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1. Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

Author

Husson, Thomas, Lecoquierre, François, Nicolas, Gaël, Richard, Anne-Claire, Afenjar, Alexandra, Audebert-Bellanger, Séverine, Badens, Catherine, Bilan, Frédéric, Bizaoui, Varoona, Boland, Anne, Bonnet-Dupeyron, Marie-Noëlle, Brischoux-Boucher, Elise, Bonnet, Céline, Bournez, Marie, Boute, Odile, Brunelle, Perrine, Caumes, Roseline, Charles, Perrine, Chassaing, Nicolas, Chatron, Nicolas, Cogné, Benjamin, Colin, Estelle, Cormier-Daire, Valérie, Dard, Rodolphe, Dauriat, Benjamin, Delanne, Julian, Deleuze, Jean-François, Demurger, Florence, Denommé-Pichon, Anne-Sophie, Depienne, Christel, Dieux, Anne, Dubourg, Christèle, Edery, Patrick, El Chehadeh, Salima, Faivre, Laurence, Fergelot, Patricia, Fradin, Mélanie, Garde, Aurore, Geneviève, David, Gilbert-Dussardier, Brigitte, Goizet, Cyril, Goldenberg, Alice, Gouy, Evan, Guerrot, Anne-Marie, Guimier, Anne, Harzalla, Inès, Héron, Delphine, Isidor, Bertrand, Lacombe, Didier, Le Guillou Horn, Xavier, Keren, Boris, Kuechler, Alma, Lacaze, Elodie, Lavillaureix, Alinoë, Lehalle, Daphné, Lesca, Gaëtan, Lespinasse, James, Levy, Jonathan, Lyonnet, Stanislas, Morel, Godeliève, Jean-Marçais, Nolwenn, Marlin, Sandrine, Marsili, Luisa, Mignot, Cyril, Nambot, Sophie, Nizon, Mathilde, Olaso, Robert, Pasquier, Laurent, Perrin, Laurine, Petit, Florence, Pingault, Veronique, Piton, Amélie, Prieur, Fabienne, Putoux, Audrey, Planes, Marc, Odent, Sylvie, Quélin, Chloé, Quemener-Redon, Sylvia, Rama, Mélanie, Rio, Marlène, Rossi, Massimiliano, Schaefer, Elise, Rondeau, Sophie, Saugier-Veber, Pascale, Smol, Thomas, Sigaudy, Sabine, Touraine, Renaud, Mau-Them, Frederic Tran, Trimouille, Aurélien, Van Gils, Julien, Vanlerberghe, Clémence, Vantalon, Valérie, Vera, Gabriella, Vincent, Marie, Ziegler, Alban, Guillin, Olivier, Campion, Dominique, and Charbonnier, Camille

Published
2024
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2. LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder

Author

Chettle, James, Louie, Raymond J., Larner, Olivia, Best, Robert, Chen, Kevin, Morris, Josephine, Dedeic, Zinaida, Childers, Anna, Rogers, R. Curtis, DuPont, Barbara R., Skinner, Cindy, Küry, Sébastien, Uguen, Kevin, Planes, Marc, Monteil, Danielle, Li, Megan, Eliyahu, Aviva, Greenbaum, Lior, Mor, Nofar, Besnard, Thomas, Isidor, Bertrand, Cogné, Benjamin, Blesson, Alyssa, Comi, Anne, Wentzensen, Ingrid M., Vuocolo, Blake, Lalani, Seema R., Sierra, Roberta, Berry, Lori, Carter, Kent, Sanders, Stephan J., and Blagden, Sarah P.

