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1. Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes

Author

Bruel, Ange-Line, Franco, Brunella, Duffourd, Yannis, Thevenon, Julien, Jego, Laurence, Lopez, Estelle, Deleuze, Jean-François, Doummar, Diane, Giles, Rachel H, Johnson, Colin A, Huynen, Martijn A, Chevrier, Véronique, Burglen, Lydie, Morleo, Manuela, Desguerres, Isabelle, Pierquin, Geneviève, Doray, Bérénice, Gilbert-Dussardier, Brigitte, Reversade, Bruno, Steichen-Gersdorf, Elisabeth, Baumann, Clarisse, Panigrahi, Inusha, Fargeot-Espaliat, Anne, Dieux, Anne, David, Albert, Goldenberg, Alice, Bongers, Ernie, Gaillard, Dominique, Argente, Jesús, Aral, Bernard, Gigot, Nadège, St-Onge, Judith, Birnbaum, Daniel, Phadke, Shubha R, Cormier-Daire, Valérie, Eguether, Thibaut, Pazour, Gregory J, Herranz-Pérez, Vicente, Goldstein, Jaclyn S, Pasquier, Laurent, Loget, Philippe, Saunier, Sophie, Mégarbané, André, Rosnet, Olivier, Leroux, Michel R, Wallingford, John B, Blacque, Oliver E, Nachury, Maxence V, Attie-Bitach, Tania, Rivière, Jean-Baptiste, Faivre, Laurence, and Thauvin-Robinet, Christel

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Kidney Disease, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Congenital, Abnormalities, Multiple, Ciliary Motility Disorders, Encephalocele, Face, Female, Heterozygote, Humans, Male, Mutation, Orofaciodigital Syndromes, Polycystic Kidney Diseases, Proteins, Retinitis Pigmentosa, ciliopathies, oral-facial-digital syndromes, Medical and Health Sciences, Genetics & Heredity, Clinical sciences
Abstract

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 Here, we present all our published and unpublished results for WES in 24 cases with OFDS.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.

Published
2017

3. The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

Author

Thauvin-Robinet, Christel, Lee, Jaclyn S, Lopez, Estelle, Herranz-Pérez, Vicente, Shida, Toshinobu, Franco, Brunella, Jego, Laurence, Ye, Fan, Pasquier, Laurent, Loget, Philippe, Gigot, Nadège, Aral, Bernard, Lopes, Carla AM, St-Onge, Judith, Bruel, Ange-Line, Thevenon, Julien, González-Granero, Susana, Alby, Caroline, Munnich, Arnold, Vekemans, Michel, Huet, Frédéric, Fry, Andrew M, Saunier, Sophie, Rivière, Jean-Baptiste, Attié-Bitach, Tania, Garcia-Verdugo, Jose Manuel, Faivre, Laurence, Mégarbané, André, and Nachury, Maxence V

Subjects
Agricultural, Veterinary and Food Sciences, Biological Sciences, Bioinformatics and Computational Biology, Genetics, Agricultural Biotechnology, Rare Diseases, Dental/Oral and Craniofacial Disease, Pediatric, Congenital Structural Anomalies, Cell Line, Centrioles, Child, Preschool, Genetic Predisposition to Disease, HEK293 Cells, Humans, Male, Microcephaly, Microtubule-Associated Proteins, Orofaciodigital Syndromes, Proteins, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

Centrioles are microtubule-based, barrel-shaped structures that initiate the assembly of centrosomes and cilia. How centriole length is precisely set remains elusive. The microcephaly protein CPAP (also known as MCPH6) promotes procentriole growth, whereas the oral-facial-digital (OFD) syndrome protein OFD1 represses centriole elongation. Here we uncover a new subtype of OFD with severe microcephaly and cerebral malformations and identify distinct mutations in two affected families in the evolutionarily conserved C2CD3 gene. Concordant with the clinical overlap, C2CD3 colocalizes with OFD1 at the distal end of centrioles, and C2CD3 physically associates with OFD1. However, whereas OFD1 deletion leads to centriole hyperelongation, loss of C2CD3 results in short centrioles without subdistal and distal appendages. Because C2CD3 overexpression triggers centriole hyperelongation and OFD1 antagonizes this activity, we propose that C2CD3 directly promotes centriole elongation and that OFD1 acts as a negative regulator of C2CD3. Our results identify regulation of centriole length as an emerging pathogenic mechanism in ciliopathies.

