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Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes
Open accessAbstract
Oral–facial–digital syndromes (OFDS) gather rare genetic disorders characterised by facial, oral and digital abnormalities associated with a wide range of additional features (polycystic kidney disease, cerebral malformations and several others) to delineate a growing list of OFDS subtypes. The most frequent, OFD type I, is caused by a heterozygous mutation in the OFD1 gene encoding a centrosomal protein. The wide clinical heterogeneity of OFDS suggests the involvement of other ciliary genes. For 15 years, we have aimed to identify the molecular bases of OFDS. This effort has been greatly helped by the recent development of whole-exome sequencing (WES). Here, we present all our published and unpublished results for WES in 24 cases with OFDS. We identified causal variants in five new genes ( C2CD3 , TMEM107 , INTU , KIAA0753 and IFT57 ) and related the clinical spectrum of four genes in other ciliopathies ( C5orf42 , TMEM138 , TMEM231 and WDPCP ) to OFDS. Mutations were also detected in two genes previously implicated in OFDS. Functional studies revealed the involvement of centriole elongation, transition zone and intraflagellar transport defects in OFDS, thus characterising three ciliary protein modules: the complex KIAA0753-FOPNL-OFD1, a regulator of centriole elongation; the Meckel-Gruber syndrome module, a major component of the transition zone; and the CPLANE complex necessary for IFT-A assembly. OFDS now appear to be a distinct subgroup of ciliopathies with wide heterogeneity, which makes the initial classification obsolete. A clinical classification restricted to the three frequent/well-delineated subtypes could be proposed, and for patients who do not fit one of these three main subtypes, a further classification could be based on the genotype.
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“Furthermore, exome sequencing of orofaciodigital syndrome patients with facial, oral, and ear abnormalities revealed disease-associated mutations in INTU [14].”
From Combined genome-wide association study of 136 quantitative ear morphology traits in multiple populations reveal 8 novel loci (2023) · cites this paper as [14]
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Metadata
- Authors
- Bruel, A.-L., Franco, B., Duffourd, Y., Thevenon, J., Jego, L., Lopez, E., Deleuze, J.-F., Doummar, D., Giles, R. H., Johnson, C. A., Huynen, M. A., Chevrier, V., Burglen, L., Morleo, M., Desguerres, I., Pierquin, G., Doray, B., Gilbert-Dussardier, B., Reversade, B., Steichen-Gersdorf, E., Baumann, C., Panigrahi, I., Fargeot-Espaliat, A., Dieux, A., David, A., Goldenberg, A., Bongers, E., Gaillard, D., Argente, J., Aral, B., Gigot, N., St-Onge, J., Birnbaum, D., Phadke, S. R., Cormier-Daire, V., Eguether, T., Pazour, G. J., Herranz-Pérez, V., Goldstein, J. S., Pasquier, L., Loget, P., Saunier, S., Mégarbané, A., Rosnet, O., Leroux, M. R., Wallingford, J. B., Blacque, O. E., Nachury, M. V., Attie-Bitach, T., Rivière, J.-B., Faivre, L., & Thauvin-Robinet, C.
- Affiliations
- Université de Bourgogne (FR)
- Telethon Institute Of Genetics And Medicine (IT)
- FHU-TRANSLAD, Université de Bourgogne/CHU Dijon, Dijon, France
- Centre National de Génotypage, Evry, France
- Hôpital Armand-Trousseau (FR)
- University Medical Center Utrecht (NL)
- University of Leeds (GB)
- Radboud University Medical Center (NL)
- Centre National de la Recherche Scientifique (FR)
- APHP, hôpital TROUSSEAU, Centre de référence des malformations et maladies congénitales du cervelet et département de génétique, Paris, France
- Hôpital Necker-Enfants Malades (FR)
- Centre Hospitalier Universitaire de Liège (BE)
- Hôpital d'Hautepierre (FR)
- Centre de Référence Maladies Rares, Université de Poitiers, Poitiers, France
- Institute of Medical Biology (SG)
- Department of Pediatrics I, Innsbruck Medical University, Innsbruck, Austria
- Hôpital Robert-Debré (FR)
- Post Graduate Institute of Medical Education and Research (IN)
- Pédiatrie Neonatalogie, Centre Hospitalier Général, Brive-la-Gaillarde, Brive-la-Gaillarde, France
- Centre Hospitalier Universitaire de Lille (FR)