Published
2024
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3. An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP

Author

Mah-Som, Annelise Y., Daw, Jil, Huynh, Diana, Wu, Mengcheng, Creekmore, Benjamin C., Burns, William, Skinner, Steven A., Holla, Øystein L., Smeland, Marie F., Planes, Marc, Uguen, Kevin, Redon, Sylvia, Bierhals, Tatjana, Scholz, Tasja, Denecke, Jonas, Mensah, Martin A., Sczakiel, Henrike L., Tichy, Heidelis, Verheyen, Sarah, Blatterer, Jasmin, Schreiner, Elisabeth, Thies, Jenny, Lam, Christina, Spaeth, Christine G., Pena, Loren, Ramsey, Keri, Narayanan, Vinodh, Seaver, Laurie H., Rodriguez, Diana, Afenjar, Alexandra, Burglen, Lydie, Lee, Edward B., Chou, Tsui-Fen, Weihl, Conrad C., and Shinawi, Marwan S.

Published
2023
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5. The phenotypic and genotypic spectrum of individuals with mono‐ or biallelic ANK3 variants.

Author

Furia, Francesca, Levy, Amanda M., Theunis, Miel, Bamshad, Michael J., Bartos, Meghan N., Bijlsma, Emilia K., Brancati, Francesco, Cejudo, Lucile, Chong, Jessica X., De Luca, Chiara, Dean, Sarah Joy, Egense, Alena, Goel, Himanshu, Guenzel, Adam J., Hüffmeier, Ulrike, Legius, Eric, Mancini, Grazia M. S., Marcos‐Alcalde, Iñigo, Niclass, Tanguy, and Planes, Marc

Subjects
SLEEP disorders, SLEEP interruptions, ALTERNATIVE RNA splicing, ATTENTION-deficit hyperactivity disorder, AUTISM spectrum disorders
Abstract

ANK3 encodes ankyrin‐G, a protein involved in neuronal development and signaling. Alternative splicing gives rise to three ankyrin‐G isoforms comprising different domains with distinct expression patterns. Mono‐ or biallelic ANK3 variants are associated with non‐specific syndromic intellectual disability in 14 individuals (seven with monoallelic and seven with biallelic variants). In this study, we describe the clinical features of 13 additional individuals and review the data on a total of 27 individuals (16 individuals with monoallelic and 11 with biallelic ANK3 variants) and demonstrate that the phenotype for biallelic variants is more severe. The phenotypic features include language delay (92%), autism spectrum disorder (76%), intellectual disability (78%), hypotonia (65%), motor delay (68%), attention deficit disorder (ADD) or attention deficit hyperactivity disorder (ADHD) (57%), sleep disturbances (50%), aggressivity/self‐injury (37.5%), and epilepsy (35%). A notable phenotypic difference was presence of ataxia in three individuals with biallelic variants, but in none of the individuals with monoallelic variants. While the majority of the monoallelic variants are predicted to result in a truncated protein, biallelic variants are almost exclusively missense. Moreover, mono‐ and biallelic variants appear to be localized differently across the three different ankyrin‐G isoforms, suggesting isoform‐specific pathological mechanisms. [ABSTRACT FROM AUTHOR]

Published
2024
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6. Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