Published
2014

4. C5orf42 is the major gene responsible for OFD syndrome type VI

Author

Lopez, Estelle, Thauvin-Robinet, Christel, Reversade, Bruno, Khartoufi, Nadia El, Devisme, Louise, Holder, Muriel, Ansart-Franquet, Hélène, Avila, Magali, Lacombe, Didier, Kleinfinger, Pascale, Kaori, Irahara, Takanashi, Jun-Ichi, Le Merrer, Martine, Martinovic, Jelena, Noël, Catherine, Shboul, Mohammad, Ho, Lena, Güven, Yeliz, Razavi, Ferechté, Burglen, Lydie, Gigot, Nadège, Darmency-Stamboul, Véronique, Thevenon, Julien, Aral, Bernard, Kayserili, Hülya, Huet, Frédéric, Lyonnet, Stanislas, Le Caignec, Cédric, Franco, Brunella, Rivière, Jean-Baptiste, Faivre, Laurence, and Attié-Bitach, Tania

Published
2014
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6. Cohen syndrome is associated with major glycosylation defects

Author

Duplomb, Laurence, Duvet, Sandrine, Picot, Damien, Jego, Gaëtan, El Chehadeh-Djebbar, Salima, Marle, Nathalie, Gigot, Nadège, Aral, Bernard, Carmignac, Virginie, Thevenon, Julien, Lopez, Estelle, Rivière, Jean-Baptiste, Klein, André, Philippe, Christophe, Droin, Nathalie, Blair, Edward, Girodon, François, Donadieu, Jean, Bellanné-Chantelot, Christine, Delva, Laurent, Michalski, Jean-Claude, Solary, Eric, Faivre, Laurence, Foulquier, François, and Thauvin-Robinet, Christel

Published
2014
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7. The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy

Author

Courcet, Jean-Benoît, Faivre, Laurence, Malzac, Perrine, Masurel-Paulet, Alice, Lopez, Estelle, Callier, Patrick, Lambert, Laetitia, Lemesle, Martine, Thevenon, Julien, Gigot, Nadège, Duplomb, Laurence, Ragon, Clémence, Marle, Nathalie, Mosca-Boidron, Anne-Laure, Huet, Frédéric, Philippe, Christophe, Moncla, Anne, and Thauvin-Robinet, Christel

Published
2012
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8. Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability

Author

Thevenon, Julien, Lopez, Estelle, Keren, Boris, Heron, Delphine, Mignot, Cyril, Altuzarra, Cecilia, Béri-Dexheimer, Mylène, Bonnet, Céline, Magnin, Eloi, Burglen, Lydie, Minot, Delphine, Vigneron, Jacqueline, Morle, Sophie, Anheim, Mathieu, Charles, Perrine, Brice, Alexis, Gallagher, Louise, Amiel, Jeanne, Haffen, Emmanuel, Mach, Corinne, Depienne, Christel, Doummar, Diane, Bonnet, Marlène, Duplomb, Laurence, Carmignac, Virginie, Callier, Patrick, Marle, Nathalie, Mosca-Boidron, Anne-Laure, Roze, Virginie, Aral, Bernard, Razavi, Ferechte, Jonveaux, Philippe, Faivre, Laurence, and Thauvin-Robinet, Christel

Published
2012
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12. Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes

Author

Bruel , Ange-Line, Duffourd , Yannis, Thevenon , Julien, Duplomb Jego , Laurence, Lopez , Estelle, Morleo, Manuela, Gigot , Nadège, Saint-Onge , Judith, Thauvin-Robinet , Christel, Riviere , Jean-Baptiste, Faivre , Laurence, Lipides - Nutrition - Cancer [Dijon - U1231] ( LNC ), Université de Bourgogne ( UB ) -AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand ( CHU Dijon ), Laboratoire de cytogénétique (CHU de Dijon), and GIS-Institut des Maladies Rares (HTS) French Foundation for Rare Diseases French Ministry of Health 2010-A01014-35 Regional Council of Burgundy

Subjects
orofaciodigital syndrome, joubert syndrome, ciliary transition zone, basal body, mutations, protein, [ SDV.GEN ] Life Sciences [q-bio]/Genetics, meckel-gruber-syndrome, ciliogenesis, complex, ofd1 gene
Abstract

International audience; 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.

