Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations.
Identifieur interne : 001B61 ( PubMed/Corpus ); précédent : 001B60; suivant : 001B62Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations.
Auteurs : M. Alders ; A. Mendola ; L. Adès ; L. Al Gazali ; C. Bellini ; B. Dallapiccola ; P. Edery ; U. Frank ; F. Hornshuh ; S A Huisman ; S. Jagadeesh ; H. Kayserili ; W T Keng ; D. Lev ; C E Prada ; J R Sampson ; J. Schmidtke ; V. Shashi ; Y. Van Bever ; N. Van Der Aa ; J M Verhagen ; J B Verheij ; M. Vikkula ; R C HennekamSource :
- Molecular syndromology [ 1661-8769 ] ; 2013.
Abstract
The lymphedema-lymphangiectasia-intellectual disability (Hennekam) syndrome (HS) is characterised by a widespread congenital lymph vessel dysplasia manifesting as congenital lymphedema of the limbs and intestinal lymphangiectasia, accompanied by unusual facial morphology, variable intellectual disabilities and infrequently malformations. The syndrome is heterogeneous as mutations in the gene CCBE1 have been found responsible for the syndrome in only a subset of patients. We investigated whether it would be possible to predict the presence of a CCBE1 mutation based on phenotype by collecting clinical data of patients diagnosed with HS, with or without a CCBE1 mutation. We report here the results of 13 CCBE1 positive patients, 16 CCBE1 negative patients, who were clinically found to have classical HS, and 8 patients in whom the diagnosis was considered possible, but not certain, and in whom no CCBE1 mutation was identified. We found no statistically significant phenotypic differences between the 2 groups with the clinical HS phenotype, although the degree of lymphatic dysplasia tended to be more pronounced in the mutation positive group. We also screened 158 patients with less widespread and less pronounced forms of lymphatic dysplasia for CCBE1 mutations, and no mutation was detected in this group. Our results suggest that (1) CCBE1 mutations are present only in patients with a likely clinical diagnosis of HS, and not in patients with less marked forms of lymphatic dysplasia, and (2) that there are no major phenotypic differences between HS patients with or without CCBE1 mutations.
DOI: 10.1159/000342486
PubMed: 23653581
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Alders</name><affiliation><nlm:affiliation>Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Mendola, A" sort="Mendola, A" uniqKey="Mendola A" first="A" last="Mendola">A. Mendola</name></author><author><name sortKey="Ades, L" sort="Ades, L" uniqKey="Ades L" first="L" last="Adès">L. Adès</name></author><author><name sortKey="Al Gazali, L" sort="Al Gazali, L" uniqKey="Al Gazali L" first="L" last="Al Gazali">L. Al Gazali</name></author><author><name sortKey="Bellini, C" sort="Bellini, C" uniqKey="Bellini C" first="C" last="Bellini">C. Bellini</name></author><author><name sortKey="Dallapiccola, B" sort="Dallapiccola, B" uniqKey="Dallapiccola B" first="B" last="Dallapiccola">B. Dallapiccola</name></author><author><name sortKey="Edery, P" sort="Edery, P" uniqKey="Edery P" first="P" last="Edery">P. Edery</name></author><author><name sortKey="Frank, U" sort="Frank, U" uniqKey="Frank U" first="U" last="Frank">U. Frank</name></author><author><name sortKey="Hornshuh, F" sort="Hornshuh, F" uniqKey="Hornshuh F" first="F" last="Hornshuh">F. Hornshuh</name></author><author><name sortKey="Huisman, S A" sort="Huisman, S A" uniqKey="Huisman S" first="S A" last="Huisman">S A Huisman</name></author><author><name sortKey="Jagadeesh, S" sort="Jagadeesh, S" uniqKey="Jagadeesh S" first="S" last="Jagadeesh">S. Jagadeesh</name></author><author><name sortKey="Kayserili, H" sort="Kayserili, H" uniqKey="Kayserili H" first="H" last="Kayserili">H. Kayserili</name></author><author><name sortKey="Keng, W T" sort="Keng, W T" uniqKey="Keng W" first="W T" last="Keng">W T Keng</name></author><author><name sortKey="Lev, D" sort="Lev, D" uniqKey="Lev D" first="D" last="Lev">D. Lev</name></author><author><name sortKey="Prada, C E" sort="Prada, C E" uniqKey="Prada C" first="C E" last="Prada">C E Prada</name></author><author><name sortKey="Sampson, J R" sort="Sampson, J R" uniqKey="Sampson J" first="J R" last="Sampson">J R Sampson</name></author><author><name sortKey="Schmidtke, J" sort="Schmidtke, J" uniqKey="Schmidtke J" first="J" last="Schmidtke">J. Schmidtke</name></author><author><name sortKey="Shashi, V" sort="Shashi, V" uniqKey="Shashi V" first="V" last="Shashi">V. Shashi</name></author><author><name sortKey="Van Bever, Y" sort="Van Bever, Y" uniqKey="Van Bever Y" first="Y" last="Van Bever">Y. Van Bever</name></author><author><name sortKey="Van Der