Author

Husson, Thomas, primary, Lecoquierre, François, additional, Nicolas, Gaël, additional, Richard, Anne-Claire, additional, Afenjar, Alexandra, additional, Audebert-Bellanger, Séverine, additional, Badens, Catherine, additional, Bilan, Frédéric, additional, Bizaoui, Varoona, additional, Boland, Anne, additional, Bonnet-Dupeyron, Marie-Noëlle, additional, Brischoux-Boucher, Elise, additional, Bonnet, Céline, additional, Bournez, Marie, additional, Boute, Odile, additional, Brunelle, Perrine, additional, Caumes, Roseline, additional, Charles, Perrine, additional, Chassaing, Nicolas, additional, Chatron, Nicolas, additional, Cogné, Benjamin, additional, Colin, Estelle, additional, Cormier-Daire, Valérie, additional, Dard, Rodolphe, additional, Dauriat, Benjamin, additional, Delanne, Julian, additional, Deleuze, Jean-François, additional, Demurger, Florence, additional, Denommé-Pichon, Anne-Sophie, additional, Depienne, Christel, additional, Dieux, Anne, additional, Dubourg, Christèle, additional, Edery, Patrick, additional, El Chehadeh, Salima, additional, Faivre, Laurence, additional, Fergelot, Patricia, additional, Fradin, Mélanie, additional, Garde, Aurore, additional, Geneviève, David, additional, Gilbert-Dussardier, Brigitte, additional, Goizet, Cyril, additional, Goldenberg, Alice, additional, Gouy, Evan, additional, Guerrot, Anne-Marie, additional, Guimier, Anne, additional, Harzalla, Inès, additional, Héron, Delphine, additional, Isidor, Bertrand, additional, Lacombe, Didier, additional, Le Guillou Horn, Xavier, additional, Keren, Boris, additional, Kuechler, Alma, additional, Lacaze, Elodie, additional, Lavillaureix, Alinoë, additional, Lehalle, Daphné, additional, Lesca, Gaëtan, additional, Lespinasse, James, additional, Levy, Jonathan, additional, Lyonnet, Stanislas, additional, Morel, Godeliève, additional, Jean-Marçais, Nolwenn, additional, Marlin, Sandrine, additional, Marsili, Luisa, additional, Mignot, Cyril, additional, Nambot, Sophie, additional, Nizon, Mathilde, additional, Olaso, Robert, additional, Pasquier, Laurent, additional, Perrin, Laurine, additional, Petit, Florence, additional, Pingault, Veronique, additional, Piton, Amélie, additional, Prieur, Fabienne, additional, Putoux, Audrey, additional, Planes, Marc, additional, Odent, Sylvie, additional, Quélin, Chloé, additional, Quemener-Redon, Sylvia, additional, Rama, Mélanie, additional, Rio, Marlène, additional, Rossi, Massimiliano, additional, Schaefer, Elise, additional, Rondeau, Sophie, additional, Saugier-Veber, Pascale, additional, Smol, Thomas, additional, Sigaudy, Sabine, additional, Touraine, Renaud, additional, Mau-Them, Frederic Tran, additional, Trimouille, Aurélien, additional, Van Gils, Julien, additional, Vanlerberghe, Clémence, additional, Vantalon, Valérie, additional, Vera, Gabriella, additional, Vincent, Marie, additional, Ziegler, Alban, additional, Guillin, Olivier, additional, Campion, Dominique, additional, and Charbonnier, Camille, additional

Published
2023
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7. Unexpected Inheritance Patterns in a Large Cohort of Patients with a Suspected Ciliopathy

Author

Gouronc, Aurélie, primary, Javey, Elodie, additional, Leuvrey, Anne-Sophie, additional, Nourisson, Elsa, additional, Friedmann, Sylvie, additional, Reichert, Valérie, additional, Derive, Nicolas, additional, Francannet, Christine, additional, Keren, Boris, additional, Lévy, Jonathan, additional, Planes, Marc, additional, Ruaud, Lyse, additional, Amiel, Jeanne, additional, Dollfus, Hélène, additional, Scheidecker, Sophie, additional, and Muller, Jean, additional

Published
2023
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8. Jansen‐de Vries syndrome: Expansion of thePPM1Dclinical and phenotypic spectrum in 34 families

Author

Wojcik, Monica H., primary, Srivastava, Siddharth, additional, Agrawal, Pankaj B., additional, Balci, Tugce B., additional, Callewaert, Bert, additional, Calvo, Pier Luigi, additional, Carli, Diana, additional, Caudle, Michelle, additional, Colaiacovo, Samantha, additional, Cross, Laura, additional, Demetriou, Kalliope, additional, Drazba, Katy, additional, Dutra‐Clarke, Marina, additional, Edwards, Matthew, additional, Genetti, Casie A., additional, Grange, Dorothy K., additional, Hickey, Scott E., additional, Isidor, Bertrand, additional, Küry, Sébastien, additional, Lachman, Herbert M., additional, Lavillaureix, Alinoe, additional, Lyons, Michael J., additional, Marcelis, Carlo, additional, Marco, Elysa J., additional, Martinez‐Agosto, Julian A., additional, Nowak, Catherine, additional, Pizzol, Antonio, additional, Planes, Marc, additional, Prijoles, Eloise J., additional, Riberi, Evelise, additional, Rush, Eric T., additional, Russell, Bianca E., additional, Sachdev, Rani, additional, Schmalz, Betsy, additional, Shears, Deborah, additional, Stevenson, David A., additional, Wilson, Kate, additional, Jansen, Sandra, additional, de Vries, Bert B. A., additional, and Curry, Cynthia J., additional