Published
2017

13. 15 years of research on Oral-Facial-Digital syndromes: from 1 to 16 causal genes

Author

Bruel, Ange-Line, Franco, Brunella, Duffourd, Yannis, Thevenon, Julien, Jego, Laurence, Lopez, Estelle, Deleuze, Jean-François, Doummar, Diane, Giles, Rachel H., Johnson, Colin A., Huynen, Martijn A., Chevrier, Véronique, Burglen, Lydie, Morleo, Manuela, Desguerres, Isabelle, Pierquin, Geneviève, Doray, Bérénice, Gilbert-Dussardier, Brigitte, Reversade, Bruno, Steichen-Gersdorf, Elisabeth, Baumann, Clarisse, Panigrahi, Inusha, Fargeot-Espaliat, Anne, Dieux, Anne, David, Albert, Goldenberg, Alice, Bongers, Ernie, Gaillard, Dominique, Argente, Jesús, Aral, Bernard, Gigot, Nadège, St-Onge, Judith, Birnbaum, Daniel, Phadke, Shubha R., Cormier-Daire, Valérie, Eguether, Thibaut, Pazour, Gregory J., Herranz-Pérez, Vicente, Lee, Jaclyn S., Pasquier, Laurent, Loget, Philippe, Saunier, Sophie, Mégarbané, André, Rosnet, Olivier, Leroux, Michel R., Wallingford, John B., Blacque, Oliver E., Nachury, Maxence V., Attie-Bitach, Tania, Rivière, Jean-Baptiste, Faivre, Laurence, and Thauvin-Robinet, Christel

Subjects
Male, Heterozygote, Polycystic Kidney Diseases, Proteins, Orofaciodigital Syndromes, Article, Face, Mutation, Humans, Abnormalities, Multiple, Female, Retinitis Pigmentosa, Ciliary Motility Disorders, Encephalocele
Abstract

Oral-facial-digital syndromes (OFDS) gather rare genetic disorders characterized 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 OFD 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 OFDS cases. We identified causal variants in five new genes (C2CD3, TMEM107, INTU, KIAA0753, IFT57) and related the clinical spectrum of four genes in other ciliopathies (C5orf42, TMEM138, TMEM231, 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 characterizing three ciliary protein modules: the complex KIAA0753-FOPNL-OFD1, a regulator of centriole elongation; the MKS 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 3 main subtypes, a further classification could be based on the genotype.

Published
2017

14. In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses

Author

Alby, Caroline, primary, Boutaud, Lucile, additional, Bonnière, Maryse, additional, Collardeau‐Frachon, Sophie, additional, Guibaud, Laurent, additional, Lopez, Estelle, additional, Bruel, Ange‐Line, additional, Aral, Bernard, additional, Sonigo, Pascale, additional, Roth, Philippe, additional, Vibert‐Guigue, Claude, additional, Castaigne, Vanina, additional, Carbonne, Bruno, additional, Joyé, Nicole, additional, Faivre, Laurence, additional, Cordier, Marie‐Pierre, additional, Bernabe Gelot, Antoinette, additional, Clementi, Maurizio, additional, Mammi, Isabella, additional, Vekemans, Michel, additional, Razavi, Féréchté, additional, Gonzales, Marie, additional, Thauvin‐Robinet, Christel, additional, and Attié‐Bitach, Tania, additional

Published
2017
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15. Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome

Author

Darmency-Stamboul, Véronique, Burglen, Lydie, Lopez, Estelle, Mejean, Nathalie, Dean, John, Franco, Brunella, Rodriguez, Diana, Lacombe, Didier, Desguerres, Isabelle, Cormier-Daire, Valérie, Doray, Bérénice, Pasquier, Laurent, Gonzales, Marie, Pastore, Matthew, Crenshaw, Melissa L., Huet, Frédéric, Gigot, Nadège, Aral, Bernard, Callier, Patrick, Faivre, Laurence, Attié-Bitach, Tania, and Thauvin-Robinet, Christel

