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Start Over Author "Sanlaville, Damien" Journal american journal of medical genetics part a
34 results on '"Sanlaville, Damien"'

1. Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases

Author

Jedraszak, Guillaume, primary, Jobic, Florence, additional, Receveur, Aline, additional, Bilan, Frédéric, additional, Gilbert‐Dussardier, Brigitte, additional, Tiffany, Busa, additional, Missirian, Chantal, additional, Willems, Marjolaine, additional, Odent, Sylvie, additional, Lucas, Josette, additional, Dubourg, Christele, additional, Schaefer, Elise, additional, Scheidecker, Sophie, additional, Lespinasse, James, additional, Goldenberg, Alice, additional, Guerrot, Anne‐Marie, additional, Joly‐Helas, Géraldine, additional, Chambon, Pascal, additional, Le Caignec, Cédric, additional, David, Albert, additional, Coutton, Charles, additional, Satre, Véronique, additional, Vieville, Gaëlle, additional, Amblard, Florence, additional, Harbuz, Radu, additional, Sanlaville, Damien, additional, Till, Marianne, additional, Vincent‐Delorme, Catherine, additional, Colson, Cindy, additional, Andrieux, Joris, additional, Naudion, Sophie, additional, Toutain, Jérome, additional, Rooryck‐Thambo, Caroline, additional, de Fréminville, Bénédicte, additional, Prieur, Fabienne, additional, Daire, Valérie Cormier, additional, Amram, Daniel, additional, Kleinfinger, Pascale, additional, Schulze, Matthias B., additional, Raabe‐Meyer, Gisela, additional, Courage, Carolina, additional, Lemke, Johannes, additional, Stefanou, Eunice G., additional, Loretta, Thomaidis, additional, Emmanouil, Manolakos, additional, Tzeli, Sophia Kitsiou, additional, Sodowska, Henryka, additional, Anderson, Jasen, additional, Nandini, Adayapalam, additional, Copin, Henri, additional, Garçon, Loïc, additional, Liehr, Thomas, additional, and Morin, Gilles, additional

Published
2023
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2. 1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

Author

Jacquin, Clémence, primary, Landais, Emilie, additional, Poirsier, Céline, additional, Afenjar, Alexandra, additional, Akhavi, Ahmad, additional, Bednarek, Nathalie, additional, Bénech, Caroline, additional, Bonnard, Adeline, additional, Bosquet, Damien, additional, Burglen, Lydie, additional, Callier, Patrick, additional, Chantot‐Bastaraud, Sandra, additional, Coubes, Christine, additional, Coutton, Charles, additional, Delobel, Bruno, additional, Descharmes, Margaux, additional, Dupont, Jean‐Michel, additional, Gatinois, Vincent, additional, Gruchy, Nicolas, additional, Guterman, Sarah, additional, Heddar, Abdelkader, additional, Herissant, Lucas, additional, Heron, Delphine, additional, Isidor, Bertrand, additional, Jaeger, Pauline, additional, Jouret, Guillaume, additional, Keren, Boris, additional, Kuentz, Paul, additional, Le Caignec, Cedric, additional, Levy, Jonathan, additional, Lopez, Nathalie, additional, Manssens, Zoe, additional, Martin‐Coignard, Dominique, additional, Marey, Isabelle, additional, Mignot, Cyril, additional, Missirian, Chantal, additional, Pebrel‐Richard, Céline, additional, Pinson, Lucile, additional, Puechberty, Jacques, additional, Redon, Sylvia, additional, Sanlaville, Damien, additional, Spodenkiewicz, Marta, additional, Tabet, Anne‐Claude, additional, Verloes, Alain, additional, Vieville, Gaelle, additional, Yardin, Catherine, additional, Vialard, François, additional, and Doco‐Fenzy, Martine, additional

Published
2022
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3. Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients

Author

Lehalle, Daphné, primary, Bruel, Ange‐Line, additional, Vitobello, Antonio, additional, Denommé‐Pichon, Anne‐Sophie, additional, Duffourd, Yannis, additional, Assoum, Mirna, additional, Amiel, Jeanne, additional, Baujat, Geneviève, additional, Bessieres, Bettina, additional, Bigoni, Stefania, additional, Burglen, Lydie, additional, Captier, Guillaume, additional, Dard, Rodolphe, additional, Edery, Patrick, additional, Fortunato, Fernanda, additional, Geneviève, David, additional, Goldenberg, Alice, additional, Guibaud, Laurent, additional, Héron, Delphine, additional, Holder‐Espinasse, Muriel, additional, Lederer, Damien, additional, Lopez Grondona, Fermina, additional, Grotto, Sarah, additional, Marlin, Sandrine, additional, Nadeau, Gwenaël, additional, Picard, Arnaud, additional, Rossi, Massimiliano, additional, Roume, Joëlle, additional, Sanlaville, Damien, additional, Saugier‐Veber, Pascale, additional, Triau, Stéphane, additional, Valenzuela Palafoll, Maria Irene, additional, Vanlerberghe, Clémence, additional, Van Maldergem, Lionel, additional, Vezain, Myriam, additional, Vincent‐Delorme, Catherine, additional, Zivi, Einat, additional, Thevenon, Julien, additional, Vabres, Pierre, additional, Thauvin‐Robinet, Christel, additional, Callier, Patrick, additional, and Faivre, Laurence, additional

Published
2022
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4. Growth charts in Kabuki syndrome 1

Author

Ruault, Valentin, primary, Corsini, Carole, additional, Duflos, Claire, additional, Akouete, Sandrine, additional, Georgescu, Véra, additional, Abaji, Mario, additional, Alembick, Yves, additional, Alix, Eudeline, additional, Amiel, Jeanne, additional, Amouroux, Cyril, additional, Barat‐Houari, Mouna, additional, Baumann, Clarisse, additional, Bonnard, Adeline, additional, Boursier, Guilaine, additional, Boute, Odile, additional, Burglen, Lydie, additional, Busa, Tiffany, additional, Cordier, Marie‐Pierre, additional, Cormier‐Daire, Valérie, additional, Delrue, Marie‐Ange, additional, Doray, Bérénice, additional, Faivre, Laurence, additional, Fradin, Mélanie, additional, Gilbert‐Dussardier, Brigitte, additional, Giuliano, Fabienne, additional, Goldenberg, Alice, additional, Gorokhova, Svetlana, additional, Héron, Delphine, additional, Isidor, Bertrand, additional, Jacquemont, Marie‐Line, additional, Jacquette, Aurélia, additional, Jeandel, Claire, additional, Lacombe, Didier, additional, Le Merrer, Martine, additional, Sang, Kim Hanh Le Quan, additional, Lyonnet, Stanislas, additional, Manouvrier, Sylvie, additional, Michot, Caroline, additional, Moncla, Anne, additional, Moutton, Sébastien, additional, Odent, Sylvie, additional, Pelet, Anna, additional, Philip, Nicole, additional, Pinson, Lucile, additional, Reversat, Julie, additional, Roume, Joëlle, additional, Sanchez, Elodie, additional, Sanlaville, Damien, additional, Sarda, Pierre, additional, Schaefer, Elise, additional, Till, Marianne, additional, Touitou, Isabelle, additional, Toutain, Annick, additional, Willems, Marjolaine, additional, Gatinois, Vincent, additional, and Geneviève, David, additional

Published
2019
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5. Clinical and molecular cytogenetic characterization of four unrelated patients carrying 2p14 microdeletions

Author

Mathieu, Marie-Laure, primary, Demily, Caroline, additional, Chantot-Bastaraud, Sandra, additional, Afenjar, Alexandra, additional, Mignot, Cyril, additional, Andrieux, Joris, additional, Gerard, Marion, additional, Catala-Mora, Jaume, additional, Jouk, Pierre Simon, additional, Labalme, Audrey, additional, Edery, Patrick, additional, Sanlaville, Damien, additional, and Rossi, Massimiliano, additional

Published
2017
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6. A novel disorder of sex development, characterized by progressive regression of testicular function and cystic leukoencephalopathy

Author

Rossi, Massimiliano, primary, Vasiljevic, Alexandre, additional, Labalme, Audrey, additional, Dijoud, Frédérique, additional, Mallet‐Motak, Delphine, additional, Petcu, Carmen Adina, additional, Touraine, Renaud, additional, Vianey‐Saban, Christine, additional, Guibaud, Laurent, additional, Edery, Patrick, additional, Sanlaville, Damien, additional, and Morel, Yves, additional

Published
2017
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7. Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion

Author

Chatron, Nicolas, primary, Haddad, Véronique, additional, Andrieux, Joris, additional, Désir, Julie, additional, Boute, Odile, additional, Dieux, Anne, additional, Baumann, Clarisse, additional, Drunat, Séverine, additional, Gérard, Marion, additional, Bonnet, Céline, additional, Leheup, Bruno, additional, Till, Marianne, additional, Rossi, Massimiliano, additional, Flori, Elisabeth, additional, Alembik, Yves, additional, Stewart, Helen, additional, McParland, Joanna, additional, Bernardini, Laura, additional, Castelluccio, Pia, additional, Roos, Laura, additional, Tümer, Zeynep, additional, Fagan, Kerry, additional, Hackett, Anna, additional, Bain, Nicole, additional, van Haeringen, Arie, additional, Ruivenkamp, Claudia, additional, Benzacken, Brigitte, additional, Sanlaville, Damien, additional, Edery, Patrick, additional, Aboura, Azzedine, additional, and Schluth-Bolard, Caroline, additional

Published
2015
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8. Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: Six new patients

Author

Jedraszak, Guillaume, primary, Demeer, Bénédicte, additional, Mathieu-Dramard, Michèle, additional, Andrieux, Joris, additional, Receveur, Aline, additional, Weber, Astrid, additional, Maye, Una, additional, Foulds, Nicola, additional, Temple, IK, additional, Crolla, John, additional, Alex-Cordier, Marie-Pierre, additional, Sanlaville, Damien, additional, Ewans, Lisa, additional, Wilson, Meredith, additional, Armstrong, Ruth, additional, Clarkson, Amanda, additional, Copin, Henri, additional, and Morin, Gilles, additional

Published
2015
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12. Multiple congenital anomalies-intellectual disability (MCA-ID) and neuroblastoma in a patient harboring a de novo 14q23.1q23.3 deletion

Author

Lehalle, Daphné, primary, Sanlaville, Damien, additional, Guimier, Anne, additional, Plouvier, Emmanuel, additional, Leblanc, Thierry, additional, Galmiche, Louise, additional, Radford, Isabelle, additional, Romana, Serge, additional, Colleaux, Laurence, additional, de Pontual, Loïc, additional, Lyonnet, Stanislas, additional, and Amiel, Jeanne, additional

Published
2014
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13. Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation

Author

Lesca, Gaetan, primary, Moizard, Marie‐Pierre, additional, Bussy, Gerald, additional, Boggio, Dominique, additional, Hu, Hao, additional, Haas, Stefan A., additional, Ropers, Hans‐Hilger, additional, Kalscheuer, Vera M., additional, Des Portes, Vincent, additional, Labalme, Audrey, additional, Sanlaville, Damien, additional, Edery, Patrick, additional, Raynaud, Martine, additional, and Lespinasse, James, additional

Published
2013
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16. Mosaic 18q21.2 deletions including the TCF4 gene: A clinical report

Author

Rossi, Massimiliano, primary, Labalme, Audrey, additional, Cordier, Marie‐Pierre, additional, Till, Marianne, additional, Blanchard, Gaëlle, additional, Dubois, Remi, additional, Guibaud, Laurent, additional, Heissat, Sophie, additional, Javouhey, Etienne, additional, Lachaux, Alain, additional, Mure, Pierre‐Yves, additional, Ville, Dorothée, additional, Edery, Patrick, additional, and Sanlaville, Damien, additional

Published
2012
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17. Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1

Author

Lopez, Estelle, primary, Callier, Patrick, additional, Cormier-Daire, Valérie, additional, Lacombe, Didier, additional, Moncla, Anne, additional, Bottani, Armand, additional, Lambert, Sandy, additional, Goldenberg, Alice, additional, Doray, Bérénice, additional, Odent, Sylvie, additional, Sanlaville, Damien, additional, Gueneau, Lucie, additional, Duplomb, Laurence, additional, Huet, Frédéric, additional, Aral, Bernard, additional, Thauvin-Robinet, Christel, additional, and Faivre, Laurence, additional

Published
2012
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20. Array-CGH study of partial trisomy 9p without mental retardation

Author

Abdallah Bouhjar, Inesse Ben, primary, Hannachi, Hanane, additional, Mougou Zerelli, Soumaya, additional, Labalme, Audrey, additional, Gmidène, Abir, additional, Soyah, Najla, additional, Missaoui, Sonia, additional, Sanlaville, Damien, additional, Elghezal, Hatem, additional, and Saad, Ali, additional

Published
2011
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23. Beckwith-Wiedemann-like macroglossia and 18q23 haploinsufficiency

