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2. Whole exome sequencing in a cohort of familial premature ovarian insufficiency cases reveals a broad array of pathogenic or likely pathogenic variants in 50% of families

Author

Rouen, Alexandre, Rogers, Eli, Kerlan, Véronique, Delemer, Brigitte, Catteau-Jonard, Sophie, Reznik, Yves, Gompel, Anne, Cedrin, Isabelle, Guedj, Anne-Marie, Grouthier, Virginie, Brue, Thierry, Pienkowski, Catherine, Bachelot, Anne, Chantot-Bastaraud, Sandra, Rousseau, Alexandra, Simon, Tabassome, Kott, Esther, Siffroi, Jean-Pierre, Touraine, Philippe, and Christin-Maitre, Sophie

Published
2022
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3. Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies

Author

Portnoi, Marie-France, Dumargne, Marie-Charlotte, Rojo, Sandra, Witchel, Selma F, Duncan, Andrew J, Eozenou, Caroline, Bignon-Topalovic, Joelle, Yatsenko, Svetlana A, Rajkovic, Aleksandar, Reyes-Mugica, Miguel, Almstrup, Kristian, Fusee, Leila, Srivastava, Yogesh, Chantot-Bastaraud, Sandra, Hyon, Capucine, Louis-Sylvestre, Christine, Validire, Pierre, de Malleray Pichard, Caroline, Ravel, Celia, Christin-Maitre, Sophie, Brauner, Raja, Rossetti, Raffaella, Persani, Luca, Charreau, Eduardo H, Dain, Liliana, Chiauzzi, Violeta A, Mazen, Inas, Rouba, Hassan, Schluth-Bolard, Caroline, MacGowan, Stuart, McLean, WH Irwin, Patin, Etienne, Meyts, Ewa Rajpert-De, Jauch, Ralf, Achermann, John C, Siffroi, Jean-Pierre, McElreavey, Ken, and Bashamboo, Anu

Subjects
Rare Diseases, Contraception/Reproduction, Infertility, Clinical Research, Genetics, Aetiology, 2.1 Biological and endogenous factors, Reproductive health and childbirth, 46, XX Disorders of Sex Development, Adolescent, Child, Disorder of Sex Development, 46, XY, Female, Humans, Male, Mutation, Missense, Oligospermia, Primary Ovarian Insufficiency, SOXE Transcription Factors, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

SOX8 is an HMG-box transcription factor closely related to SRY and SOX9. Deletion of the gene encoding Sox8 in mice causes reproductive dysfunction but the role of SOX8 in humans is unknown. Here, we show that SOX8 is expressed in the somatic cells of the early developing gonad in the human and influences human sex determination. We identified two individuals with 46, XY disorders/differences in sex development (DSD) and chromosomal rearrangements encompassing the SOX8 locus and a third individual with 46, XY DSD and a missense mutation in the HMG-box of SOX8. In vitro functional assays indicate that this mutation alters the biological activity of the protein. As an emerging body of evidence suggests that DSDs and infertility can have common etiologies, we also analysed SOX8 in a cohort of infertile men (n = 274) and two independent cohorts of women with primary ovarian insufficiency (POI; n = 153 and n = 104). SOX8 mutations were found at increased frequency in oligozoospermic men (3.5%; P

Published
2018

5. Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol)

