Overview

Fragile X syndrome (FXS) is the most common cause of inherited mental retardation with a worldwide prevalence of 1/4000 in males and of 1/8000 in females. Individuals with FXS exhibit a range of emotional and neurocognitive features including intellectual disability hyperactivity and attention problems, executive function deficits, hyperreactivity to stimuli, anxiety and mood instability, and ASDs. Fragile X syndrome is caused by a mutation int eh FMR1 gene leading to a deficit in FMR1 gene protein (FMRP). In general, the severity of the FXS physical phenotype and intellectual impairment is correlated with the magnitude of the FMRP deficit.

At this time, there is no specific treatment for FXS and clinical practice varies. The most common medications used to treat the FXS symptoms are stimulants (i.e. methylphenidate), selective serotonin reuptake inhibitors (SSRIs), alphaadrenoreceptor agonists, mood stabilizers, and antipsychotic medication. The use of any of these drugs is compromised by their limited efficacy and safety profile.

In recent years, there has been a new understanding of the neurobiology of FXS that involves the metabotropic glutamate receptor (mGluR). Based on the location and on the activity of mGluR in the central nervous system, there is a plausible relation between many of the phenotypic features in FXS and the deregulation of fragile X mental retardation protein (FMRP) activation. If this hypothesis is correct, mGluR antagonists should be a novel pharmacological approach to normalize the deficits caused by the lack of FMRP.

Publications

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
Genome medicine
Gillentine MA and Wang T and Hoekzema K and Rosenfeld J and Liu P and Guo H and Kim CN and De Vries BBA and Vissers LELM and Nordenskjold M and Kvarnung M and Lindstrand A and Eichler EE
DOI: 10.1186/s13073-021-00870-6
PubMed: 33874999
04/2021

A Novel Germline Heterozygous BCL11B Variant Causing Severe Atopic Disease and Immune Dysregulation
Frontiers in Immunology
Lu, H.Y. and Sertori, R. and Contreras, A.V. and Hamer, M. and Messing, M. and Del Bel, K.L. and Lopez-Rangel, E. and Chan, E.S. and Rehmus, W. and Milner, J.D. and McNagny, K.M. and Lehman, A. and Wiest, D.L. and Turvey, S.E.
DOI: 10.3389/fimmu.2021.788278
2021

Rare SUZ12 variants commonly cause an overgrowth phenotype.
American journal of medical genetics. Part C, Seminars in medical genetics
Cyrus SS and Cohen ASA and Agbahovbe R and Avela K and Yeung KS and Chung BHY and Luk HM and Tkachenko N and Choufani S and Weksberg R and Lopez-Rangel E and C.A.U.S.E.S. Study and Gibson WT
DOI: 10.1002/ajmg.c.31748
PubMed: 31736240
11/2019

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.
American journal of human genetics
Haijes HA and Koster MJE and Rehmann H and Li D and Hakonarson H and Cappuccio G and Hancarova M and Lehalle D and Reardon W and Schaefer GB and Lehman A and van de Laar IMBH and van Hasselt PM
DOI: 10.1016/j.ajhg.2019.06.016
PubMed: 31353023
07/2019

Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy.
Frontiers in neurology
Demos M and Guella I and DeGuzman C and McKenzie MB and Buerki SE and Evans DM and Toyota EB and Boelman C and Huh LL and Datta A and Michoulas A and Selby K and Bjornson BH and Horvath G and Farrer MJ
DOI: 10.3389/fneur.2019.00434
PubMed: 31164858
05/2019

