Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedema.
Identifieur interne : 001865 ( PubMed/Corpus ); précédent : 001864; suivant : 001866Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedema.
Auteurs : A. Mendola ; M J Schlögel ; A. Ghalamkarpour ; A. Irrthum ; H L Nguyen ; E. Fastré ; A. Bygum ; C. Van Der Vleuten ; C. Fagerberg ; E. Baselga ; I. Quere ; J B Mulliken ; L M Boon ; P. Brouillard ; M. VikkulaSource :
- Molecular syndromology [ 1661-8769 ] ; 2013.
Abstract
Lymphedema is caused by dysfunction of lymphatic vessels, leading to disabling swelling that occurs mostly on the extremities. Lymphedema can be either primary (congenital) or secondary (acquired). Familial primary lymphedema commonly segregates in an autosomal dominant or recessive manner. It can also occur in combination with other clinical features. Nine mutated genes have been identified in different isolated or syndromic forms of lymphedema. However, the prevalence of primary lymphedema that can be explained by these genetic alterations is unknown. In this study, we investigated 7 of these putative genes. We screened 78 index patients from families with inherited lymphedema for mutations in FLT4, GJC2, FOXC2, SOX18, GATA2, CCBE1, and PTPN14. Altogether, we discovered 28 mutations explaining 36% of the cases. Additionally, 149 patients with sporadic primary lymphedema were screened for FLT4, FOXC2, SOX18, CCBE1, and PTPN14. Twelve mutations were found that explain 8% of the cases. Still unidentified is the genetic cause of primary lymphedema in 64% of patients with a family history and 92% of sporadic cases. Identification of those genes is important for understanding of etiopathogenesis, stratification of treatments and generation of disease models. Interestingly, most of the proteins that are encoded by the genes mutated in primary lymphedema seem to act in a single functional pathway involving VEGFR3 signaling. This underscores the important role this pathway plays in lymphatic development and function and suggests that the unknown genes also have a role.
DOI: 10.1159/000354097
PubMed: 24167460
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Ghalamkarpour</name></author><author><name sortKey="Irrthum, A" sort="Irrthum, A" uniqKey="Irrthum A" first="A" last="Irrthum">A. Irrthum</name></author><author><name sortKey="Nguyen, H L" sort="Nguyen, H L" uniqKey="Nguyen H" first="H L" last="Nguyen">H L Nguyen</name></author><author><name sortKey="Fastre, E" sort="Fastre, E" uniqKey="Fastre E" first="E" last="Fastré">E. Fastré</name></author><author><name sortKey="Bygum, A" sort="Bygum, A" uniqKey="Bygum A" first="A" last="Bygum">A. Bygum</name></author><author><name sortKey="Van Der Vleuten, C" sort="Van Der Vleuten, C" uniqKey="Van Der Vleuten C" first="C" last="Van Der Vleuten">C. Van Der Vleuten</name></author><author><name sortKey="Fagerberg, C" sort="Fagerberg, C" uniqKey="Fagerberg C" first="C" last="Fagerberg">C. Fagerberg</name></author><author><name sortKey="Baselga, E" sort="Baselga, E" uniqKey="Baselga E" first="E" last="Baselga">E. Baselga</name></author><author><name sortKey="Quere, I" sort="Quere, I" uniqKey="Quere I" first="I" last="Quere">I. Quere</name></author><author><name sortKey="Mulliken, J B" sort="Mulliken, J B" uniqKey="Mulliken J" first="J B" last="Mulliken">J B Mulliken</name></author><author><name sortKey="Boon, L M" sort="Boon, L M" uniqKey="Boon L" first="L M" last="Boon">L M Boon</name></author><author><name sortKey="Brouillard, P" sort="Brouillard, P" uniqKey="Brouillard P" first="P" last="Brouillard">P. Brouillard</name></author><author><name sortKey="Vikkula, M" sort="Vikkula, M" uniqKey="Vikkula M" first="M" last="Vikkula">M. Vikkula</name></author></analytic><series><title level="j">Molecular syndromology</title><idno type="ISSN">1661-8769</idno><imprint><date when="2013" type="published">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Lymphedema is caused by dysfunction of lymphatic vessels, leading to disabling swelling that occurs mostly on the extremities. Lymphedema can be either primary (congenital) or secondary (acquired). Familial primary lymphedema commonly segregates in an autosomal dominant or recessive manner. It can also occur in combination with other clinical features. Nine mutated genes have been identified in different isolated or syndromic forms of lymphedema. However, the prevalence of primary lymphedema that can be explained by these genetic alterations is unknown. In this study, we investigated 7 of these putative genes. We screened 78 index patients from families with inherited lymphedema for mutations in FLT4, GJC2, FOXC2, SOX18, GATA2, CCBE1, and PTPN14. Altogether, we discovered 28 mutations explaining 36% of the cases. Additionally, 149 patients