Author

Fiot, Elodie, Alauze, Bertille, Donadille, Bruno, Samara-Boustani, Dinane, Houang, Muriel, De Filippo, Gianpaolo, Bachelot, Anne, Delcour, Clemence, Beyler, Constance, Bois, Emilie, Bourrat, Emmanuelle, Bui Quoc, Emmanuel, Bourcigaux, Nathalie, Chaussain, Catherine, Cohen, Ariel, Cohen-Solal, Martine, Da Costa, Sabrina, Dossier, Claire, Ederhy, Stephane, Elmaleh, Monique, Iserin, Laurence, Lengliné, Hélène, Poujol-Robert, Armelle, Roulot, Dominique, Viala, Jerome, Albarel, Frederique, Bismuth, Elise, Bernard, Valérie, Bouvattier, Claire, Brac, Aude, Bretones, Patricia, Chabbert-Buffet, Nathalie, Chanson, Philippe, Coutant, Regis, de Warren, Marguerite, Demaret, Béatrice, Duranteau, Lise, Eustache, Florence, Gautheret, Lydie, Gelwane, Georges, Gourbesville, Claire, Grynberg, Mickaël, Gueniche, Karinne, Jorgensen, Carina, Kerlan, Veronique, Lebrun, Charlotte, Lefevre, Christine, Lorenzini, Françoise, Manouvrier, Sylvie, Pienkowski, Catherine, Reynaud, Rachel, Reznik, Yves, Siffroi, Jean-Pierre, Tabet, Anne-Claude, Tauber, Maithé, Vautier, Vanessa, Tauveron, Igor, Wambre, Sebastien, Zenaty, Delphine, Netchine, Irène, Polak, Michel, Touraine, Philippe, Carel, Jean-Claude, Christin-Maitre, Sophie, and Léger, Juliane

Published
2022
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8. Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

Author

McElreavey, Ken, Jorgensen, Anne, Eozenou, Caroline, Merel, Tiphanie, Bignon-Topalovic, Joelle, Tan, Daisylyn Senna, Houzelstein, Denis, Buonocore, Federica, Warr, Nick, Kay, Raissa G. G., Peycelon, Matthieu, Siffroi, Jean-Pierre, Mazen, Inas, Achermann, John C., Shcherbak, Yuliya, Leger, Juliane, Sallai, Agnes, Carel, Jean-Claude, Martinerie, Laetitia, Le Ru, Romain, Conway, Gerard S., Mignot, Brigitte, Van Maldergem, Lionel, Bertalan, Rita, Globa, Evgenia, Brauner, Raja, Jauch, Ralf, Nef, Serge, Greenfield, Andy, and Bashamboo, Anu

Published
2020
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9. Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia.

Author

Thomas, Lucie, Cuisset, Laurence, Papon, Jean-Francois, Tamalet, Aline, Pin, Isabelle, Taam, Rola Abou, Faucon, Catherine, Montantin, Guy, Tissier, Sylvie, Duquesnoy, Philippe, Moal, Florence Dastot - Le, Copin, Bruno, Carion, Nathalie, Louis, Bruno, Chantot-Bastaraud, Sandra, Siffroi, Jean-Pierre, Mitri, Rana, Coste, André, Escudier, Estelle, and Thouvenin, Guillaume

Abstract

Background Primary ciliary dyskinesia (PCD) is a rare airway disorder caused by defective motile cilia. Only male patients have been reported with pathogenic mutations in X-linked DNAAF6, which result in the absence of ciliary dynein arms, whereas their heterozygous mothers are supposedly healthy. Our objective was to assess the possible clinical and ciliary consequences of X-chromosome inactivation (XCI) in these mothers. Methods XCI patterns of six mothers of male patients with DNAAF6-related PCD were determined by DNA-methylation studies and compared with their clinical phenotype (6/6 mothers), as well as their ciliary phenotype (4/6 mothers), as assessed by immunofluorescence and high-speed videomicroscopy analyses. The mutated X chromosome was tracked to assess the percentage of cells with a normal inactivated DNAAF6 allele. Results The mothers' phenotypes ranged from absence of symptoms to mild/moderate or severe airway phenotypes, closely reflecting their XCI pattern. Analyses of the symptomatic mothers' airway ciliated cells revealed the coexistence of normal cells and cells with immotile cilia lacking dynein arms, whose ratio closely mirrored their XCI pattern. Conclusion This study highlights the importance of searching for heterozygous pathogenic DNAAF6 mutations in all female relatives of male PCD patients with a DNAAF6 defect, as well as in females consulting for mild chronic respiratory symptoms. Our results also demonstrate that about one-third--ranging from 20% to 50%--normal ciliated airway cells sufficed to avoid severe PCD, a result paving the way for gene therapy. [ABSTRACT FROM AUTHOR]

Published
2024
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10. Different Nuclear Architecture in Human Sperm According to Their Morphology.