Aa, N" sort="Van Der Aa, N" uniqKey="Van Der Aa N" first="N" last="Van Der Aa">N. Van Der Aa</name></author><author><name sortKey="Verhagen, J M" sort="Verhagen, J M" uniqKey="Verhagen J" first="J M" last="Verhagen">J M Verhagen</name></author><author><name sortKey="Verheij, J B" sort="Verheij, J B" uniqKey="Verheij J" first="J B" last="Verheij">J B Verheij</name></author><author><name sortKey="Vikkula, M" sort="Vikkula, M" uniqKey="Vikkula M" first="M" last="Vikkula">M. Vikkula</name></author><author><name sortKey="Hennekam, R C" sort="Hennekam, R C" uniqKey="Hennekam R" first="R C" last="Hennekam">R C Hennekam</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">The lymphedema-lymphangiectasia-intellectual disability (Hennekam) syndrome (HS) is characterised by a widespread congenital lymph vessel dysplasia manifesting as congenital lymphedema of the limbs and intestinal lymphangiectasia, accompanied by unusual facial morphology, variable intellectual disabilities and infrequently malformations. The syndrome is heterogeneous as mutations in the gene CCBE1 have been found responsible for the syndrome in only a subset of patients. We investigated whether it would be possible to predict the presence of a CCBE1 mutation based on phenotype by collecting clinical data of patients diagnosed with HS, with or without a CCBE1 mutation. We report here the results of 13 CCBE1 positive patients, 16 CCBE1 negative patients, who were clinically found to have classical HS, and 8 patients in whom the diagnosis was considered possible, but not certain, and in whom no CCBE1 mutation was identified. We found no statistically significant phenotypic differences between the 2 groups with the clinical HS phenotype, although the degree of lymphatic dysplasia tended to be more pronounced in the mutation positive group. We also screened 158 patients with less widespread and less pronounced forms of lymphatic dysplasia for CCBE1 mutations, and no mutation was detected in this group. Our results suggest that (1) CCBE1 mutations are present only in patients with a likely clinical diagnosis of HS, and not in patients with less marked forms of lymphatic dysplasia, and (2) that there are no major phenotypic differences between HS patients with or without CCBE1 mutations.</div></front></TEI><pubmed><MedlineCitation Status="PubMed-not-MEDLINE" Owner="NLM"><PMID Version="1">23653581</PMID><DateCreated><Year>2013</Year><Month>05</Month><Day>08</Day></DateCreated><DateCompleted><Year>2013</Year><Month>05</Month><Day>09</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>3</Issue><PubDate><Year>2013</Year><Month>Mar</Month></PubDate></JournalIssue><Title>Molecular syndromology</Title><ISOAbbreviation>Mol Syndromol</ISOAbbreviation></Journal><ArticleTitle>Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations.</ArticleTitle><Pagination><MedlinePgn>107-13</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1159/000342486</ELocationID><Abstract><AbstractText>The lymphedema-lymphangiectasia-intellectual disability (Hennekam) syndrome (HS) is characterised by a widespread congenital lymph vessel dysplasia manifesting as congenital lymphedema of the limbs and intestinal lymphangiectasia, accompanied by unusual facial morphology, variable intellectual disabilities and infrequently malformations. The syndrome is heterogeneous as mutations in the gene CCBE1 have been found responsible for the syndrome in only a subset of patients. We investigated whether it would be possible to predict the presence of a CCBE1 mutation based on phenotype by collecting clinical data of patients diagnosed with HS, with or without a CCBE1 mutation. We report here the results of 13 CCBE1 positive patients, 16 CCBE1 negative patients, who were clinically found to have classical HS, and 8 patients in whom the diagnosis was considered possible, but not certain, and in whom no CCBE1 mutation was identified. We found no statistically significant phenotypic differences between the 2 groups with the clinical HS phenotype, although the degree of lymphatic dysplasia tended to be more pronounced in the mutation positive group. We also screened 158 patients with less widespread and less pronounced forms of lymphatic dysplasia for CCBE1 mutations, and no mutation was detected in this group. Our results suggest that (1) CCBE1 mutations are present only in patients with a likely clinical diagnosis of HS, and not in patients with less marked forms of lymphatic dysplasia, and (2) that there are no major phenotypic differences between HS patients with or without CCBE1 mutations.