Author

Lirussi, Frédéric, primary, Jonard, Laurence, additional, Gaston, Véronique, additional, Sanlaville, Damien, additional, Kooy, R. Frank, additional, Winnepenninckx, Birgitta, additional, Maher, Eamonn R., additional, FitzPatrick, David R., additional, Gicquel, Christine, additional, Portnoï, Marie-France, additional, Couderc, Rémy, additional, Vazquez, Marie-Paule, additional, and Bahuau, Michel, additional

Published
2007
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24. Functional disomy of Xp including duplication ofDAX1gene with sex reversal due to t(X;Y)(p21.2;p11.3)

Author

Sanlaville, Damien, primary, Vialard, François, additional, Thépot, François, additional, Vue-Droy, Luce, additional, Ardalan, Azarnouche, additional, Nizard, Patrice, additional, Corré, Alain, additional, Devauchelle, Bernard, additional, Martin-Denavit, Tanguy, additional, Nouchy, Marc, additional, Malan, Valérie, additional, Taillemite, Jean-Louis, additional, and Portnoï, Marie-France, additional

Published
2004
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25. Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions.

Author

Bensaid S, Bendahmane M, Loddo S, Poke G, Januel L, Nicolle R, Malan V, Chatron N, Ottombrino S, Dentici ML, Novelli A, Digilio MC, and Sanlaville D

Subjects
Child, Child, Preschool, Female, Humans, Male, Abnormalities, Multiple genetics, Abnormalities, Multiple pathology, DNA Copy Number Variations genetics, Phenotype, Adolescent, Chromosome Deletion, Chromosomes, Human, Pair 20 genetics
Abstract

Deletions of the long arm of chromosome 20 (20q) are rare, with only 16 reported patients displaying a proximal interstitial 20q deletion. A 1.62 Mb minimal critical region at 20q11.2, encompassing three genes GDF5, EPB41L1, and SAMHD1, is proposed to be responsible for this syndrome. The leading clinical features include growth retardation, intractable feeding difficulties with gastroesophageal reflux, hypotonia and psychomotor developmental delay. Common facial dysmorphisms including triangular face, hypertelorism, and hypoplastic alae nasi were additionally reported. Here, we present the clinical and molecular findings of five new patients with proximal interstitial 20q deletions. We analyzed the phenotype and molecular data of all previously reported patients with 20q11.2q12 microdeletions, along with our five new cases. Copy number variation analysis of patients in our cohort has enabled us to identify the second critical region in the 20q11.2q12 region and redefine the first region that is initially identified. The first critical region spans 359 kb at 20q11.2, containing six MIM genes, including two disease-causing genes, GDF5 and CEP250. The second critical region spans 706 kb at 20q12, encompassing four MIM genes, including two disease-causing genes, MAFB and TOP1. We propose GDF5 to be the primary candidate gene generating the phenotype of patients with 20q11.2 deletions. Moreover, we hypothesize TOP1 as a potential candidate gene for the second critical region at 20q12. Of note, we cannot exclude the possibility of a synergistic role of other genes involved in the deletion, including a contiguous gene deletion syndrome or position effect affecting both critical regions. Further studies focusing on patients with proximal 20q deletions are required to support our hypothesis., (© 2024 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.)

Published
2024
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26. Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.

Author

Jedraszak G, Jobic F, Receveur A, Bilan F, Gilbert-Dussardier B, Tiffany B, Missirian C, Willems M, Odent S, Lucas J, Dubourg C, Schaefer E, Scheidecker S, Lespinasse J, Goldenberg A, Guerrot AM, Joly-Helas G, Chambon P, Le Caignec C, David A, Coutton C, Satre V, Vieville G, Amblard F, Harbuz R, Sanlaville D, Till M, Vincent-Delorme C, Colson C, Andrieux J, Naudion S, Toutain J, Rooryck C, de Fréminville B, Prieur F, Daire VC, Amram D, Kleinfinger P, Raabe-Meyer G, Courage C, Lemke J, Stefanou EG, Loretta T, Emmanouil M, Tzeli SK, Sodowska H, Anderson J, Nandini A, Copin H, Garçon L, Liehr T, and Morin G

Subjects
Humans, Retrospective Studies, In Situ Hybridization, Fluorescence, Chromosomes, Human, Pair 22 genetics, Heart Defects, Congenital genetics, Aneuploidy, Eye Abnormalities, Chromosome Disorders
Abstract