Author

Cassuto, Nino-Guy, Ogal, Nesrine, Assou, Said, Ruoso, Lea, Rogers, Eli-Jonathan, Monteiro, Miguel-José, Thomas, Daniel, Siffroi, Jean-Pierre, and Rouen, Alexandre

Subjects
MORPHOLOGY, REPRODUCTIVE technology, SPERMATOZOA, FLUORESCENCE in situ hybridization, MALE infertility, FERTILITY
Abstract

Human sperm parameters serve as a first step in diagnosing male infertility, but not in determining the potential for successful pregnancy during assisted reproductive technologies (ARTs) procedures. Here, we investigated the relationship between sperm head morphology at high magnification, based on strict morphologic criteria, and the nuclear architecture analyzed by fluorescence in situ hybridization (FISH). We included five men. Two of them had an elevated high-magnification morphology score of 6 points (Score 6) indicating high fertility potential, whereas three had a low score of 0 points (Score 0), indicating low fertility potential. We used FISH to study the inter-telomeric distance and the chromosomal territory area of chromosome 1 (Chr. 1). We then compared these two parameters between subjects with high and low scores. FISH data analysis showed that the inter-telomeric distance (ITD) and chromosomal territory area (CTA) of Chr. 1 were significantly higher in subjects with low scores (score 0) than high scores (score 6). Our results suggest that (i) there is a link between nuclear architecture and sperm head abnormalities, particularly vacuoles; and (ii) it is possible to select spermatozoa with normal nuclear architecture, which might indirectly explain the positive ART outcomes observed with this technique. [ABSTRACT FROM AUTHOR]

Published
2024
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14. Aortic Tissue Analysis in Turner Syndrome

Author

Donadille, Bruno, primary, Valent, Alexander, additional, Amemiya, Kisaki, additional, Rive le Gouard, Nicolas, additional, Iserin, Laurence, additional, Achouh, Paul, additional, Lecot-Connan, Tatiana, additional, Bruneval, Patrick, additional, Siffroi, Jean-Pierre, additional, and Christin-Maitre, Sophie, additional

Published
2022
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16. Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum

Author

Vibert, Roseline, primary, Mignot, Cyril, additional, Keren, Boris, additional, Chantot‐Bastaraud, Sandra, additional, Portnoï, Marie‐France, additional, Nouguès, Marie‐Christine, additional, Moutard, Marie‐Laure, additional, Faudet, Anne, additional, Whalen, Sandra, additional, Haye, Damien, additional, Garel, Catherine, additional, Chatron, Nicolas, additional, Rossi, Massimiliano, additional, Vincent‐Delorme, Catherine, additional, Boute, Odile, additional, Delobel, Bruno, additional, Andrieux, Joris, additional, Devillard, Françoise, additional, Coutton, Charles, additional, Puechberty, Jacques, additional, Pebrel‐Richard, Céline, additional, Colson, Cindy, additional, Gerard, Marion, additional, Missirian, Chantal, additional, Sigaudy, Sabine, additional, Busa, Tiffany, additional, Doco‐Fenzy, Martine, additional, Malan, Valérie, additional, Rio, Marlène, additional, Doray, Bérénice, additional, Sanlaville, Damien, additional, Siffroi, Jean‐Pierre, additional, Héron, Delphine, additional, and Heide, Solveig, additional

Published
2021
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18. Molecular Profiling of Spermatozoa Reveals Correlations between Morphology and Gene Expression: A Novel Biomarker Panel for Male Infertility

Author

Cassuto, Nino Guy, primary, Piquemal, David, additional, Boitrelle, Florence, additional, Larue, Lionel, additional, Lédée, Nathalie, additional, Hatem, Ghada, additional, Ruoso, Léa, additional, Bouret, Dominique, additional, Siffroi, Jean-Pierre, additional, Rouen, Alexandre, additional, and Assou, Said, additional

Published
2021
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19. Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1

Author

Bashamboo, Anu, Ferraz-de-Souza, Bruno, Lourenco, Diana, Lin Lin, Sebire, Neil J., Montjean, Debbie, Bignon-Topalovic, Joelle, Mandelbaum, Jacqueline, Siffroi, Jean-Pierre, Christin-Maitre, Sophie, Radhakrishna, Uppala, Rouba, Hassan, Ravel, Celia, Seeler, Jacob, Achermann, John C., and McElreavey, Ken

Subjects
Gene mutations -- Analysis, Human genome -- Research, Infertility, Male -- Genetic aspects, Spermatogenesis -- Research, Biological sciences
Abstract

The NR5A1 (also called steroidogenic factor 1) gene is sequenced in a sample of men with idiopathic spermatogenic failure to examine its role in male infertility. Results reveal that mutations in NR5A1 are associated with male infertility in about 4% of the sample studied.