Published
2023
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10. A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature

Author

Couloigner, Loïc, primary, Planes, Marc, additional, Ka, Chandran, additional, Audebert‐Bellanger, Séverine, additional, Redon, Sylvia, additional, Benech, Caroline, additional, Rouault, Karen, additional, Küry, Sebastien, additional, Peudenier, Sylviane, additional, Autret, Sandrine, additional, Gourlaouen, Isabelle, additional, Bonneau, Dominique, additional, Odent, Sylvie, additional, Bézieau, Stéphane, additional, Gilbert‐Dussardier, Brigitte, additional, Toutain, Annick, additional, Boland, Anne, additional, Deleuze, Jean‐François, additional, Le Marechal, Cédric, additional, Le Gac, Gérald, additional, Ferec, Claude, additional, and Uguen, Kevin, additional

Published
2022
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12. A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature.

Author

Couloigner, Loïc, Planes, Marc, Ka, Chandran, Audebert‐Bellanger, Séverine, Redon, Sylvia, Benech, Caroline, Rouault, Karen, Küry, Sebastien, Peudenier, Sylviane, Autret, Sandrine, Gourlaouen, Isabelle, Bonneau, Dominique, Odent, Sylvie, Bézieau, Stéphane, Gilbert‐Dussardier, Brigitte, Toutain, Annick, Boland, Anne, Deleuze, Jean‐François, Le Marechal, Cédric, and Le Gac, Gérald

Subjects
*LITERATURE reviews, *MEDICAL genetics, *SYNDROMES, *STOP codons
Published
2023
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13. Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study

Author

Bordet, Céline, primary, Brice, Sandrine, additional, Maupain, Carole, additional, Gandjbakhch, Estelle, additional, Isidor, Bertrand, additional, Palmyre, Aurélien, additional, Moerman, Alexandre, additional, Toutain, Annick, additional, Akloul, Linda, additional, Brehin, Anne-Claire, additional, Sawka, Caroline, additional, Rooryck, Caroline, additional, Schaefer, Elise, additional, Nguyen, Karine, additional, Dupin Deguine, Delphine, additional, Rouzier, Cécile, additional, Billy, Gipsy, additional, Séné, Krystelle, additional, Denjoy, Isabelle, additional, Leheup, Bruno, additional, Planes, Marc, additional, Mazzella, Jean-Michael, additional, Staraci, Stéphanie, additional, Hebert, Mélanie, additional, Le Boette, Elsa, additional, Michon, Claire-Cécile, additional, Babonneau, Marie-Lise, additional, Curjol, Angélique, additional, Bekhechi, Amine, additional, Mansouri, Rafik, additional, Raji, Ibticem, additional, Pruny, Jean-François, additional, Fressart, Véronique, additional, Ader, Flavie, additional, Richard, Pascale, additional, Tezenas du Montcel, Sophie, additional, Gargiulo, Marcela, additional, and Charron, Philippe, additional

Published
2020
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15. Agents antimicrobians en el sistema sòl-aigua: estudis de sorció

Author

Teixidó i Planes, Marc, Granados i Juan, Mercè, Beltrán Abadia, José Luis, and Universitat de Barcelona. Departament de Química Analítica