Cat Eye Syndrome (CES) is a rare genetic disease caused by the presence of a small supernumerary marker chromosome derived from chromosome 22, which results in a partial tetrasomy of 22p-22q11.21. CES is classically defined by association of iris coloboma, anal atresia, and preauricular tags or pits, with high clinical and genetic heterogeneity. We conducted an international retrospective study of patients carrying genomic gain in the 22q11.21 chromosomal region upstream from LCR22-A identified using FISH, MLPA, and/or array-CGH. We report a cohort of 43 CES cases. We highlight that the clinical triad represents no more than 50% of cases. However, only 16% of CES patients presented with the three signs of the triad and 9% not present any of these three signs. We also highlight the importance of other impairments: cardiac anomalies are one of the major signs of CES (51% of cases), and high frequency of intellectual disability (47%). Ocular motility defects (45%), abdominal malformations (44%), ophthalmologic malformations (35%), and genitourinary tract defects (32%) are other frequent clinical features. We observed that sSMC is the most frequent chromosomal anomaly (91%) and we highlight the high prevalence of mosaic cases (40%) and the unexpectedly high prevalence of parental transmission of sSMC (23%). Most often, the transmitting parent has mild or absent features and carries the mosaic marker at a very low rate (<10%). These data allow us to better delineate the clinical phenotype associated with CES, which must be taken into account in the cytogenetic testing for this syndrome. These findings draw attention to the need for genetic counseling and the risk of recurrence., (© 2023 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.)

Published
2024
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27. 1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.

Author

Jacquin C, Landais E, Poirsier C, Afenjar A, Akhavi A, Bednarek N, Bénech C, Bonnard A, Bosquet D, Burglen L, Callier P, Chantot-Bastaraud S, Coubes C, Coutton C, Delobel B, Descharmes M, Dupont JM, Gatinois V, Gruchy N, Guterman S, Heddar A, Herissant L, Heron D, Isidor B, Jaeger P, Jouret G, Keren B, Kuentz P, Le Caignec C, Levy J, Lopez N, Manssens Z, Martin-Coignard D, Marey I, Mignot C, Missirian C, Pebrel-Richard C, Pinson L, Puechberty J, Redon S, Sanlaville D, Spodenkiewicz M, Tabet AC, Verloes A, Vieville G, Yardin C, Vialard F, and Doco-Fenzy M

Subjects
Humans, Chromosomes, Human, Pair 1, Muscle Hypotonia, Chromosome Deletion, Phenotype, Down Syndrome, DiGeorge Syndrome, Intellectual Disability, Microcephaly, Epilepsy
Abstract

Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion of part of the short arm of chromosome 1. The 1p36DS is characterized by typical craniofacial features, developmental delay/intellectual disability, hypotonia, epilepsy, cardiomyopathy/congenital heart defect, brain abnormalities, hearing loss, eyes/vision problem, and short stature. The aim of our study was to (1) evaluate the incidence of the 1p36DS in the French population compared to 22q11.2 deletion syndrome and trisomy 21; (2) review the postnatal phenotype related to microarray data, compared to previously publish prenatal data. Thanks to a collaboration with the ACLF (Association des Cytogénéticiens de Langue Française), we have collected data of 86 patients constituting, to the best of our knowledge, the second-largest cohort of 1p36DS patients in the literature. We estimated an average of at least 10 cases per year in France. 1p36DS seems to be much less frequent than 22q11.2 deletion syndrome and trisomy 21. Patients presented mainly dysmorphism, microcephaly, developmental delay/intellectual disability, hypotonia, epilepsy, brain malformations, behavioral disorders, cardiomyopathy, or cardiovascular malformations and, pre and/or postnatal growth retardation. Cardiac abnormalities, brain malformations, and epilepsy were more frequent in distal deletions, whereas microcephaly was more common in proximal deletions. Mapping and genotype-phenotype correlation allowed us to identify four critical regions responsible for intellectual disability. This study highlights some phenotypic variability, according to the deletion position, and helps to refine the phenotype of 1p36DS, allowing improved management and follow-up of patients., (© 2022 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.)

Published
2023
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28. Growth charts in Kabuki syndrome 1.