Published
2010

21. SRY-negative 46,XX testicular/ovotesticular DSD: Long-term outcomes and early blockade of gonadotropic axis

Author

Lambert, Sophie, Peycelon, Matthieu, Samara-Boustani, Dinane, Hyon, Capucine, Dumeige, Laurence, Peuchmaur, Michel, Fiot, Elodie, Léger, Juliane, Simon, Dominique, Paye-Jaouen, Annabel, Bouligand, Jérome, Siffroi, Jean Pierre, Carel, Jean-Claude, McElreavey, Ken, El Ghoneimi, Alaa, Brachet, Cécile, Bouvattier, Claire, Martinerie, Laetitia, Lambert, Sophie, Peycelon, Matthieu, Samara-Boustani, Dinane, Hyon, Capucine, Dumeige, Laurence, Peuchmaur, Michel, Fiot, Elodie, Léger, Juliane, Simon, Dominique, Paye-Jaouen, Annabel, Bouligand, Jérome, Siffroi, Jean Pierre, Carel, Jean-Claude, McElreavey, Ken, El Ghoneimi, Alaa, Brachet, Cécile, Bouvattier, Claire, and Martinerie, Laetitia

Abstract

Objective: SRY-negative 46,XX testicular and ovotesticular disorders/differences of sex development (T/OTDSD) represent a very rare and unique DSD condition where testicular tissue develops in the absence of a Y chromosome. To date, very few studies have described the phenotype, clinical and surgical management and long-term outcomes of these patients. Particularly, early blockade of the gonadotropic axis in patients raised in the female gender to minimize postnatal androgenization has never been reported. Design: Retrospective description of sixteen 46,XX T/OTDSD patients. Results: Sixteen 46,XX SRY-negative T/OTDSD were included. Most (12/16) were diagnosed in the neonatal period. Sex of rearing was male for six patients and female for ten, while the clinical presentation varied, with an external masculinization score from 1 to 10. Five patients raised as girl were successfully treated with GnRH analog to avoid virilization during minipuberty. Ovotestes/testes were found bilaterally for 54% of the patients and unilaterally for the others (with a contralateral ovary). Gonadal surgery preserved appropriate tissue in the majority of cases. Spontaneous puberty occurred in two girls and one boy, while two boys required hormonal induction of puberty. One of the girls conceived spontaneously and had an uneventful pregnancy. DNA analyses (SNP-array, next-generation sequencing and whole-exome sequencing) were performed. A heterozygous frameshit mutation in the NR2F2 gene was identified in one patient. Conclusions: This study presents a population of patients with 46,XX SRY-negative T/OTDSD. Early blockade of gonadotropic axis appears efficient to reduce and avoid further androgenization in patients raised as girls., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2020

29. Alternative centromeric inactivation in a pseudodicentric t(Y;13) (q12;p11.2) translocation chromosome associated with extreme oligozoospermia. (Letters to the editor)

Author

Benzacken, Brigitte, Siffroi, Jean Pierre, Bourhis, Corine Le, Angelopoulou, Roxani, Berthaut, Isabelle, Kanafani, Samia, Smahi, Asmae, Wolf, Jean Philippe, and Dadoune, Jean Pierre

Subjects
Genetic disorders -- Research, Health
Abstract

Here we describe a de novo dicentric Y;13 (q12;p11) translocation chromosome found in a severely oligozoospermic patient and exhibiting a variable pattern of centromeric activity, as defined by the localisation [...]

