
Auteurs : Marielle Alders [Pays-Bas] ; Benjamin M. Hogan ; Evisa Gjini ; Faranak Salehi ; Lihadh Al-Gazali ; Eric A. Hennekam ; Eva E. Holmberg ; Marcel M A M. Mannens ; Margot F. Mulder ; G Johan A. Offerhaus ; Trine E. Prescott ; Eelco J. Schroor ; Joke B G M. Verheij ; Merlijn Witte ; Petra J. Zwijnenburg ; Mikka Vikkula ; Stefan Schulte-Merker ; Raoul C. HennekamSource :
- Nature genetics [ 1546-1718 ] ; 2009.
Descripteurs français
- KwdFr :
- Animaux, Consanguinité, Données de séquences moléculaires, Déficience intellectuelle (génétique), Gènes récessifs, Humains, Hétérozygote, Jeune adulte, Lymphangiectasie (génétique), Lymphoedème (génétique), Malformations multiples (génétique), Mutation, Mâle, Pedigree, Phénotype, Syndrome, Séquence d'acides aminés.
- MESH :
English descriptors
- KwdEn :
- MESH :
Abstract
Lymphedema, lymphangiectasias, mental retardation and unusual facial characteristics define the autosomal recessive Hennekam syndrome. Homozygosity mapping identified a critical chromosomal region containing CCBE1, the human ortholog of a gene essential for lymphangiogenesis in zebrafish. Homozygous and compound heterozygous mutations in seven subjects paired with functional analysis in a zebrafish model identify CCBE1 as one of few genes causing primary generalized lymph-vessel dysplasia in humans.
DOI: 10.1038/ng.484
PubMed: 19935664
Affiliations:
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Hogan</name></author><author><name sortKey="Gjini, Evisa" sort="Gjini, Evisa" uniqKey="Gjini E" first="Evisa" last="Gjini">Evisa Gjini</name></author><author><name sortKey="Salehi, Faranak" sort="Salehi, Faranak" uniqKey="Salehi F" first="Faranak" last="Salehi">Faranak Salehi</name></author><author><name sortKey="Al Gazali, Lihadh" sort="Al Gazali, Lihadh" uniqKey="Al Gazali L" first="Lihadh" last="Al-Gazali">Lihadh Al-Gazali</name></author><author><name sortKey="Hennekam, Eric A" sort="Hennekam, Eric A" uniqKey="Hennekam E" first="Eric A" last="Hennekam">Eric A. Hennekam</name></author><author><name sortKey="Holmberg, Eva E" sort="Holmberg, Eva E" uniqKey="Holmberg E" first="Eva E" last="Holmberg">Eva E. Holmberg</name></author><author><name sortKey="Mannens, Marcel M A M" sort="Mannens, Marcel M A M" uniqKey="Mannens M" first="Marcel M A M" last="Mannens">Marcel M A M. Mannens</name></author><author><name sortKey="Mulder, Margot F" sort="Mulder, Margot F" uniqKey="Mulder M" first="Margot F" last="Mulder">Margot F. Mulder</name></author><author><name sortKey="Offerhaus, G Johan A" sort="Offerhaus, G Johan A" uniqKey="Offerhaus G" first="G Johan A" last="Offerhaus">G Johan A. Offerhaus</name></author><author><name sortKey="Prescott, Trine E" sort="Prescott, Trine E" uniqKey="Prescott T" first="Trine E" last="Prescott">Trine E. Prescott</name></author><author><name sortKey="Schroor, Eelco J" sort="Schroor, Eelco J" uniqKey="Schroor E" first="Eelco J" last="Schroor">Eelco J. Schroor</name></author><author><name sortKey="Verheij, Joke B G M" sort="Verheij, Joke B G M" uniqKey="Verheij J" first="Joke B G M" last="Verheij">Joke B G M. 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Hennekam</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2009">2009</date><idno type="RBID">pubmed:19935664</idno><idno type="pmid">19935664</idno><idno type="doi">10.1038/ng.484</idno><idno type="wicri:Area/PubMed/Corpus">002C66</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">002C66</idno><idno type="wicri:Area/PubMed/Curation">002C66</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">002C66</idno><idno type="wicri:Area/PubMed/Checkpoint">002C66</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">002C66</idno><idno type="wicri:Area/Ncbi/Merge">003757</idno><idno type="wicri:Area/Ncbi/Curation">003757</idno><idno type="wicri:Area/Ncbi/Checkpoint">003757</idno><idno type="wicri:Area/Main/Merge">006221</idno><idno type="wicri:Area/Main/Curation">006148</idno><idno type="wicri:Area/Main/Exploration">006148</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.