Clinical and genetic characteristics of late-onset Huntington's disease
Parkinsonism and Related Disorders
Oosterloo, M. and Bijlsma, E.K. and van Kuijk, S.M. and Minkels, F. and de Die-Smulders, C.E. and Bachoud-Lévi, A.-C. and Bentivoglio, A.-R. and Biunno, I. and Bonelli, R.M. and Bronzova, J. and Burgunder, J.-M. and Dunnett, S.B. and Ferreira, J.J. and Frich, J. and Giuliano, J. and Handley, O.J. and Heiberg, A. and Illarioshkin, S. and Illmann, T. and Klempir, J. and Landwehrmeyer, G.B. and Levey, J. and McLean, T. and Nielsen, J.E. and Koivisto, S.P. and Päivärinta, M. and P?lhagen, S. and Quarrell, O. and Ramos-Arroyo, M. and Roos, R.A.C. and Saft, C. and Sebastián, A.R. and Tabrizi, S.J. and Vandenberghe, W. and Verellen-Dumoulin, C. and Uhrova, T. and Wahlström+, J. and Zaremba, J. and (formerly Rödig, V.B. and Barth, K. and Garde, M.B. and Becanovic, K. and Bernard, T. and Betz, S. and Bos, R. and Come, A. and Guedes, L.C. and Callaghan, J. and Capodarca, S. and Charpentier, S. and Vieira da Silva, W. and Di Renzo, M. and Ecker, D. and Finisterra, A.M. and Fullam, R. and Genoves, C. and Gilling, M. and Horta, A. and Hvalstedt, C. and Held, C. and Hussain, H. and Koppers, K. and Lamanna, C. and Laurà, M. and Descals, A.M. and Martinez-Horta, S. and Mestre, T. and Minster, S. and Monza, D. and Münkel, K. and Mütze, L. and Oehmen, M. and Padieu, H. and Paterski, L. and Peppa, N. and Rindal, B. and Rogers, D. and R?ren (formerly Heinonen), N. and Salgueiro, A. and ?a?inková, P. and Seliverstov, Y. and Taylor, C. and Timewell, E. and Townhill, J. and Cubillo, P.T. and van Walsem, M.R. and Witjes-Ané, M.-N. and Witkowski, G. and Wright, A. and Yudina, E. and Zielonka, D. and Zielonka, E. and Zinzi, P. and Hecht, K. and Herranhof, B. and Holl (formerly Hödl), A. and Kapfhammer, H.-P. and Koppitz, M. and Lilek, S. and Magnet, M. and Müller, N. and Otti, D. and Painold, A. and Reisinger, K. and Scheibl, M. and Schöggl, H. and Ullah, J. and Braunwarth, E.-M. and Brugger, F. and Buratti, L. and Hametner, E.-M. and Hepperger, C. and Holas, C. and Hotter, A. and Hussl, A. and Larcher, B. and Mahlknecht, P. and Müller, C. and Pinter, B. and Poewe, W. and Reiter, E.-M. and Seppi, K. and Sprenger, F. and Wenning, G. and Ladurner, G. and Lilek, S. and Sinadinosa, D. and Staffen, W. and Walleczek, A.M. and Linder, C. and Pirker, W. and Liessens, D. and Calmeyn, G. and Somers, N. and Delvaux, I. and Boogaerts, A. and Flamez, A. and de Raedt, S. and Alaerts, N. and Slama, H. and Supiot, F. and Constant, E. and Gillardin, A.-F. and Léonard, M.-C. and van de Wyngaerde, F. and Dupuis, M. and Minet, C. and Ribaï, P. and Van Paemel, D. and van Reijen, D. and Weckx, P. and Kaiserova, M. and ?enkárová, Z. and Bezdí?ek, O. and Klempí?, J. and Klempí?ová, O. and Majerová-Ibarburu, V. and Nikolai, T. and Roth, J. and Stárková, I. and Madsen, L.H. and M?ller, A.T. and Hjermind, L. and Jacobsen, O. and Larsen, I.U. and Lindquist, S. and Nielsen, J. and Regeur, L. and Roos, P. and Stockholm, J. and Vangsted-Hansen, C. and Vinther-Jensen, T. and Lolk, A. and Lundsgaard, M. and Wermuth, L. and Andersson, C. and Nyberg, C. and Sundblom, J. and Peippo, M. and Sipponen, M. and Bruun, A. and Hartikainen, P. and Mäkipää, S. and Ollokainen, M. and ?man, J. and Kärppä, M. and Ignatius, J. and Jääskeläinen, O. and Kajula, O. and Moilanen, J. and Mustonen, A. and Santala, M. and Eklund, P. and Hiivola, H. and Hyppönen, H. and Martikainen, K. and Ojala, M. and Tähkäpää, S. and Tuuha, K. and Allain, P. and Bonneau, D. and Bost, M. and Gohier, B. and Guérid, M.