Published
2001

30. Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

Author

Burglen Lydie, Chantot-Bastaraud Sandra, Garel Catherine, Milh Mathieu, Touraine Renaud, Zanni Ginevra, Petit Florence, Afenjar Alexandra, Goizet Cyril, Barresi Sabina, Coussement Aurélie, Ioos Christine, Lazaro Leila, Joriot Sylvie, Desguerre Isabelle, Lacombe Didier, des Portes Vincent, Bertini Enrico, Siffroi Jean-Pierre, Billette de Villemeur Thierry, and Rodriguez Diana

Subjects
Pontocerebellar hypoplasia, Microcephaly, CASK gene, Mosaicism, Array-CGH, Medicine
Abstract

Abstract Background Pontocerebellar hypoplasia (PCH) is a heterogeneous group of diseases characterized by lack of development and/or early neurodegeneration of cerebellum and brainstem. According to clinical features, seven subtypes of PCH have been described, PCH type 2 related to TSEN54 mutations being the most frequent. PCH is most often autosomal recessive though de novo anomalies in the X-linked gene CASK have recently been identified in patients, mostly females, presenting with intellectual disability, microcephaly and PCH (MICPCH). Methods Fourteen patients (12 females and two males; aged 16 months-14 years) presenting with PCH at neuroimaging and with clinical characteristics unsuggestive of PCH1 or PCH2 were included. The CASK gene screening was performed using Array-CGH and sequencing. Clinical and neuroradiological features were collected. Results We observed a high frequency of patients with a CASK mutation (13/14). Ten patients (8 girls and 2 boys) had intragenic mutations and three female patients had a Xp11.4 submicroscopic deletion including the CASK gene. All were de novo mutations. Phenotype was variable in severity but highly similar among the 11 girls and was characterized by psychomotor retardation, severe intellectual disability, progressive microcephaly, dystonia, mild dysmorphism, and scoliosis. Other signs were frequently associated, such as growth retardation, ophthalmologic anomalies (glaucoma, megalocornea and optic atrophy), deafness and epilepsy. As expected in an X-linked disease manifesting mainly in females, the boy hemizygous for a splice mutation had a very severe phenotype with nearly no development and refractory epilepsy. We described a mild phenotype in a boy with a mosaic truncating mutation. We found some degree of correlation between severity of the vermis hypoplasia and clinical phenotype. Conclusion This study describes a new series of PCH female patients with CASK inactivating mutations and confirms that these patients have a recognizable although variable phenotype consisting of a specific form of pontocerebellar hypoplasia. In addition, we report the second male patient to present with a severe MICPCH phenotype and a de novo CASK mutation and describe for the first time a mildly affected male patient harboring a mosaic mutation. In our reference centre, CASK related PCH is the second most frequent cause of PCH. The identification of a de novo mutation in these patients enables accurate and reassuring genetic counselling.

Published
2012
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31. Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia

Author

Whitfield, Marjorie, primary, Thomas, Lucie, additional, Bequignon, Emilie, additional, Schmitt, Alain, additional, Stouvenel, Laurence, additional, Montantin, Guy, additional, Tissier, Sylvie, additional, Duquesnoy, Philippe, additional, Copin, Bruno, additional, Chantot, Sandra, additional, Dastot, Florence, additional, Faucon, Catherine, additional, Barbotin, Anne Laure, additional, Loyens, Anne, additional, Siffroi, Jean-Pierre, additional, Papon, Jean-François, additional, Escudier, Estelle, additional, Amselem, Serge, additional, Mitchell, Valérie, additional, Touré, Aminata, additional, and Legendre, Marie, additional

Published
2019
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32. The NLRP3 p.A441V Mutation in NLRP3 ‐AID Pathogenesis: Functional Consequences, Phenotype‐Genotype Correlations and Evidence for a Recurrent Mutational Event

Author

Awad, Fawaz, primary, Assrawi, Eman, additional, Jumeau, Claire, additional, Odent, Sylvie, additional, Despert, Veronique, additional, Cam, Gérard, additional, Perdriger, Aleth, additional, Louvrier, Camille, additional, Cobret, Laetitia, additional, Copin, Bruno, additional, Chantot‐Bastaraud, Sandra, additional, Duquesnoy, Philippe, additional, Piterboth, William, additional, Le Jeunne, Claire, additional, Quenum‐Miraillet, Genevieve, additional, Siffroi, Jean Pierre, additional, Georgin‐Lavialle, Sophie, additional, Grateau, Gilles, additional, Legendre, Marie, additional, Giurgea, Irina, additional, Karabina, Sonia‐Athina, additional, and Amselem, Serge, additional