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Alders</LastName><ForeName>M</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mendola</LastName><ForeName>A</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Adès</LastName><ForeName>L</ForeName><Initials>L</Initials></Author><Author ValidYN="Y"><LastName>Al Gazali</LastName><ForeName>L</ForeName><Initials>L</Initials></Author><Author ValidYN="Y"><LastName>Bellini</LastName><ForeName>C</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Dallapiccola</LastName><ForeName>B</ForeName><Initials>B</Initials></Author><Author ValidYN="Y"><LastName>Edery</LastName><ForeName>P</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Frank</LastName><ForeName>U</ForeName><Initials>U</Initials></Author><Author ValidYN="Y"><LastName>Hornshuh</LastName><ForeName>F</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Huisman</LastName><ForeName>S A</ForeName><Initials>SA</Initials></Author><Author ValidYN="Y"><LastName>Jagadeesh</LastName><ForeName>S</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Kayserili</LastName><ForeName>H</ForeName><Initials>H</Initials></Author><Author ValidYN="Y"><LastName>Keng</LastName><ForeName>W T</ForeName><Initials>WT</Initials></Author><Author ValidYN="Y"><LastName>Lev</LastName><ForeName>D</ForeName><Initials>D</Initials></Author><Author ValidYN="Y"><LastName>Prada</LastName><ForeName>C E</ForeName><Initials>CE</Initials></Author><Author ValidYN="Y"><LastName>Sampson</LastName><ForeName>J R</ForeName><Initials>JR</Initials></Author><Author ValidYN="Y"><LastName>Schmidtke</LastName><ForeName>J</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Shashi</LastName><ForeName>V</ForeName><Initials>V</Initials></Author><Author ValidYN="Y"><LastName>van Bever</LastName><ForeName>Y</ForeName><Initials>Y</Initials></Author><Author ValidYN="Y"><LastName>Van der Aa</LastName><ForeName>N</ForeName><Initials>N</Initials></Author><Author ValidYN="Y"><LastName>Verhagen</LastName><ForeName>J M</ForeName><Initials>JM</Initials></Author><Author ValidYN="Y"><LastName>Verheij</LastName><ForeName>J B</ForeName><Initials>JB</Initials></Author><Author ValidYN="Y"><LastName>Vikkula</LastName><ForeName>M</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Hennekam</LastName><ForeName>R C</ForeName><Initials>RC</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2012</Year><Month>10</Month><Day>02</Day></ArticleDate></Article><MedlineJournalInfo><Country>Switzerland</Country><MedlineTA>Mol Syndromol</MedlineTA><NlmUniqueID>101525192</NlmUniqueID><ISSNLinking>1661-8769</ISSNLinking></MedlineJournalInfo><CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>Am J Med Genet. 1989 Dec;34(4):593-600</RefSource><PMID Version="1">2624276</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Hum Genet. 2000 Aug;67(2):295-301</RefSource><PMID Version="1">10856194</PMID></CommentsCorrections><CommentsCorrections 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Version="1">11242109</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Hum Genet. 2003 Jun;72(6):1470-8</RefSource><PMID Version="1">12740761</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nat Genet. 2000 Jun;25(2):153-9</RefSource><PMID Version="1">10835628</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Hum Genet. 2010 Sep 10;87(3):436-44</RefSource><PMID Version="1">20826270</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Med Genet. 2002 Nov 1;112(4):412-21</RefSource><PMID Version="1">12376947</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Med Genet. 2011 Apr;48(4):251-5</RefSource><PMID Version="1">21266381</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Hum Genet. 2010 Jun 11;86(6):943-8</RefSource><PMID Version="1">20537300</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nat Genet. 2009 Apr;41(4):396-8</RefSource><PMID Version="1">19287381</PMID></CommentsCorrections></CommentsCorrectionsList><OtherID Source="NLM">PMC3638933</OtherID><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">Autosomal recessive</Keyword><Keyword MajorTopicYN="N">CCBE1</Keyword><Keyword MajorTopicYN="N">Genotype-phenotype</Keyword><Keyword MajorTopicYN="N">Hennekam syndrome</Keyword><Keyword MajorTopicYN="N">Lymphangiectasia</Keyword><Keyword MajorTopicYN="N">Lymphatic dysplasia</Keyword><Keyword MajorTopicYN="N">Lymphedema</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="accepted"><Year>2012</Year><Month>07</Month><Day>31</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2013</Year><Month>5</Month><Day>9</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2013</Year><Month>5</Month><Day>9</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate 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