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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Mutational spectrum of the oral-facial-digital type I syndrome: A study on a large collection of patients
Human Mutation, Volume 29, No. 10, Year 2008
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Description
Oral-facial-digital type I (OFDI) syndrome is a male-lethal X-linked dominant developmental disorder belonging to the heterogeneous group of oral-facial-digital syndromes (OFDS). OFDI is characterized by malformations of the face, oral cavity, and digits. Central nervous system (CNS) abnormalities and cystic kidney disease can also be part of this condition. This rare genetic disorder is due to mutations in the OFD1 gene that encodes a centrosome/basal body protein necessary for primary cilium assembly and for left-right axis determination, thus ascribing OFDI to the growing number of disorders associated to ciliary dysfunction. We now report a mutation analysis study in a cohort of 100 unrelated affected individuals collected worldwide. Putative disease-causing mutations were identified in 81 patients (81%). We describe 67 different mutations, 64 of which represent novel mutations, including 36 frameshift, nine missense, 11 splice-site, and 11 nonsense mutations. Most of them concentrate in exons 3, 8, 9, 12, 13, and 16, suggesting that these exons may represent mutational hotspots. Phenotypic characterization of the patients provided a better definition of the clinical features of OFDI syndrome. Our results indicate that renal cystic disease is present in 60% of cases >18 years of age. Genotype-phenotype correlation did not reveal significant associations apart for the high-arched/cleft palate most frequently associated to missense and splice-site mutations. Our results contribute to further expand our knowledge on the molecular basis of OFDI syndrome. © 2008 Wiley-Liss, Inc.
Authors & Co-Authors
Prattichizzo, Clelia
Italy, Naples
Tigem Telethon Institute of Genetics and Medicine
Macca, Marina
Italy, Naples
Tigem Telethon Institute of Genetics and Medicine
Italy, Naples
Università Degli Studi Di Napoli Federico Ii
Novelli, Valeria
Italy, Naples
Tigem Telethon Institute of Genetics and Medicine
Giorgio, Giovanna
Italy, Naples
Tigem Telethon Institute of Genetics and Medicine
Barra, Adriano
Italy, Naples
Tigem Telethon Institute of Genetics and Medicine
Franco, Brunella
Italy, Naples
Tigem Telethon Institute of Genetics and Medicine
Italy, Naples
Università Degli Studi Di Napoli Federico Ii
Abdulla, F.
Bahrain, Manama
Ministry of Health, Kingdom of Bahrain
Abramowicz, Marc Joel
Belgium, Brussels
Université Libre de Bruxelles
Amy, S.
United States, Cleveland
Cleveland Clinic Foundation
Schafer, I.
United States, Cleveland
Cleveland Clinic Foundation
Bankier, A.
Australia, Melbourne
Royal Children's Hospital, Melbourne
White, Susan M.
Australia, Melbourne
Royal Children's Hospital, Melbourne
Barcina, M. G.
Spain, Bilbao
Osakidetza, Basurto University Hospital
Bartoshesky, L. E.
United States, Wilmington
Alfred I. Dupont Hospital for Children
Jenny, K.
United States, Wilmington
Alfred I. Dupont Hospital for Children
Beemer, F. A.
Netherlands, Utrecht
University Medical Center Utrecht
Benke, P.
United States, Hollywood
Memorial Regional Hospital
Betz, Regina Christine
Germany, Bonn
Universität Bonn
Bianchini, G.
Italy, Reggio Emilia
Azienda Ospedaliera Santa Maria Nuova Di Reggio Emilia
Garavelli, Livia
Italy, Reggio Emilia
Azienda Ospedaliera Santa Maria Nuova Di Reggio Emilia
Bigoni, Stefania
Italy, Cona
Azienda Ospedaliero-universitaria Di Ferrara
Bird, Lynne M.
United States, La Jolla
University of California, San Diego
Chibuk, J.
United States, La Jolla
University of California, San Diego
Masser-Frye, Diane
United States, La Jolla
University of California, San Diego
Brunetti, N.
Italy, Naples
Università Degli Studi Di Napoli Federico Ii
Scarcella, A.
Italy, Naples
Università Degli Studi Di Napoli Federico Ii
Brunner, Han G.
Netherlands, Nijmegen
Radboud University Medical Center
Burn, John
United Kingdom, Newcastle
International Centre for Life
Carmi, R.
Israel, Beer-sheva
Ben-gurion University of the Negev
Castellan, C.
Italy, Bolzano
Clinical Genetics Unit
Castelluccio, P.
Italy, Naples
Azienda Ospedaliera Di Rilievo Nazionale Antonio Cardarelli
Castle, B.
United Kingdom, Southampton
University Hospital Southampton Nhs Foundation Trust
Chiong, M. A.
Philippines, Manila
University of the Philippines Manila
Cutiongco, E. M.
Philippines, Manila
University of the Philippines Manila
Collins, F.
Australia, Sydney
The Children's Hospital at Westmead
Couchon, E.
United States, Columbus
Nationwide Children’s Hospital
Curry, A.
United States, Columbus
Nationwide Children’s Hospital
Pastore, Matthew T.
United States, Columbus
Nationwide Children’s Hospital
Curry, Cynthia J.R.
United States, Madera
Children's Hospital Central California
Swenerton, A.
United States, Madera
Children's Hospital Central California
Treisman, T.
United States, Madera
Children's Hospital Central California
Dean, J.