Subjects
Agents antiinfecciosos, Veterinary medicine, Agentes antiinfecciosos, Microbiologia, Medi ambient, Environment, Microbiology, Carboncillo, Suelos, Sorción, Medicaments antibacterians, Veterinària, Contaminació de l'aigua, Química analítica, Sorció, Ciències Experimentals i Matemàtiques, Biochar, Antibacterial agents, Water pollution, Sòls, Medio ambiente, Anti-infective agents, Soils, Sorption, Carbonet, Analytical chemistry
Abstract

[cat]La presència d’antimicrobians, així com dels seus metabòlits i altres productes de degradació, en el medi ambient ha despertat una forta preocupació durant els últims anys. Com a resultat de l’elevada efectivitat i baix cost d’aquests fàrmacs, el seu ús s’ha estès en medicina humana i veterinària. Pel que fa a la medicina veterinària, aquests compostos s’utilitzen amb finalitat profilàctica, terapèutica i fins i tot com a promotors de creixement en alguns països. Atès que els animals medicats excreten entre un 30 i 90 % de l’agent antimicrobià en la forma no metabolitzada, quan s’utilitzen fems per fertilitzar sòls agrícoles, grans quantitats d’antimicrobians entren contínuament als diferents compartiments ambientals (sòls, sediments, aigües subterrànies i superficials). Els antimicrobians són substàncies bioactives, per tant la seva presència a baixes concentracions, pot afectar la biota, la comunitat microbiana i el que és més preocupant, pot provocar l’aparició de microorganismes patògens resistents. Per tal de preveure destí, comportament ambiental i quantificar la retenció en el sòl d’un fàrmac és important la determinació del coeficient de distribució Kd (L Kg–1). En aquesta tesi s’ha caracteritzat i modelitzat la sorció de les quatre tetraciclines més emprades en veterinària (oxitetraciclina, tetraciclina, clortetraciclina i doxiciclina). S’ha observat que les tetraciclines queden fortament retingudes en el 15 sòls estudiats, amb valors de Kd superiors a 102 L kg–1. Els estudis han posat de manifest que en sòls àcids, el principal mecanisme de sorció és el bescanvi catiònic, mentre que en sòls neutres i bàsics sembla que comencen a ser importants altres tipus d’interaccions (bescanvi catiònic, complexació en superfície, interaccions polars, etc.). El tractament de les dades de sorció mitjançant mètodes quimiomètrics (PCA i PLS) ha permès identificar que les propietats fisicoquímiques del sòl que tenen més influència són pH > CEC > contingut de K2O > contingut de Al2O3 > contingut d’argila. L’estudi de la sorció també ha inclòs el desenvolupament d’un model de sorció que prediu satisfactòriament els log Kd a partir d’aquests 5 descriptors del sòl. D’altra banda, també s’ha establert un model que prediu satisfactòriament els log Kd de tetraciclina, clortetraciclina i doxiciclina a partir de log Kd,oxitetraciclina, pH i CEC corresponents al sòl. El biochar, un tipus de negre de carboni, procedent de la piròlisi de residus de biomassa en absència d’oxigen, s’ha avaluat com a sorbent potencial d’una sulfonamida d’elevada mobilitat (la sulfametazina). En primer lloc, s’han realitzat estudis en el sistema biocharaigua de per tal d’elucidar els mecanismes que tenen lloc en el procés de sorció. S’ha observat que Kd augmenta amb el grau de carbonització (relació H/C) mentre que la linealitat de la isoterma disminueix. D’altra banda, s’ha constatat com el mecanisme i la intensitat de sorció depenen de l’especiació. La sorció segueix