Published
2019
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33. Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

Author

Schluth-Bolard, Caroline, primary, Diguet, Flavie, additional, Chatron, Nicolas, additional, Rollat-Farnier, Pierre-Antoine, additional, Bardel, Claire, additional, Afenjar, Alexandra, additional, Amblard, Florence, additional, Amiel, Jeanne, additional, Blesson, Sophie, additional, Callier, Patrick, additional, Capri, Yline, additional, Collignon, Patrick, additional, Cordier, Marie-Pierre, additional, Coubes, Christine, additional, Demeer, Benedicte, additional, Chaussenot, Annabelle, additional, Demurger, Florence, additional, Devillard, Françoise, additional, Doco-Fenzy, Martine, additional, Dupont, Céline, additional, Dupont, Jean-Michel, additional, Dupuis-Girod, Sophie, additional, Faivre, Laurence, additional, Gilbert-Dussardier, Brigitte, additional, Guerrot, Anne-Marie, additional, Houlier, Marine, additional, Isidor, Bertrand, additional, Jaillard, Sylvie, additional, Joly-Hélas, Géraldine, additional, Kremer, Valérie, additional, Lacombe, Didier, additional, Le Caignec, Cédric, additional, Lebbar, Aziza, additional, Lebrun, Marine, additional, Lesca, Gaetan, additional, Lespinasse, James, additional, Levy, Jonathan, additional, Malan, Valérie, additional, Mathieu-Dramard, Michele, additional, Masson, Julie, additional, Masurel-Paulet, Alice, additional, Mignot, Cyril, additional, Missirian, Chantal, additional, Morice-Picard, Fanny, additional, Moutton, Sébastien, additional, Nadeau, Gwenaël, additional, Pebrel-Richard, Céline, additional, Odent, Sylvie, additional, Paquis-Flucklinger, Véronique, additional, Pasquier, Laurent, additional, Philip, Nicole, additional, Plutino, Morgane, additional, Pons, Linda, additional, Portnoï, Marie-France, additional, Prieur, Fabienne, additional, Puechberty, Jacques, additional, Putoux, Audrey, additional, Rio, Marlène, additional, Rooryck-Thambo, Caroline, additional, Rossi, Massimiliano, additional, Sarret, Catherine, additional, Satre, Véronique, additional, Siffroi, Jean-Pierre, additional, Till, Marianne, additional, Touraine, Renaud, additional, Toutain, Annick, additional, Toutain, Jérome, additional, Valence, Stéphanie, additional, Verloes, Alain, additional, Whalen, Sandra, additional, Edery, Patrick, additional, Tabet, Anne-Claude, additional, and Sanlaville, Damien, additional

Published
2019
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36. Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences

Author

Heide, Solveig, Heinrichs, Claudine, Newfield, Ron R.S., Sarda, Pierre, Van Maldergem, Lionel, Trifard, Véronique, Giabicani, Eloise, Siffroi, Jean Pierre, Le Bouc, Yves, Netchine, Irène, Brioude, Frédéric, Chantot-Bastaraud, Sandra, Keren, Boris, Harbison, Madeleine M.D., Azzi, Salah, Rossignol, Sylvie, Michot, Caroline, Lackmy-Port Lys, Marilyn, Demeer, Bénédicte, Heide, Solveig, Heinrichs, Claudine, Newfield, Ron R.S., Sarda, Pierre, Van Maldergem, Lionel, Trifard, Véronique, Giabicani, Eloise, Siffroi, Jean Pierre, Le Bouc, Yves, Netchine, Irène, Brioude, Frédéric, Chantot-Bastaraud, Sandra, Keren, Boris, Harbison, Madeleine M.D., Azzi, Salah, Rossignol, Sylvie, Michot, Caroline, Lackmy-Port Lys, Marilyn, and Demeer, Bénédicte