Published
2013
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16. Mutations inMYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS

Author

Lopez, Estelle, primary, Berenguer, Marie, additional, Tingaud-Sequeira, Angèle, additional, Marlin, Sandrine, additional, Toutain, Annick, additional, Denoyelle, Françoise, additional, Picard, Arnaud, additional, Charron, Sabine, additional, Mathieu, Guilaine, additional, de Belvalet, Harmony, additional, Arveiler, Benoit, additional, Babin, Patrick J, additional, Lacombe, Didier, additional, and Rooryck, Caroline, additional

Published
2016
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17. MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone

Author

Li, Chunmei, primary, Jensen, Victor L., additional, Park, Kwangjin, additional, Kennedy, Julie, additional, Garcia-Gonzalo, Francesc R., additional, Romani, Marta, additional, De Mori, Roberta, additional, Bruel, Ange-Line, additional, Gaillard, Dominique, additional, Doray, Bérénice, additional, Lopez, Estelle, additional, Rivière, Jean-Baptiste, additional, Faivre, Laurence, additional, Thauvin-Robinet, Christel, additional, Reiter, Jeremy F., additional, Blacque, Oliver E., additional, Valente, Enza Maria, additional, and Leroux, Michel R., additional

Published
2016
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18. In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses.

Author

Alby, Caroline, Boutaud, Lucile, Bonnière, Maryse, Collardeau-Frachon, Sophie, Guibaud, Laurent, Lopez, Estelle, Bruel, Ange-Line, Aral, Bernard, Sonigo, Pascale, Roth, Philippe, Vibert-Guigue, Claude, Castaigne, Vanina, Carbonne, Bruno, Joye, Nicole, Faivre, Laurence, Cordier, Marie-Pierre, Gelot, Antoinette Bernabe, Clementi, Maurizio, Mammi, Isabella, and Vekemans, Michel

Abstract

Background: OFD1 syndrome is a rare ciliopathy inherited on a dominant X-linked mode, typically lethal in males in the first or second trimester of pregnancy. It is characterized by oral cavity and digital anomalies possibly associated with cerebral and renal signs. Its prevalence is between 1/250,000 and 1/50,000 births. It is due to heterozygous mutations of OFD1 and mutations are often de novo (75%). Familial forms show highly variable phenotypic expression. OFD1 encodes a protein involved in centriole growth, distal appendix formation, and ciliogenesis. Cases: We report the investigation of three female fetuses in which corpus callosum agenesis was detected by ultrasound during the second trimester of pregnancy. In all three fetuses, fetopathological examination allowed the diagnosis of OFD1 syndrome, which was confirmed by molecular analysis. Conclusions: To our knowledge, these are the first case reports of antenatal diagnosis of OFD1 syndrome in the absence of familial history, revealed following detection of agenesis of the corpus callosum. They highlight the impact of fetal examination following termination of pregnancy for brain malformations. They also highlight the contribution of ciliary genes to corpus callosum development. [ABSTRACT FROM AUTHOR]

Published
2018
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19. In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome

Author

Carmignac, Virginie, Thevenon, Julien, Adès, Lesley, Callewaert, Bert, Julia, Sophie, Thauvin-Robinet, Christel, Gueneau, Lucie, Courcet, Jean-Benoit, Lopez, Estelle, Holman, Katherine, Renard, Marjolijn, Plauchu, Henri, Plessis, Ghislaine, De Backer, Julie, Child, Anne, Arno, Gavin, Duplomb, Laurence, Callier, Patrick, Aral, Bernard, Vabres, Pierre, Gigot, Nadège, Arbustini, Eloisa, Grasso, Maurizia, Robinson, Peter N., Goizet, Cyril, Baumann, Clarisse, Di Rocco, Maja, Sanchez Del Pozo, Jaime, Huet, Frédéric, Jondeau, Guillaume, Collod-Beroud, Gwenaëlle, Beroud, Christophe, Amiel, Jeanne, Cormier-Daire, Valérie, Rivière, Jean-Baptiste, Boileau, Catherine, De Paepe, Anne, and Faivre, Laurence