el següent ordre: espècie neutra > catiònica > aniònica, amb valors de Kd de fins a 106 L kg-1. Les interaccions Pi-Pi donador-acceptor d’electrons, hidrofòbiques, Van der Waals i ponts d’hidrogen són determinants en la retenció de la sulfametazina en aquests materials. En segon lloc, aquest treball ha posat de manifest que la sorció de sulfametazina en un sòl esmenat amb biochar augmenta amb l’augment del grau de carbonització del biochar i el contingut d’aquest en el sòl. L’estudi també ha demostrat que el temps de contacte entre sòl i biochar poden atenuar aquesta sorció. Per acabar, en aquesta tesi s’ha desenvolupat una nova eina, en un entorn MS-Excel™ pel tractament de dades de sorció: la funció ISOT_Calc i la macro Ref_GN_LM. Aquesta presenta una gran versatilitat en l’estudi d’equilibris de sorció facilitant la selecció del model de sorció, l’ajust de les dades experimentals, etc., [eng]Antimicrobials have long been extensively used to treat infectious disease and promote growth in livestock. Up to 90% of administered sulfonamide drugs can be excreted as the active parent compound and large amounts of sulfonamide residues are released to the environment via land application of contaminated manure. At field concentrations, antimicrobials affect soil microbial community and promote the development of antimicrobial resistance in bacteria. Soil sorption processes dominate transport, fate and possible effects of these chemicals in the environment. Further understanding of mechanisms involved in antimicrobial sorption can definitely help to retard their leaching and run-off to waters. In our studies we have focused on two widely used antimicrobials presenting different environmental mobility: tetracyclines (mostly retained) and sulfonamides (highly mobile). We have determined the sorption coefficients (Kd) of a group of TCs (tetracycline, oxytetracycline, chlortetracycline and doxycycline) in 15 natural soils with different physicochemical properties. The use of multivariate data analyses allowed to elucidate sorption mechanisms involved and to assess the environmental mobility as well. On the other hand, if sulfonamides cannot be prevented from entering soil, we consider of great interest to find means to minimize its transport into ground water and surface waters. Since Biochars is reputed to be a strong adsorbent, we studied the adsorption of the heavily used swine antimicrobial sulfamethazine, to a range of biochars and biochar-amended mixtures to test whether it could reduce pore water concentrations –potentially decreasing sulfamethazine bioavailability– and to provide insights into SMT adsorption. Results showed that depending on biochar physicochemical properties (surface area, surface functional groups, C/H ratio, etc), it could be a potential effective adsorbent for sulfamethazine and decrease its mobility in biochar-amended soils. We have also observed that sulfamethazine retention, significantly decreases with the time of residence of the biochar in soil. This latter phenomenon, commonly known as the “weathering effect”, has been attributed to sorption of native soil substances, such as humic substances. This work has also developed a novel tool (ISOT_Calc/Ref_GN_LM, developed as function and macro for MS-Excel, respectively). The combination of ISOT_Calc/Ref_GN_LM can be used in the evaluation of the isotherm parameters from batch experimental sorption data.