Abstract

Background The 11p15 region contains two clusters of imprinted genes. Opposite genetic and epigenetic anomalies of this region result in two distinct growth disturbance syndromes: Beckwith-Wiedemann (BWS) and Silver-Russell syndromes (SRS). Cytogenetic rearrangements within this region represent less than 3% of SRS and BWS cases. Among these, 11p15 duplications were infrequently reported and interpretation of their pathogenic effects is complex. Objectives To report cytogenetic and methylation analyses in a cohort of patients with SRS/BWS carrying 11p15 duplications and establish genotype/phenotype correlations. Methods From a cohort of patients with SRS/BWS with an abnormal methylation profile (using ASMM-RTQ-PCR), we used SNP-arrays to identify and map the 11p15 duplications. We report 19 new patients with SRS (n=9) and BWS (n=10) carrying de novo or familial 11p15 duplications, which completely or partially span either both telomeric and centromeric domains or only one domain. Results Large duplications involving one complete domain or both domains are associated with either SRS or BWS, depending on the parental origin of the duplication. Genotype-phenotype correlation studies of partial duplications within the telomeric domain demonstrate the prominent role of IGF2, rather than H19, in the control of growth. Furthermore, it highlights the role of CDKN1C within the centromeric domain and suggests that the expected overexpression of KCNQ1OT1 from the paternal allele (in partial paternal duplications, excluding CDKN1C) does not affect the expression of CDKN1C. Conclusions The phenotype associated with 11p15 duplications depends on the size, genetic content, parental inheritance and imprinting status. Identification of these rare duplications is crucial for genetic counselling., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2018

37. Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children

Author

Bashamboo, Anu, primary, Eozenou, Caroline, additional, Jorgensen, Anne, additional, Bignon-Topalovic, Joelle, additional, Siffroi, Jean-Pierre, additional, Hyon, Capucine, additional, Tar, Attila, additional, Nagy, Péter, additional, Sólyom, Janos, additional, Halász, Zita, additional, Paye-Jaouen, Annnabel, additional, Lambert, Sophie, additional, Rodriguez-Buritica, David, additional, Bertalan, Rita, additional, Martinerie, Laetitia, additional, Rajpert-De Meyts, Ewa, additional, Achermann, John C., additional, and McElreavey, Ken, additional

Published
2018
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39. Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences

Author

Heide, Solveig, primary, Chantot-Bastaraud, Sandra, additional, Keren, Boris, additional, Harbison, Madeleine D, additional, Azzi, Salah, additional, Rossignol, Sylvie, additional, Michot, Caroline, additional, Lackmy-Port Lys, Marilyn, additional, Demeer, Bénédicte, additional, Heinrichs, Claudine, additional, Newfield, Ron S, additional, Sarda, Pierre, additional, Van Maldergem, Lionel, additional, Trifard, Véronique, additional, Giabicani, Eloise, additional, Siffroi, Jean-Pierre, additional, Le Bouc, Yves, additional, Netchine, Irène, additional, and Brioude, Frédéric, additional

Published
2017
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40. Functional Human Beige Adipocytes From Induced Pluripotent Stem Cells

Author

Guénantin, Anne-Claire, primary, Briand, Nolwenn, additional, Capel, Emilie, additional, Dumont, Florent, additional, Morichon, Romain, additional, Provost, Claire, additional, Stillitano, Francesca, additional, Jeziorowska, Dorota, additional, Siffroi, Jean-Pierre, additional, Hajjar, Roger J., additional, Fève, Bruno, additional, Hulot, Jean-Sébastien, additional, Collas, Philippe, additional, Capeau, Jacqueline, additional, and Vigouroux, Corinne, additional

Published
2017
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41. First Birth after Sperm Selection through Discontinuous Gradient Centrifugation and Artificial Insemination from a Chromosomal Translocation Carrier

Author

Rouen, Alexandre, Hyon, Capucine, Balet, Richard, Joyé, Nicole, Cassuto, Nino Guy, and Siffroi, Jean-Pierre