Published
2012
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20. Cohen syndrome is associated with major glycosylation defects

Author

Duplomb, Laurence, primary, Duvet, Sandrine, additional, Picot, Damien, additional, Jego, Gaëtan, additional, El Chehadeh-Djebbar, Salima, additional, Marle, Nathalie, additional, Gigot, Nadège, additional, Aral, Bernard, additional, Carmignac, Virginie, additional, Thevenon, Julien, additional, Lopez, Estelle, additional, Rivière, Jean-Baptiste, additional, Klein, André, additional, Philippe, Christophe, additional, Droin, Nathalie, additional, Blair, Edward, additional, Girodon, François, additional, Donadieu, Jean, additional, Bellanné-Chantelot, Christine, additional, Delva, Laurent, additional, Michalski, Jean-Claude, additional, Solary, Eric, additional, Faivre, Laurence, additional, Foulquier, François, additional, and Thauvin-Robinet, Christel, additional

Published
2013
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21. C5orf42 is the major gene responsible for OFD syndrome type VI

Author

Lopez, Estelle, primary, Thauvin-Robinet, Christel, additional, Reversade, Bruno, additional, Khartoufi, Nadia El, additional, Devisme, Louise, additional, Holder, Muriel, additional, Ansart-Franquet, Hélène, additional, Avila, Magali, additional, Lacombe, Didier, additional, Kleinfinger, Pascale, additional, Kaori, Irahara, additional, Takanashi, Jun-Ichi, additional, Le Merrer, Martine, additional, Martinovic, Jelena, additional, Noël, Catherine, additional, Shboul, Mohammad, additional, Ho, Lena, additional, Güven, Yeliz, additional, Razavi, Ferechté, additional, Burglen, Lydie, additional, Gigot, Nadège, additional, Darmency-Stamboul, Véronique, additional, Thevenon, Julien, additional, Aral, Bernard, additional, Kayserili, Hülya, additional, Huet, Frédéric, additional, Lyonnet, Stanislas, additional, Le Caignec, Cédric, additional, Franco, Brunella, additional, Rivière, Jean-Baptiste, additional, Faivre, Laurence, additional, and Attié-Bitach, Tania, additional

Published
2013
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23. Mutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS.

Author

Lopez, Estelle, Berenguer, Marie, Tingaud-Sequeira, Angèle, Marlin, Sandrine, Toutain, Annick, Denoyelle, Françoise, Picard, Arnaud, Charron, Sabine, Mathieu, Guilaine, de Belvalet, Harmony, Arveiler, Benoit, Babin, Patrick J., Lacombe, Didier, and Rooryck, Caroline

Abstract

Background Oculo-auriculo-vertebral spectrum (OAVS) is a developmental disorder involving first and second branchial arches derivatives, mainly characterised by asymmetric ear anomalies, hemifacial microsomia, ocular defects and vertebral malformations. Although numerous chromosomal abnormalities have been associated with OAVS, no causative gene has been identified so far. Objectives We aimed to identify the first causative gene for OAVS. Methods As sporadic cases are mostly described in Goldenhar syndrome, we have performed whole exome sequencing (WES) on selected affected individuals and their unaffected parents, looking for de novo mutations. Candidate gene was tested through transient knockdown experiment in zebrafish using a morpholino-based approach. A functional test was developed in cell culture in order to assess deleterious consequences of mutations. Results By WES, we identified a heterozygous nonsense mutation in one patient in the myelin transcription factor 1 (MYT1) gene. Further, we detected one heterozygous missense mutation in another patient among a cohort of 169 patients with OAVS. This gene encodes the MYT1. Functional studies by transient knockdown of myt1a, homologue of MYT1 in zebrafish, led to specific craniofacial cartilage alterations. Treatment with all-trans retinoic acid (RA), a known teratogenic agent causing OAVS, led to an upregulation of cellular endogenous MYT1 expression. Additionally, cellular wild-type MYT1 overexpression induced a downregulation of RA receptor ß (RARB), whereas mutated MYT1 did not. Conclusion We report MYT1 as the first gene implicated in OAVS, within the RA signalling pathway. [ABSTRACT FROM AUTHOR]