with sporadic primary lymphedema were screened for FLT4, FOXC2, SOX18, CCBE1, and PTPN14. Twelve mutations were found that explain 8% of the cases. Still unidentified is the genetic cause of primary lymphedema in 64% of patients with a family history and 92% of sporadic cases. Identification of those genes is important for understanding of etiopathogenesis, stratification of treatments and generation of disease models. Interestingly, most of the proteins that are encoded by the genes mutated in primary lymphedema seem to act in a single functional pathway involving VEGFR3 signaling. This underscores the important role this pathway plays in lymphatic development and function and suggests that the unknown genes also have a role.</div></front></TEI><pubmed><MedlineCitation Status="PubMed-not-MEDLINE" Owner="NLM"><PMID Version="1">24167460</PMID><DateCreated><Year>2013</Year><Month>10</Month><Day>29</Day></DateCreated><DateCompleted><Year>2013</Year><Month>10</Month><Day>29</Day></DateCompleted><DateRevised><Year>2017</Year><Month>02</Month><Day>20</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Print">1661-8769</ISSN><JournalIssue CitedMedium="Print"><Volume>4</Volume><Issue>6</Issue><PubDate><Year>2013</Year><Month>Sep</Month></PubDate></JournalIssue><Title>Molecular syndromology</Title><ISOAbbreviation>Mol Syndromol</ISOAbbreviation></Journal><ArticleTitle>Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedema.</ArticleTitle><Pagination><MedlinePgn>257-66</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1159/000354097</ELocationID><Abstract><AbstractText>Lymphedema is caused by dysfunction of lymphatic vessels, leading to disabling swelling that occurs mostly on the extremities. Lymphedema can be either primary (congenital) or secondary (acquired). Familial primary lymphedema commonly segregates in an autosomal dominant or recessive manner. It can also occur in combination with other clinical features. Nine mutated genes have been identified in different isolated or syndromic forms of lymphedema. However, the prevalence of primary lymphedema that can be explained by these genetic alterations is unknown. In this study, we investigated 7 of these putative genes. We screened 78 index patients from families with inherited lymphedema for mutations in FLT4, GJC2, FOXC2, SOX18, GATA2, CCBE1, and PTPN14. Altogether, we discovered 28 mutations explaining 36% of the cases. Additionally, 149 patients with sporadic primary lymphedema were screened for FLT4, FOXC2, SOX18, CCBE1, and PTPN14. Twelve mutations were found that explain 8% of the cases. Still unidentified is the genetic cause of primary lymphedema in 64% of patients with a family history and 92% of sporadic cases. Identification of those genes is important for understanding of etiopathogenesis, stratification of treatments and generation of disease models. Interestingly, most of the proteins that are encoded by the genes mutated in primary lymphedema seem to act in a single functional pathway involving VEGFR3 signaling. This underscores the important role this pathway plays in lymphatic development and function and suggests that the unknown genes also have a role.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Mendola</LastName><ForeName>A</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Schlögel</LastName><ForeName>M J</ForeName><Initials>MJ</Initials></Author><Author ValidYN="Y"><LastName>Ghalamkarpour</LastName><ForeName>A</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Irrthum</LastName><ForeName>A</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Nguyen</LastName><ForeName>H L</ForeName><Initials>HL</Initials></Author><Author ValidYN="Y"><LastName>Fastré</LastName><ForeName>E</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Bygum</LastName><ForeName>A</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>van der Vleuten</LastName><ForeName>C</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Fagerberg</LastName><ForeName>C</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Baselga</LastName><ForeName>E</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Quere</LastName><ForeName>I</ForeName><Initials>I</Initials></Author><Author ValidYN="Y"><LastName>Mulliken</LastName><ForeName>J B</ForeName><Initials>JB</Initials></Author><Author ValidYN="Y"><LastName>Boon</LastName><ForeName>L M</ForeName><Initials>LM</Initials></Author><Author ValidYN="Y"><LastName>Brouillard</LastName><ForeName>P</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Vikkula</LastName><ForeName>M</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><CollectiveName>Lymphedema Research Group</CollectiveName></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal 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