Published
2013

18. POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxia.

Author

Symonds JD, Park KL, Mignot C, Macleod S, Armstrong M, Ashrafian H, Bernard G, Brown K, Brunklaus A, Callaghan M, Classen G, Cohen JS, Cutcutache I, de Sainte Agathe JM, Dyment D, Elliot KS, Isapof A, Joss S, Keren B, Marble M, McTague A, Osmond M, Page M, Planes M, Platzer K, Redon S, Reese J, Saenz M, Smith-Hicks C, Stobo D, Stockhaus C, Vuillaume ML, Wolf NI, Wakeling EL, Yoon G, Knight JC, and Zuberi SM

Abstract

Objective: POLR3B encodes the second largest subunit of RNA polymerase III, which is essential for transcription of small non-coding RNAs. Biallelic pathogenic variants in POLR3B are associated with an inherited hypomyelinating leukodystrophy. Recently, de novo heterozygous variants in POLR3B were reported in six individuals with ataxia, spasticity, and demyelinating peripheral neuropathy. Three of these individuals had epileptic seizures. The aim of this article is to precisely define the epilepsy phenotype associated with de novo heterozygous POLR3B variants., Methods: We used online gene-matching tools to identify 13 patients with de novo POLR3B variants. We systematically collected genotype and phenotype data from clinicians using two standardized proformas., Results: All 13 patients had novel POLR3B variants. Twelve of 13 variants were classified as pathogenic or likely pathogenic as per American College of Medical Genetics (ACMG) criteria. Patients presented with generalized myoclonic, myoclonic-atonic, atypical absence, or tonic-clonic seizures between the ages of six months and 4 years. Epilepsy was classified as epilepsy with myoclonic-atonic seizures (EMAtS) in seven patients and "probable EMAtS" in two more. Seizures were treatment resistant in all cases. Three patients became seizure-free. All patients had some degree of developmental delay or intellectual disability. In most cases developmental delay was apparent before the onset of seizures. Three of 13 cases were reported to have developmental stagnation or regression in association with seizure onset. Treatments for epilepsy that were reported by clinicians to be effective were: sodium valproate, which was effective in five of nine patients (5/9) who tried it; rufinamide (2/3); and ketogenic diet (2/3). Additional features were ataxia/incoordination (8/13); microcephaly (7/13); peripheral neuropathy (4/13), and spasticity/hypertonia (6/13)., Significance: POLR3B is a novel genetic developmental and epileptic encephalopathy (DEE) in which EMAtS is the predominant epilepsy phenotype. Ataxia, neuropathy, and hypertonia may be variously observed in these patients., (© 2024 The Author(s). Epilepsia published by Wiley Periodicals LLC on behalf of International League Against Epilepsy.)

Published
2024
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19. Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.

Author

Wojcik MH, Srivastava S, Agrawal PB, Balci TB, Callewaert B, Calvo PL, Carli D, Caudle M, Colaiacovo S, Cross L, Demetriou K, Drazba K, Dutra-Clarke M, Edwards M, Genetti CA, Grange DK, Hickey SE, Isidor B, Küry S, Lachman HM, Lavillaureix A, Lyons MJ, Marcelis C, Marco EJ, Martinez-Agosto JA, Nowak C, Pizzol A, Planes M, Prijoles EJ, Riberi E, Rush ET, Russell BE, Sachdev R, Schmalz B, Shears D, Stevenson DA, Wilson K, Jansen S, de Vries BBA, and Curry CJ

Subjects
Adult, Child, Female, Humans, Infant, Male, Developmental Disabilities diagnosis, Developmental Disabilities genetics, Phenotype, Protein Phosphatase 2C genetics, Retrospective Studies, Vomiting, Child, Preschool, Adolescent, Young Adult, Middle Aged, Intellectual Disability diagnosis, Intellectual Disability genetics, Intellectual Disability pathology, Neurodevelopmental Disorders diagnosis, Neurodevelopmental Disorders epidemiology, Neurodevelopmental Disorders genetics
Abstract

Jansen-de Vries syndrome (JdVS) is a neurodevelopmental condition attributed to pathogenic variants in Exons 5 and 6 of PPM1D. As the full phenotypic spectrum and natural history remain to be defined, we describe a large cohort of children and adults with JdVS. This is a retrospective cohort study of 37 individuals from 34 families with disease-causing variants in PPM1D leading to JdVS. Clinical data were provided by treating physicians and/or families. Of the 37 individuals, 27 were male and 10 female, with median age 8.75 years (range 8 months to 62 years). Four families document autosomal dominant transmission, and 32/34 probands were diagnosed via exome sequencing. The facial gestalt, including a broad forehead and broad mouth with a thin and tented upper lip, was most recognizable between 18 and 48 months of age. Common manifestations included global developmental delay (35/36, 97%), hypotonia (25/34, 74%), short stature (14/33, 42%), constipation (22/31, 71%), and cyclic vomiting (6/35, 17%). Distinctive personality traits include a hypersocial affect (21/31, 68%) and moderate-to-severe anxiety (18/28, 64%). In conclusion, JdVS is a clinically recognizable neurodevelopmental syndrome with a characteristic personality and distinctive facial features. The association of pathogenic variants in PPM1D with cyclic vomiting bears not only medical attention but also further pathogenic and mechanistic evaluation., (© 2023 Wiley Periodicals LLC.)

Published
2023
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