</title><author><name sortKey="Alders, Marielle" sort="Alders, Marielle" uniqKey="Alders M" first="Marielle" last="Alders">Marielle Alders</name><affiliation wicri:level="3"><nlm:affiliation>Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, Academic Medical Centre, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Hogan, Benjamin M" sort="Hogan, Benjamin M" uniqKey="Hogan B" first="Benjamin M" last="Hogan">Benjamin M. Hogan</name></author><author><name sortKey="Gjini, Evisa" sort="Gjini, Evisa" uniqKey="Gjini E" first="Evisa" last="Gjini">Evisa Gjini</name></author><author><name sortKey="Salehi, Faranak" sort="Salehi, Faranak" uniqKey="Salehi F" first="Faranak" last="Salehi">Faranak Salehi</name></author><author><name sortKey="Al Gazali, Lihadh" sort="Al Gazali, Lihadh" uniqKey="Al Gazali L" first="Lihadh" last="Al-Gazali">Lihadh Al-Gazali</name></author><author><name sortKey="Hennekam, Eric A" sort="Hennekam, Eric A" uniqKey="Hennekam E" first="Eric A" last="Hennekam">Eric A. Hennekam</name></author><author><name sortKey="Holmberg, Eva E" sort="Holmberg, Eva E" uniqKey="Holmberg E" first="Eva E" last="Holmberg">Eva E. Holmberg</name></author><author><name sortKey="Mannens, Marcel M A M" sort="Mannens, Marcel M A M" uniqKey="Mannens M" first="Marcel M A M" last="Mannens">Marcel M A M. Mannens</name></author><author><name sortKey="Mulder, Margot F" sort="Mulder, Margot F" uniqKey="Mulder M" first="Margot F" last="Mulder">Margot F. Mulder</name></author><author><name sortKey="Offerhaus, G Johan A" sort="Offerhaus, G Johan A" uniqKey="Offerhaus G" first="G Johan A" last="Offerhaus">G Johan A. Offerhaus</name></author><author><name sortKey="Prescott, Trine E" sort="Prescott, Trine E" uniqKey="Prescott T" first="Trine E" last="Prescott">Trine E. Prescott</name></author><author><name sortKey="Schroor, Eelco J" sort="Schroor, Eelco J" uniqKey="Schroor E" first="Eelco J" last="Schroor">Eelco J. Schroor</name></author><author><name sortKey="Verheij, Joke B G M" sort="Verheij, Joke B G M" uniqKey="Verheij J" first="Joke B G M" last="Verheij">Joke B G M. Verheij</name></author><author><name sortKey="Witte, Merlijn" sort="Witte, Merlijn" uniqKey="Witte M" first="Merlijn" last="Witte">Merlijn Witte</name></author><author><name sortKey="Zwijnenburg, Petra J" sort="Zwijnenburg, Petra J" uniqKey="Zwijnenburg P" first="Petra J" last="Zwijnenburg">Petra J. Zwijnenburg</name></author><author><name sortKey="Vikkula, Mikka" sort="Vikkula, Mikka" uniqKey="Vikkula M" first="Mikka" last="Vikkula">Mikka Vikkula</name></author><author><name sortKey="Schulte Merker, Stefan" sort="Schulte Merker, Stefan" uniqKey="Schulte Merker S" first="Stefan" last="Schulte-Merker">Stefan Schulte-Merker</name></author><author><name sortKey="Hennekam, Raoul C" sort="Hennekam, Raoul C" uniqKey="Hennekam R" first="Raoul C" last="Hennekam">Raoul C. Hennekam</name></author></analytic><series><title level="j">Nature genetics</title><idno type="eISSN">1546-1718</idno><imprint><date when="2009" type="published">2009</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Abnormalities, Multiple (genetics)</term><term>Amino Acid Sequence</term><term>Animals</term><term>Consanguinity</term><term>Genes, Recessive</term><term>Heterozygote</term><term>Humans</term><term>Intellectual Disability (genetics)</term><term>Lymphangiectasis (genetics)</term><term>Lymphedema (genetics)</term><term>Male</term><term>Molecular Sequence Data</term><term>Mutation</term><term>Pedigree</term><term>Phenotype</term><term>Syndrome</term><term>Young Adult</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Animaux</term><term>Consanguinité</term><term>Données de séquences moléculaires</term><term>Déficience intellectuelle (génétique)</term><term>Gènes récessifs</term><term>Humains</term><term>Hétérozygote</term><term>Jeune adulte</term><term>Lymphangiectasie (génétique)</term><term>Lymphoedème (génétique)</term><term>Malformations multiples (génétique)</term><term>Mutation</term><term>Mâle</term><term>Pedigree</term><term>Phénotype</term><term>Syndrome</term><term>Séquence d'acides aminés</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Abnormalities, Multiple</term><term>Intellectual Disability</term><term>Lymphangiectasis</term><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Déficience