Published
2016
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24. TheDYRK1Agene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy

Author

Courcet, Jean-Benoît, primary, Faivre, Laurence, additional, Malzac, Perrine, additional, Masurel-Paulet, Alice, additional, Lopez, Estelle, additional, Callier, Patrick, additional, Lambert, Laetitia, additional, Lemesle, Martine, additional, Thevenon, Julien, additional, Gigot, Nadège, additional, Duplomb, Laurence, additional, Ragon, Clémence, additional, Marle, Nathalie, additional, Mosca-Boidron, Anne-Laure, additional, Huet, Frédéric, additional, Philippe, Christophe, additional, Moncla, Anne, additional, and Thauvin-Robinet, Christel, additional

Published
2012
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25. IntragenicCAMTA1rearrangements cause non-progressive congenital ataxia with or without intellectual disability

Author

Thevenon, Julien, primary, Lopez, Estelle, additional, Keren, Boris, additional, Heron, Delphine, additional, Mignot, Cyril, additional, Altuzarra, Cecilia, additional, Béri-Dexheimer, Mylène, additional, Bonnet, Céline, additional, Magnin, Eloi, additional, Burglen, Lydie, additional, Minot, Delphine, additional, Vigneron, Jacqueline, additional, Morle, Sophie, additional, Anheim, Mathieu, additional, Charles, Perrine, additional, Brice, Alexis, additional, Gallagher, Louise, additional, Amiel, Jeanne, additional, Haffen, Emmanuel, additional, Mach, Corinne, additional, Depienne, Christel, additional, Doummar, Diane, additional, Bonnet, Marlène, additional, Duplomb, Laurence, additional, Carmignac, Virginie, additional, Callier, Patrick, additional, Marle, Nathalie, additional, Mosca-Boidron, Anne-Laure, additional, Roze, Virginie, additional, Aral, Bernard, additional, Razavi, Ferechte, additional, Jonveaux, Philippe, additional, Faivre, Laurence, additional, and Thauvin-Robinet, Christel, additional

Published
2012
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29. Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes

Author

Nadège Gigot, Anne Dieux, Yannis Duffourd, Bernard Aral, Lydie Burglen, Bérénice Doray, Olivier Rosnet, Alice Goldenberg, Martijn A. Huynen, Oliver E. Blacque, Brunella Franco, André Mégarbané, Diane Doummar, Ernie M.H.F. Bongers, Anne Fargeot-Espaliat, Clarisse Baumann, Judith St-Onge, Daniel Birnbaum, Sophie Saunier, Thibaut Eguether, Jean-François Deleuze, Estelle Lopez, Dominique Gaillard, Geneviève Pierquin, Shubha R. Phadke, Michel R. Leroux, Rachel H. Giles, Tania Attié-Bitach, Jaclyn S. Goldstein, Isabelle Desguerres, Elisabeth Steichen-Gersdorf, Brigitte Gilbert-Dussardier, Manuela Morleo, Jesús Argente, Jean Baptiste Rivière, Gregory J. Pazour, Christel Thauvin-Robinet, Julien Thevenon, Albert David, Maxence V. Nachury, Laurence Faivre, Philippe Loget, Véronique Chevrier, Bruno Reversade, Laurence Jego, Ange Line Bruel, Vicente Herranz-Pérez, Laurent Pasquier, Colin A. Johnson, John B. Wallingford, Valérie Cormier-Daire, Inusha Panigrahi, Equipe GAD (LNC - U1231), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Institut d'Astrophysique et de Géophysique [Liège], Université de Liège, FHU TRANSLAD (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Lipides - Nutrition - Cancer (U866) (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Ecole Nationale Supérieure de Biologie Appliquée à la Nutrition et à l'Alimentation de Dijon (ENSBANA), Génétique des Anomalies du Développement (GAD), Université de Bourgogne (UB)-IFR100 - Structure fédérative de recherche Santé-STIC, Centre National de Génotypage (CNG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Service: neuropédiatrie pathologie du développement, Université Pierre et Marie Curie - Paris 6 (UPMC), University Medical Center [Utrecht], University of Leeds, Radboud University [Nijmegen], Centre de Recherche en Cancérologie de Marseille (CRCM), Aix Marseille Université (AMU)-Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de Génétique Humaine, Université de Liège-CHU Liège, Service de Génétique, Hôpital de Hautepierre [Strasbourg], Génétique Médicale, Centre hospitalier universitaire de Poitiers (CHU Poitiers)-Centre de Référence Anomalies du Développement Ouest, Laboratory of Human Embryology and Genetics, Institute of Medical Biology, Singapore, Department of Pediatrics, Innsbruck Medical University = Medizinische Universität Innsbruck (IMU), Département de Génétique Médicale, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Advanced Pediatric Center (PGIMER), Pediatry center, Pédiatrie Neonatalogie, Centre Hospitalier Général, Brive-la-Gaillarde, Brive-la-Gaillarde, France, Service de Génétique clinique, Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Dauphine Recherches en Management - MLAB (DRM - MLAB), Dauphine Recherches en Management (DRM), Université Paris Dauphine-PSL, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Dauphine-PSL, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS), Service de génétique [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Department of human genetics, Radboud University Medical Center [Nijmegen]-Nijmegen Centre for Molecular Life Sciences-Institute for Genetic and Metabolic Disorders, Centre de génétique et Centre de référence maladies rares et anomalies du développement et syndromes malformatifs du Centre Est, Département de Génétique et Procréation UF-Hôpital Couple Enfant de Grenoble-CHU Grenoble, Hospital Universitario La Paz, Laboratoire de Génétique Chromosomique et Moléculaire [CHU Dijon], FHU TRANSLAD, Département de Génétique, Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India, Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Imagerie intégrative de la molécule à l'organisme, Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'anatomie et cytologie pathologiques [Rennes] = Anatomy and Cytopathology [Rennes], CHU Pontchaillou [Rennes], Neuropathies héréditaires et rein en développement, Institut National de la Santé et de la Recherche Médicale (INSERM), Unité de génétique médicale, Université Saint-Joseph de Beyrouth (USJ)-Institut National de la Santé et de la Recherche Médicale (INSERM), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Lipides - Nutrition - Cancer [Dijon - U1231] ( LNC ), Université de Bourgogne ( UB ) -AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université de Bourgogne ( UB ) -AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale ( INSERM ), FHU TRANSLAD, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand ( CHU Dijon ), Lipides - Nutrition - Cancer (U866) ( LNC ), Université de Bourgogne ( UB ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Ecole Nationale Supérieure de Biologie Appliquée à la Nutrition et à l'Alimentation de Dijon ( ENSBANA ), Génétique des Anomalies du Développement ( GAD ), IFR100 - Structure fédérative de recherche Santé-STIC-Université de Bourgogne ( UB ), Centre National de Génotypage ( CNG ), Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ), Université Pierre et Marie Curie - Paris 6 ( UPMC ), Department of Nephrology and Hypertension, University Medical Center Utrecht, Utrecht, The Netherlands, Section of Ophthalmology and Neurosciences, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, UK, Radboud