- Centre Hospitalier Universitaire de Nantes (FR)
- Centre Hospitalier Universitaire de Rouen (FR)
- Radboud University Nijmegen (NL)
- Hôpital Maison Blanche (FR)
- Instituto de Salud Carlos III (ES)
- CHU Dijon Bourgogne (FR)
- Sanjay Gandhi Post Graduate Institute of Medical Sciences (IN)
- Department of Translational Medicine, Medical Genetics Ferderico II University of Naples, Naples, Italy
- University of Massachusetts Chan Medical School (US)
- Laboratorio de Neurobiología Comparada, Instituto Cavanilles, Universitat de València, CIBERNED, Valencia, Spain
- Stanford Medicine (US)
- Centre Hospitalier Universitaire de Rennes (FR)
- Fondation Jérôme-Lejeune (FR)
- Simon Fraser University (CA)
- The University of Texas at Austin (US)
- University College Dublin (IE)
- INSERM UMR1163, Université de Paris-Descartes-Sorbonne Paris Cité, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France
- Corresponding author
- Bruel, Ange-Line
- ORCID
- Bruel, Ange-Line
- Franco, Brunella
- Duffourd, Yannis
- Deleuze, Jean-François
- Doummar, Diane
- Giles, Rachel H
- Johnson, Colin A
- Huynen, Martijn A
- Chevrier, Véronique
- Morleo, Manuela
- Reversade, Bruno
- Panigrahi, Inusha
- Goldenberg, Alice
- Gaillard, Dominique
- Argente, Jesús
- Birnbaum, Daniel
- Phadke, Shubha R
- Eguether, Thibaut
- Pazour, Gregory J
- Pasquier, Laurent
- Saunier, Sophie
- Mégarbané, André
- Rosnet, Olivier
- Leroux, Michel R
- Wallingford, John B
- Blacque, Oliver E
- Nachury, Maxence V
- Rivière, Jean-Baptiste
- Faivre, Laurence
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 2017-03-13
- Volume
- 54
- Issue
- 6
- Pages
- 371-380
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- PMC
- PMC5557276
- OpenAlex
- W2596488039
- Cited by
- 115
- References
- 50
- Citations by year
- 2026: 6 · 2025: 10 · 2024: 16 · 2023: 9 · 2022: 17 · 2021: 17 · 2020: 18 · 2019: 7 · 2018: 13 · 2017: 2
- FWCI
- 1.40
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Medical Genetics (publishedVersion)
- PubMed (publishedVersion)
- Radboud Repository (Radboud University) (publishedVersion)
- White Rose Research Online (University of Leeds, The University of Sheffield, University of York) (acceptedVersion)
- PubMed Central (acceptedVersion)
- HAL (submittedVersion, other-oa)
- The Journal of the American Medical Association (JAMA) Network (American Medical Association) (submittedVersion)
- HAL (submittedVersion)
- LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas) (submittedVersion, other-oa)
- Utrecht University Repository (Utrecht University) (submittedVersion, other-oa)
- eScholarship (California Digital Library) (submittedVersion, cc-by-nc-nd)
- Archivio Istituzionale della Ricerca - Università degli Studi della Campania "Luigi Vanvitelli" (submittedVersion)
- HighWire Press Open Archive (submittedVersion)
- ORBi (University of Liège) (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- Funders
- Fondation Maladies Rares
- GIS-Institut des Maladies Rares
- Conseil régional de Bourgogne-Franche-Comté
- National Institutes of Health (1rc2hl103010-01)
- Medical Research Council (MR/K011154/1, MR/M000532/1)
- National Heart, Lung, and Blood Institute (HL 102923, RC2HL102925, HL-102924, RC2HL102926, RC2HL102923, UC2HL102924, RC2HL-103010, UC2HL102925, HL 103010, UC2HL102923, UC2HL103010, RC2HL102924, UC2HL102926)
- National Institute of General Medical Sciences (R01GM089933, R01GM060992)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD085901)
- Institute of Genetics
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Kidney Cyst Diseases
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Cystic Fibrosis Research Advances
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- oral-facial-digital syndrome, ciliopathies, OFD1, centrosomal proteins, centriole elongation, transition zone, intraflagellar transport, Meckel-Gruber syndrome, clinical classification, genotype-phenotype correlation
- MeSH terms
- Abnormalities, Multiple, Ciliary Motility Disorders, Encephalocele, Face, Female, Heterozygote, Humans, Polycystic Kidney Diseases, Male, Mutation, Orofaciodigital Syndromes, Proteins, Retinitis Pigmentosa
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