United Kingdom, Aberdeen
Nhs Grampian
Devriendt, Koenraad
Belgium, Leuven
Center for Human Genetics
Matthijs, Gert L.
Belgium, Leuven
Center for Human Genetics
Dunlap, J. W.
United States, Winston Salem
Wake Forest University
Shashi, V.
United States, Winston Salem
Wake Forest University
Elçioǧlu, Nursel H.
Turkey, Istanbul
Marmara Üniversitesi Tip Fakültesi
Farndon, Peter A.
United Kingdom, Birmingham
Birmingham Women's Hospital
Ferrero, Glovanni B.
Italy, Turin
Università Degli Studi Di Torino
Ferrier, R.
Canada, Calgary
University of Calgary
Foulds, N.
United Kingdom, Southampton
University Hospital Southampton Nhs Foundation Trust
Friedman, Jan M.
Canada, Vancouver
Bc Children's Hospital
Gal, Andreas
Germany, Hamburg
Universitätsklinikum Hamburg-eppendorf
Orth, U.
Germany, Hamburg
Universitätsklinikum Hamburg-eppendorf
Gardner, M.
Australia, Melbourne
Royal Children's Hospital, Melbourne
Gerola, O.
Italy, Pavia
Fondazione Irccs Policlinico San Matteo
Gillessen-Kaesbach, G.
Germany, Essen
Universitätsklinikum Essen
Giuliano, Fabienne
France, Nice
Centre Hospitalier Universitaire de Nice
Turc-Carel, C.
France, Nice
Centre Hospitalier Universitaire de Nice
Gödde, E.
Germany, Witten
Universität Witten/herdecke
Graber, V.
Switzerland, Zurich
Universität Zürich
Graham, Gail E.
Canada, Ottawa
Children's Hospital of Eastern Ontario, Ottawa
Gurrieri, Fiorella
Italy, Rome
Università Cattolica Del Sacro Cuore, Campus Di Roma
Harbour, L.
Canada, Vancouver
Children's and Women's Health Centre of British Columbia
Henderson, A.
United Kingdom, Newcastle
International Centre for Life
Jones, Elizabeth A.
United Kingdom, Newcastle
International Centre for Life
Heran, H.
Canada, Vancouver
Children's and Women's Health Centre of British Columbia
Homfray, Tessa F.R.
United Kingdom, London
St George’s, University of London
Taylor, R.
United Kingdom, London
St George’s, University of London
Iwarsson, E.
Sweden, Stockholm
Karolinska Universitetssjukhuset
Jensen, P.
Denmark, Aarhus
Aarhus Universitetshospital
Jezela-Stanek, Aleksandra
Poland, Warsaw
Instytut Pomnik - Centrum Zdrowia Dziecka
Joss, Shelagh K.
United Kingdom, Leeds
St James's University Hospital
Taylor, Graham Roy
United Kingdom, Leeds
St James's University Hospital
Keeling, S. L.
Australia, Melbourne
Royal Children's Hospital, Melbourne
Klatt, R.
Canada, Toronto
Hospital for Sick Children University of Toronto
Teebi, Ahmad Said
Canada, Toronto
Hospital for Sick Children University of Toronto
Klehr-Martinelli, M.
Germany, Munich
Prenatal Medicine and Genetics München
Kotzot, D.
Germany, Munich
Ludwig-maximilians-universität München
Lees, Melissa M.
United Kingdom, London
Great Ormond Street Hospital for Children Nhs Foundation Trust
Loughlin, S.
United Kingdom, London
Great Ormond Street Hospital for Children Nhs Foundation Trust
Lhotta, Karl
Austria, Innsbruck
Landeskrankenhaus Innsbruck
MacDonald, Fiona E.
United Kingdom, Birmingham
Birmingham Women's Hospital
Mari, Francesca
Italy, Siena
Azienda Ospedaliera Universitaria Senese
Renieri, Alessandra
Italy, Siena
Azienda Ospedaliera Universitaria Senese
Marlin, Sandrine
France, Paris
Hôpital Armand-trousseau
McGaughran, Julie M.
Australia, Brisbane
Royal Children's Hospital Brisbane
McKenzie, Fiona
Australia, Brisbane
Royal Children's Hospital Brisbane
McLeod, D. Ross
Canada, Calgary
Alberta Children's Hospital
Megarbane, Andre
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Mota, C. R.
Portugal, Porto
Institute of Medical Genetics Jacinto de Magalhães
Mucke, J.
Germany, St Ingbert
St. Ingbert County Hospital
Tzschach, Andreas
Germany, St Ingbert
St. Ingbert County Hospital
Obersztyn, E.
Poland, Warsaw
Instytut Matki I Dziecka
Okhowat, R.
Switzerland, Zurich
Universität Zürich
Shinzel, A.
Switzerland, Zurich
Universität Zürich
Pfau, R.
United States, Dayton
Children's Medical Center of Dayton
Pober, B.
United States, New Haven
Yale University
Raymond, Frances Lucy
United Kingdom, Cambridge
Addenbrooke's Hospital
Reich, E.
United States, New York
New York University
Statistics
Citations: 100
Authors: 100
Affiliations: 63
Identifiers
Doi:
10.1002/humu.20792
ISSN:
10597794
Research Areas
Cancer
Genetics And Genomics
Health System And Policy
Noncommunicable Diseases
Study Design
Cohort Study
Participants Gender
Male