Subjects
Article Subject
Abstract

Introduction. Balanced chromosomal carriers, though usually healthy, are confronted with recurrent spontaneous abortions and malformations in the offspring. Those are related to the transmission of an abnormal, chromosomally unbalanced genotype. We evidenced that the proportion of unbalanced spermatozoa can be significantly decreased through a sperm preparation process called discontinuous gradient centrifugation (DGC). We therefore started offering intrauterine inseminations with this procedure to couples with a male translocation carriers. Case Presentation. We report the case of a 37-year-old man carrying a t(3;10)(q25;p13) reciprocal translocation. He and his partner had had trouble conceiving for ten years and had four spontaneous abortions. DGC in this patient decreased the proportion of unbalanced spermatozoa from 63.6% to 52.3%. They were therefore offered intrauterine insemination with DGC, which eventually led to the birth of a healthy female child carrying the paternal translocation. Conclusion. We showed that translocation carriers could be offered intrauterine inseminations with DGC. Before this, the only two options were natural conception with prenatal diagnosis and termination of chromosomally unbalanced fetuses or preimplantation genetic diagnosis, which is a much heavier and costly procedure. We are currently offering this option through a multicentric program in France, and this is the first birth originating from it.

Published
2014
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44. Prenatal Diagnosis of Bilateral Ectrodactyly and Radial Agenesis Associated with Trisomy 10 Mosaicism

Author

Lévy, Jonathan, Jouannic, Jean-Marie, Saada, Julien, Dhombres, Ferdinand, Siffroi, Jean-Pierre, and Portnoï, Marie-France

Subjects
Article Subject
Abstract

Ectrodactyly or split hand and foot malformations (SHFMs) are rare malformations of the limbs, characterized by median clefts of the hands and feet, syndactyly, and aplasia and/or hypoplasia of the phalanges. They represent a clinically and genetically heterogeneous disorder, with both sporadic and familial cases. Most of the genomic rearrangements identified to date in some forms of SHFM are autosomal dominant traits, involving various chromosome regions. Bilateral radial ray defects comprise also a large heterogenous group of disorders, including trisomy 18, Fanconi anemia, and thrombocytopenia-absent-radius syndrome, not commonly associated with ectrodactyly. The present paper describes a case of ectrodactyly associated with bilateral radial ray defects, diagnosed in the first trimester of pregnancy, in a fetus affected by trisomy 10. Only four cases of sporadic and isolated ectrodactyly, diagnosed by ultrasonography between 14 and 22 weeks’ gestation, have been reported. To our knowledge, the present case is the first report of mosaic trisomy 10 associated with SHFM and radial aplasia. Trisomy 10 is a rare lethal chromosomal abnormality, most frequently found in abortion products. Only six liveborn mosaic trisomy 10 infants, with severe malformations, dead in early infancy, have been reported. A severe clinical syndrome can be defined, comprising ear abnormalities, cleft lip/palate, malformations of eyes, heart, and kidneys, and deformity of hands and feet and most often associated with death neonatally or in early infancy.

Published
2013
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46. Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder

Author

Tabet, Anne-Claude, primary, Verloes, Alain, additional, Pilorge, Marion, additional, Delaby, Elsa, additional, Delorme, Richard, additional, Nygren, Gudrun, additional, Devillard, Françoise, additional, Gérard, Marion, additional, Passemard, Sandrine, additional, Héron, Delphine, additional, Siffroi, Jean-Pierre, additional, Jacquette, Aurelia, additional, Delahaye, Andrée, additional, Perrin, Laurence, additional, Dupont, Céline, additional, Aboura, Azzedine, additional, Bitoun, Pierre, additional, Coleman, Mary, additional, Leboyer, Marion, additional, Gillberg, Christopher, additional, Benzacken, Brigitte, additional, and Betancur, Catalina, additional

Published
2015
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50. Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders

Author

Nava, Caroline, primary, Keren, Boris, additional, Mignot, Cyril, additional, Rastetter, Agnès, additional, Chantot-Bastaraud, Sandra, additional, Faudet, Anne, additional, Fonteneau, Eric, additional, Amiet, Claire, additional, Laurent, Claudine, additional, Jacquette, Aurélia, additional, Whalen, Sandra, additional, Afenjar, Alexandra, additional, Périsse, Didier, additional, Doummar, Diane, additional, Dorison, Nathalie, additional, Leboyer, Marion, additional, Siffroi, Jean-Pierre, additional, Cohen, David, additional, Brice, Alexis, additional, Héron, Delphine, additional, and Depienne, Christel, additional

Published
2013
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