university [Nijmegen], Centre de Recherche en Cancérologie de Marseille ( CRCM ), Aix Marseille Université ( AMU ) -Institut Paoli-Calmettes-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Service de neuropédiatrie et pathologie du développement, Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Trousseau [APHP], Service de neurométabolisme, Hôpital Necker-Enfants Malades, CHU, Paris, France, CHU de Poitiers-Centre de Référence Anomalies du Développement Ouest, Innsbruck Medical University [Austria] ( IMU ), Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Robert Debré, Advanced Pediatric Center ( PGIMER ), Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] ( CHRU Lille ), Dauphine Recherches en Management - MLAB ( DRM - MLAB ), Dauphine Recherches en Management ( DRM ), Université Paris-Dauphine-Centre National de la Recherche Scientifique ( CNRS ) -Université Paris-Dauphine-Centre National de la Recherche Scientifique ( CNRS ), CHU Rouen-Université de Rouen Normandie ( UNIROUEN ), Normandie Université ( NU ) -Normandie Université ( NU ), Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement ( Inserm U781 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -INSTITUT CURIE, Service d'anatomie et cytologie pathologiques [Rennes], Université de Rennes 1 ( UR1 ), Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Institut National de la Santé et de la Recherche Médicale ( INSERM ), Université Saint-Joseph de Beyrouth ( USJ ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Imagine - Institut des maladies génétiques ( IMAGINE - U1163 ), Centre National de la Recherche Scientifique ( CNRS ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris Descartes - Paris 5 ( UPD5 ), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Aix Marseille Université (AMU), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Trousseau [APHP], Innsbruck Medical University [Austria] (IMU), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Robert Debré, Centre National de la Recherche Scientifique (CNRS)-Université Paris Dauphine-PSL-Centre National de la Recherche Scientifique (CNRS)-Université Paris Dauphine-PSL, Institut Curie-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Bourgogne (UB)-Ecole Nationale Supérieure de Biologie Appliquée à la Nutrition et à l'Alimentation de Dijon (ENSBANA)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Bruel, Ange Line, Franco, Brunella, Duffourd, Yanni, Thevenon, Julien, Jego, Laurence, Lopez, Estelle, Deleuze, Jean Françoi, Doummar, Diane, Giles, Rachel H, Johnson, Colin A, Huynen, Martijn A, Chevrier, Véronique, Burglen, Lydie, Morleo, Manuela, Desguerres, Isabelle, Pierquin, Geneviève, Doray, Bérénice, Gilbert Dussardier, Brigitte, Reversade, Bruno, Steichen Gersdorf, Elisabeth, Baumann, Clarisse, Panigrahi, Inusha, Fargeot Espaliat, Anne, Dieux, Anne, David, Albert, Goldenberg, Alice, Bongers, Ernie, Gaillard, Dominique, Argente, Jesú, Aral, Bernard, Gigot, Nadège, St Onge, Judith, Birnbaum, Daniel, Phadke, Shubha R, Cormier Daire, Valérie, Eguether, Thibaut, Pazour, Gregory J, Herranz Pérez, Vicente, Goldstein, Jaclyn S, Pasquier, Laurent, Loget, Philippe, Saunier, Sophie, Mégarbané, André, Rosnet, Olivier, Leroux, Michel R, Wallingford, John B, Blacque, Oliver E, Nachury, Maxence V, Attie Bitach, Tania, Rivière, Jean Baptiste, Faivre, Laurence, Thauvin Robinet, Christel, Bruel, Al, Franco, B, Duffourd, Y, Thevenon, J, Jego, L, Lopez, E, Deleuze, Jf, Doummar, D, Giles, Rh, Johnson, Ca, Huynen, Ma, 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, Sr, Cormier-Daire, V, Eguether, T, Pazour, Gj, Herranz-Perez, V, Goldstein, J, Pasquier, L, Loget, P, Saunier, S, Megarbane, A, Rosnet, O, Leroux, Mr, Wallingford, Jb, Blacque, Oe, Nachury, Mv, Attie-Bitach, T, Riviere, Jb, Faivre, L, and Thauvin-Robinet, C

Subjects
Male, 0301 basic medicine, Heterozygote, ciliopathie, Oral facial digital, [SDV]Life Sciences [q-bio], [ SDV.BBM.BM ] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, Biology, Ciliopathies, Centriole elongation, 03 medical and health sciences, Intraflagellar transport, Genotype, Genetics, Polycystic kidney disease, medicine, Humans, Abnormalities, Multiple, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Functional studies, [ SDV.BBM ] Life Sciences [q-bio]/Biochemistry, Molecular Biology, Gene, oral-facial-digital syndromes, Genetics (clinical), ComputingMilieux_MISCELLANEOUS, Encephalocele, Polycystic Kidney Diseases, [ SDV ] Life Sciences [q-bio], ciliopathies, Proteins, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, Orofaciodigital Syndromes, medicine.disease, 030104 developmental biology, Face, Mutation, Female, Retinitis Pigmentosa, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Ciliary Motility Disorders
Abstract

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 theOFD1gene 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,KIAA0753andIFT57) and related the clinical spectrum of four genes in other ciliopathies (C5orf42,TMEM138,TMEM231andWDPCP) 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.

Published
2017
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