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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Evaluation of clinical manifestations in patients with severe lymphedema with and without CCBE1 mutations
Molecular Syndromology, Volume 4, No. 3, Year 2013
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Description
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. Copyright © 2012 S. Karger AG, Basel.
Authors & Co-Authors
Alders, Mariëlle
Netherlands, Amsterdam
Universiteit Van Amsterdam
Mendola, A.
Belgium, Brussels
De Duve Institute
Adés, Lesley C.
Australia, Sydney
The University of Sydney
Al-Gazali, Lihadh I.
United Arab Emirates, Al Ain
United Arab Emirates University
Bellini, C.
Italy, Genoa
Università Degli Studi Di Genova
Dallapiccola, Bruno
Italy, Rome
Irccs Ospedale Pediatrico Bambino Gesù
Edery, Patrick
France, Lyon
Chu de Lyon
France, Villeurbanne
Université Claude Bernard Lyon 1
Frank, U.
Germany, Braunschweig
Sozialpädiatrisches Zentrum
Hornshuh, F.
Germany, Witten
Universität Witten/herdecke
Huisman, S. A.
Netherlands, Purmerend
Prinsenstichting
Jagadeesh, S.
India, Chennai
Foetal Care Research
Kayserili, Hülya U.
Turkey, Istanbul
İstanbul Tıp Fakültesi
Keng, Wee Teik
Malaysia, Kuala Lumpur
Kuala Lumpur Hospital
Lev, Dorit Leshem
Israel, Holon
Edith Wolfson Medical Center Israel
Prada, C. E.
United States, Cincinnati
Cincinnati Children's Hospital Medical Center
Sampson, Julian R.
United Kingdom, Cardiff
Cardiff University
Schmidtke, J.
Germany, Hannover
Hannover Medical School
Shashi, V.
United States, Durham
Duke University
van Bever, Yolande
Netherlands, Rotterdam
Erasmus Mc
Van Der Aa, N.
Belgium, Antwerpen
Universiteit Antwerpen
Verhagen, Judith M.A.
Netherlands, Rotterdam
Erasmus Mc
Verheij, J. B.
Netherlands, Groningen
Universitair Medisch Centrum Groningen
Vikkula, Miikka
Belgium, Brussels
De Duve Institute
Hennekam, Raoul C.M.
Netherlands, Amsterdam
Universiteit Van Amsterdam
Netherlands, Amsterdam
Amsterdam Umc - University of Amsterdam
Statistics
Citations: 54
Authors: 24
Affiliations: 23
Identifiers
Doi:
10.1159/000342486
ISSN:
16618769
e-ISSN:
16618777
Research Areas
Cancer
Disability
Genetics And Genomics