Author

Ruault V, Corsini C, Duflos C, Akouete S, Georgescu V, Abaji M, Alembick Y, Alix E, Amiel J, Amouroux C, Barat-Houari M, Baumann C, Bonnard A, Boursier G, Boute O, Burglen L, Busa T, Cordier MP, Cormier-Daire V, Delrue MA, Doray B, Faivre L, Fradin M, Gilbert-Dussardier B, Giuliano F, Goldenberg A, Gorokhova S, Héron D, Isidor B, Jacquemont ML, Jacquette A, Jeandel C, Lacombe D, Le Merrer M, Sang KHLQ, Lyonnet S, Manouvrier S, Michot C, Moncla A, Moutton S, Odent S, Pelet A, Philip N, Pinson L, Reversat J, Roume J, Sanchez E, Sanlaville D, Sarda P, Schaefer E, Till M, Touitou I, Toutain A, Willems M, Gatinois V, and Geneviève D

Subjects
Abnormalities, Multiple diagnosis, Abnormalities, Multiple physiopathology, Adolescent, Body Height, Body Mass Index, Body Weight, Child, Child, Preschool, Face physiopathology, Female, Growth Charts, Hematologic Diseases diagnosis, Histone Demethylases genetics, Humans, Male, Mutation genetics, Vestibular Diseases diagnosis, Abnormalities, Multiple genetics, DNA-Binding Proteins genetics, Face abnormalities, Hematologic Diseases genetics, Hematologic Diseases physiopathology, Neoplasm Proteins genetics, Vestibular Diseases genetics, Vestibular Diseases physiopathology
Abstract

Kabuki syndrome (KS, KS1: OMIM 147920 and KS2: OMIM 300867) is caused by pathogenic variations in KMT2D or KDM6A. KS is characterized by multiple congenital anomalies and neurodevelopmental disorders. Growth restriction is frequently reported. Here we aimed to create specific growth charts for individuals with KS1, identify parameters used for size prognosis and investigate the impact of growth hormone therapy on adult height. Growth parameters and parental size were obtained for 95 KS1 individuals (41 females). Growth charts for height, weight, body mass index (BMI) and occipitofrontal circumference were generated in standard deviation values for the first time in KS1. Statural growth of KS1 individuals was compared to parental target size. According to the charts, height, weight, BMI, and occipitofrontal circumference were lower for KS1 individuals than the normative French population. For males and females, the mean growth of KS1 individuals was -2 and -1.8 SD of their parental target size, respectively. Growth hormone therapy did not increase size beyond the predicted size. This study, from the largest cohort available, proposes growth charts for widespread use in the management of KS1, especially for size prognosis and screening of other diseases responsible for growth impairment beyond a calculated specific target size., (© 2019 Wiley Periodicals, Inc.)

Published
2020
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29. A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion.

Author

Pons L, Cordier MP, Labalme A, Till M, Louvrier C, Schluth-Bolard C, Lesca G, Edery P, and Sanlaville D

Subjects
Adult, Child, Child, Preschool, Chromosomes, Human, Pair 3 genetics, Comparative Genomic Hybridization, Female, Humans, Infant, Infant, Newborn, Pregnancy, Syndrome, Chromosome Deletion, Facies, Intellectual Disability genetics, Nuclear Proteins genetics, Receptors, Cytoplasmic and Nuclear genetics, Repressor Proteins genetics
Abstract

We report here on an 8-year-old girl and her mother, both displaying similar facial dysmorphism, speech delay, and mild to moderate intellectual disability. Array-CGH studies revealed the same interstitial 3q26.32 microdeletion encompassing a single coding gene, TBL1XR1, in both patients. The TBL1XR1 protein, which has four WD40 repeats, has been shown to bind the nuclear corepressor (NCOR) and histone deacetylase-3 complexes (HDAC3). TBL1XR1 mutations have recently been implicated in autism spectrum disorders, but our patients displayed no autistic behavior. Our findings suggest that TBL1XR1 haploinsufficiency can cause intellectual disability with a recognizable dysmorphism, without necessarily causing autistic behavior., (© 2014 Wiley Periodicals, Inc.)

Published
2015
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30. Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl.

Author

Boutry-Kryza N, Ville D, Labalme A, Calender A, Dupont JM, Touraine R, Edery P, des Portes V, Sanlaville D, and Lesca G

Subjects
Child, Preschool, Chromosome Breakpoints, Comparative Genomic Hybridization, DNA Mutational Analysis, Exons, Female, Gene Duplication, Genetic Association Studies, Humans, Infant, Infant, Newborn, Rett Syndrome diagnosis, Rett Syndrome genetics, Spasms, Infantile diagnosis, Spasms, Infantile genetics, X Chromosome Inactivation, Alleles, Gene Deletion, Mosaicism, Mutation, Protein Serine-Threonine Kinases genetics
Abstract