intellectuelle</term><term>Lymphangiectasie</term><term>Lymphoedème</term><term>Malformations multiples</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Amino Acid Sequence</term><term>Animals</term><term>Consanguinity</term><term>Genes, Recessive</term><term>Heterozygote</term><term>Humans</term><term>Male</term><term>Molecular Sequence Data</term><term>Mutation</term><term>Pedigree</term><term>Phenotype</term><term>Syndrome</term><term>Young Adult</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Animaux</term><term>Consanguinité</term><term>Données de séquences moléculaires</term><term>Gènes récessifs</term><term>Humains</term><term>Hétérozygote</term><term>Jeune adulte</term><term>Mutation</term><term>Mâle</term><term>Pedigree</term><term>Phénotype</term><term>Syndrome</term><term>Séquence d'acides aminés</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Lymphedema, lymphangiectasias, mental retardation and unusual facial characteristics define the autosomal recessive Hennekam syndrome. Homozygosity mapping identified a critical chromosomal region containing CCBE1, the human ortholog of a gene essential for lymphangiogenesis in zebrafish. Homozygous and compound heterozygous mutations in seven subjects paired with functional analysis in a zebrafish model identify CCBE1 as one of few genes causing primary generalized lymph-vessel dysplasia in humans.</div></front></TEI><affiliations><list><country><li>Pays-Bas</li></country><region><li>Hollande-Septentrionale</li></region><settlement><li>Amsterdam</li></settlement></list><tree><noCountry><name sortKey="Al Gazali, Lihadh" sort="Al Gazali, Lihadh" uniqKey="Al Gazali L" first="Lihadh" last="Al-Gazali">Lihadh Al-Gazali</name><name sortKey="Gjini, Evisa" sort="Gjini, Evisa" uniqKey="Gjini E" first="Evisa" last="Gjini">Evisa Gjini</name><name sortKey="Hennekam, Eric A" sort="Hennekam, Eric A" uniqKey="Hennekam E" first="Eric A" last="Hennekam">Eric A. Hennekam</name><name sortKey="Hennekam, Raoul C" sort="Hennekam, Raoul C" uniqKey="Hennekam R" first="Raoul C" last="Hennekam">Raoul C. Hennekam</name><name sortKey="Hogan, Benjamin M" sort="Hogan, Benjamin M" uniqKey="Hogan B" first="Benjamin M" last="Hogan">Benjamin M. Hogan</name><name sortKey="Holmberg, Eva E" sort="Holmberg, Eva E" uniqKey="Holmberg E" first="Eva E" last="Holmberg">Eva E. Holmberg</name><name sortKey="Mannens, Marcel M A M" sort="Mannens, Marcel M A M" uniqKey="Mannens M" first="Marcel M A M" last="Mannens">Marcel M A M. Mannens</name><name sortKey="Mulder, Margot F" sort="Mulder, Margot F" uniqKey="Mulder M" first="Margot F" last="Mulder">Margot F. Mulder</name><name sortKey="Offerhaus, G Johan A" sort="Offerhaus, G Johan A" uniqKey="Offerhaus G" first="G Johan A" last="Offerhaus">G Johan A. Offerhaus</name><name sortKey="Prescott, Trine E" sort="Prescott, Trine E" uniqKey="Prescott T" first="Trine E" last="Prescott">Trine E. Prescott</name><name sortKey="Salehi, Faranak" sort="Salehi, Faranak" uniqKey="Salehi F" first="Faranak" last="Salehi">Faranak Salehi</name><name sortKey="Schroor, Eelco J" sort="Schroor, Eelco J" uniqKey="Schroor E" first="Eelco J" last="Schroor">Eelco J. Schroor</name><name sortKey="Schulte Merker, Stefan" sort="Schulte Merker, Stefan" uniqKey="Schulte Merker S" first="Stefan" last="Schulte-Merker">Stefan Schulte-Merker</name><name sortKey="Verheij, Joke B G M" sort="Verheij, Joke B G M" uniqKey="Verheij J" first="Joke B G M" last="Verheij">Joke B G M. Verheij</name><name sortKey="Vikkula, Mikka" sort="Vikkula, Mikka" uniqKey="Vikkula M" first="Mikka" last="Vikkula">Mikka Vikkula</name><name sortKey="Witte, Merlijn" sort="Witte, Merlijn" uniqKey="Witte M" first="Merlijn" last="Witte">Merlijn Witte</name><name sortKey="Zwijnenburg, Petra J" sort="Zwijnenburg, Petra J" uniqKey="Zwijnenburg P" first="Petra J" last="Zwijnenburg">Petra J. Zwijnenburg</name></noCountry><country name="Pays-Bas"><region name="Hollande-Septentrionale"><name sortKey="Alders, Marielle" sort="Alders, Marielle" uniqKey="Alders M" first="Marielle" last="Alders">Marielle Alders</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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