Mutations of the CDKL5 gene cause early epileptic encephalopathy. Patients manifest refractory epilepsy, beginning before the age of 3 months, which is associated with severe psychomotor delay and features that overlap with Rett syndrome. We report here a patient with mosaicism for CDKL5 exonic deletion, with the presence of two mutant alleles. The affected 4-year-old girl presented with infantile spasms, beginning at the age of 9 months, but subsequent progression of the disease was consistent with the classical CDKL5-related phenotype. A deletion of exons 17 and 18 was suspected on the basis of Multiplex Ligation Probe Amplification analysis, but unexpected results for cDNA analysis, which showed the presence of an abnormal transcript with the deletion of exon 18 only, led us to suspect that two distinct events might have occurred. We used custom array-CGH to determine the size and breakpoints of these deletions. Exon 18 was deleted from one of the abnormal alleles, and exon 17 was deleted from the other. A Fork Stalling and Template Switching (FoSTeS) mechanism was proposed to explain the two events, given the presence of regions of microhomology at the breakpoints. We propose here an original involvement of the FoSTeS mechanism to explain the co-occurrence of these two events in the CDKL5 gene in a single patient. This patient highlights the difficulties involved in the detection of such abnormalities, particularly when they occur in a mosaic state and involve two distinct mutational events in a single gene., (© 2014 Wiley Periodicals, Inc.)

Published
2014
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31. Interstitial 12p13.1 deletion involving GRIN2B in three patients with intellectual disability.

Author

Dimassi S, Andrieux J, Labalme A, Lesca G, Cordier MP, Boute O, Neut D, Edery P, Sanlaville D, and Schluth-Bolard C

Subjects
Child, Child, Preschool, Comparative Genomic Hybridization, Exons, Facies, Female, Humans, Intellectual Disability diagnosis, Male, Phenotype, Young Adult, Chromosome Deletion, Chromosomes, Human, Pair 12, Intellectual Disability genetics, Receptors, N-Methyl-D-Aspartate genetics
Abstract

We report on three patients presenting moderate intellectual disability, delayed language acquisition, and mild facial dysmorphia. Array-CGH studies revealed overlapping interstitial 12p13.1 microdeletions encompassing all or part of GRIN2B. GRIN2B encodes the NR2B subunit of the N-methyl-D-aspartate (NMDA) receptor. This receptor is a heteromeric glutamate-activated ion channel, present throughout the central nervous system. It plays a critical role in corticogenesis, neuronal migration, and synaptogenesis during brain development. GRIN2B alterations, including mutation and gene disruption by apparently balanced chromosomal rearrangements, have been described in patients with intellectual disability and autism spectrum disorder. We report here on the first cases of GRIN2B deletion, enlarging the spectrum of GRIN2B abnormalities. Our findings confirm the involvement of this gene in neurodevelopmental disorders. © 2013 Wiley Periodicals, Inc., (Copyright © 2013 Wiley Periodicals, Inc.)

Published
2013
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32. An 800  kb deletion at 17q23.2 including the MED13 (THRAP1) gene, revealed by aCGH in a patient with a SMC 17p.

Author

Boutry-Kryza N, Labalme A, Till M, Schluth-Bolard C, Langue J, Turleau C, Edery P, and Sanlaville D

Subjects
Body Dysmorphic Disorders diagnosis, Body Dysmorphic Disorders genetics, Body Dysmorphic Disorders pathology, Child, Chromosome Breakpoints, Chromosome Disorders diagnosis, Comparative Genomic Hybridization, Haploinsufficiency genetics, Hearing Loss diagnosis, Hearing Loss genetics, Hearing Loss pathology, Humans, Intellectual Disability diagnosis, Intellectual Disability genetics, Intellectual Disability pathology, Chromosome Deletion, Chromosome Disorders genetics, Chromosome Disorders pathology, Chromosomes, Human, Pair 17 genetics, Mediator Complex genetics
Abstract

We report on clinical and cytogenetic studies in a 7-year-old child with moderate intellectual disability, short stature, mild dysmorphism, and hearing loss. R-chromosome banding showed a de novo autosomal marker originating from the 17p chromosome segment in all cells analyzed. Array comparative genome hybridization (aCGH) was used to determine the gene content and proximal and distal breakpoints of the small supernumerary marker chromosome (SMC). These breakpoints mapped to the centromere of chromosome 17 and the 17p11.2 region, respectively. Unexpectedly, aCGH analysis also revealed a de novo deletion of 800 kb encompassing six genes in the 17q23.2 region, including MED13 (also known as THRAP1). We compared our patient with other reported cases of SMC(17), to determine the respective contributions of the duplication and the deletion to the phenotype. We cannot entirely exclude a minor role for the SMC(17), but we suggest that MED13 haploinsufficiency was responsible for the phenotype of the patient particularly the cataract, hearing loss and semicircular canal dysplasia. Moreover, this report highlights the usefulness of aCGH for the specification of gene content in cases of abnormality, facilitating the establishment of accurate phenotype-genotype correlations and the detection of other, complex rearrangements., (Copyright © 2011 Wiley Periodicals, Inc.)

Published
2012
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33. Array-CGH study of partial trisomy 9p without mental retardation.

Author

Bouhjar IB, Hannachi H, Zerelli SM, Labalme A, Gmidène A, Soyah N, Missaoui S, Sanlaville D, Elghezal H, and Saad A

Subjects
Child, Chromosomes, Human, Pair 22 genetics, Chromosomes, Human, Pair 9 genetics, Humans, Intellectual Disability genetics, Male, Phenotype, Trisomy diagnosis, Comparative Genomic Hybridization, Trisomy genetics
Abstract

Partial trisomy 9p is one of the most common detected autosomal structural anomalies, so the phenotype-genotype correlation of this rearrangement has been well described. Despite variation in size of the 9p duplications, trisomy 9p syndrome is characterized by typical dysmorphic features and a variable but constant psychomotor and mental retardation. Previously reported phenotype genotype correlation studies proposed that the critical region for phenotype is located in 9p22. We report here on a new patient with partial trisomy 9p13.3→9pter in an 8-year-old boy with typical trisomy 9p dysmorphic features but a normal mental development. Cytogenetics investigations showed that our patient karyotype was 47,XY,+ der(22)t(9;22)(p13.q11) inherited by a 3:1 disjunction of a maternal reciprocal translocation t(9;22)(p13.q11). FISH and array CGH analysis were used to better characterize duplicated chromosomal regions and showed a large duplication of chromosome 9p13.3→9pter associated to microduplication in 22q11.1. The size of the duplications in chromosomes 9p and 22q were estimated about 33.9 and 2.67 Mb, respectively. The comparison between this case and those reported in the literature allows us to support that all syndromes show variability and that not all partial trisomies 9p are associated with intellectual disability., (Copyright © 2011 Wiley-Liss, Inc.)

Published
2011
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34. Functional disomy of Xp including duplication of DAX1 gene with sex reversal due to t(X;Y)(p21.2;p11.3).

Author

Sanlaville D, Vialard F, Thépot F, Vue-Droy L, Ardalan A, Nizard P, Corré A, Devauchelle B, Martin-Denavit T, Nouchy M, Malan V, Taillemite JL, and Portnoï MF

Subjects
Abnormalities, Multiple genetics, Child, Preschool, DAX-1 Orphan Nuclear Receptor, Female, Humans, Intellectual Disability genetics, Karyotyping, Syndrome, Chromosomes, Human, X, Chromosomes, Human, Y, DNA-Binding Proteins genetics, Disorders of Sex Development, Genes, Duplicate genetics, Receptors, Retinoic Acid genetics, Repressor Proteins genetics, Sex Chromosome Aberrations, Translocation, Genetic genetics
Abstract

Translocations involving the short arms of the X and Y in human chromosomes are uncommon. One of the best-known consequences of such exchanges is sex reversal in 46,XX males and some 46,XY females, due to exchange in the paternal germline of terminal portions of Xp and Yp, including the SRY gene. Translocations of Xp segments to the Y chromosome result in functional disomy of the X chromosome with an abnormal phenotype and sex reversal if the DSS locus, mapped in Xp21, is present. We describe a 7-month-old girl with severe psychomotor retardation, minor anomalies, malformations, and female external genitalia. Cytogenetic analysis showed a 46,X,mar karyotype. The marker was identified as a der(Y)t(Xp;Yp) by fluorescence in situ hybridisation analysis. Further studies with specific locus probes of X and Y chromosomes made it possible to clarify the break points and demonstrated the presence of two copies of the DAX1 gene, one on the normal X chromosome and one on the der(Y). The karyotype of the child was: 46,X,der(Y)t(X;Y)(p21.2;p11.3). The syndrome resulted from functional disomy Xp21.2-pter, with sex reversal related to the presence of two active copies of the DAX1 gene located in Xp21. Few cases of Xp disomy with sex reversal have been reported, primarily related to Xp duplications with 46,XY karyotype, and less often to Xp;Yq translocations. To our knowledge, our patient with sex reversal and a t(Xp;Yp) is the second reported case., (Copyright 2004 Wiley-Liss, Inc.)

Published
2004
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