-A. and Olivier, A. and Prouzet, J. and Prundean, A. and Scherer-Gagou, C. and Verny, C. and Babiloni, B. and Bled, D. and Debruxelles, S. and Duché, C. and Fraisse, S. and Goizet, C. and Jameau, L. and Lafoucrière, D. and Spampinato, U. and Couttier, J. and Debilly, B. and Delaigue, C. and Derost, P. and Durif, F. and Germain, V. and Legendre, P. and Loiseau, S. and Marques, A. and Ulla, M. and Vidal, T. and Badei, F. and Boissé, M.-F. and Boudali, L. and Cleret de Langavant, L. and Lemoine, L. and Morgado, G. and Youssov, K. and Annic, A. and Barthélémy, R. and De Bruycker, C. and Cabaret, M. and Carette, A.-S. and Carrière, N. and Decorte, E. and Defebvre, L. and Delliaux, M. and Delval, A. and Depelchin, A. and Destee, A. and Dewulf-Pasz, N. and Dondaine, T. and Dugauquier, F. and Dujardin, K. and Hopes, L. and Krystkowiak, P. and Lemaire, M.-H. and Manouvrier, S. and Mutez, E. and Peter, M. and Plomhause, L. and Sablonnière, B. and Simonin, C. and Tard, C. and Thibault-Tanchou, S. and Vuillaume, I. and Bellonet, M. and Blin, S. and Chen, S. and Masmoudi, K. and Morin, G. and Roussel, M. and Tir, M. and Schüler, B. and Wannepain, S. and Zouitina, Y. and Azulay, J.-P. and Delfini, M. and Eusebio, A. and Fluchere, F. and Guenam, A. and Mundler, L. and Nguyen, K. and Benaich, S. and Brice, A. and Boster, S. and Charles, P. and Durr, A. and Ewenczyk, C. and Francisque, H. and Jauffret, C. and Justo, D. and Kassar, A. and Klebe, S. and Lesne, F. and Milani, P. and Monin, M.-L. and Monnier, T. and Roze, E. and Tataru, A. and Tchikviladzé, M. and Bioux, S. and Bliaux, E. and Girard, C. and Guyant-Maréchal, L. and Hannequin, D. and Hannier, V. and Jourdain, S. and Maltête, D. and Pouliquen, D. and Anheim, M. and Barun, N. and Lagha-Boukbiza, O. and Longato, N. and Marcel, C. and Phillipps, C. and Rudolf, G. and Steinmetz, G. and Tranchant, C. and Wagner, C. and Zimmermann, M.-A. and Blondeau, L. and Calvas, F. and Cheriet, S. and Delabaere, H. and Demonet, J.-F. and Marquine, L. and Pariente, J. and Pierre, M. and Pomies, E. and Rolland, S. and Souyris, C. and Kosinski, C.M. and Milkereit, E. and Probst, D. and Reetz, K. and Sass, C. and Schiefer, J. and Schlangen, C. and Werner, C.J. and Beuth, M. and Gelderblom, H. and Priller, J. and Prüß, H. and Spruth, E. and Thiel, S. and Andrich, J. and Ellrichmann, G. and Herrmann, L. and Hoffmann, R. and Kaminski, B. and Kraus, P. and Stamm, C. and Ganos, C. and Stubbe, L. and Tadic, V. and Tübing, J. and Lange, H. and Bosredon, C. and Hunger, U. and Löhle, M. and Maass, A. and Ossig, C. and Schmidt, S. and Storch, A. and Wolz, A. and Wolz, M. and Kohl, Z. and Kozay, C. and Winkler, J. and Bergmann, U. and Böringer, R. and Capetian, P. and Kammel, G. and Lambeck, J. and Mächtel, M. and Meier, S. and Rijntjes, M. and Zucker, B. and Boelmans, K. and Goerendt, I. and Heinicke, W. and Hidding, U. and Lewerenz, J. and Münchau, A. and Orth, M. and Schmalfeld, J. and Zittel, S. and Diercks, G. and Dressler, D. and Francis, F. and Gayde-Stephan, S. and Gorzolla, H. and Kramer, B. and Minschke, R. and Schrader, C. and Tacik, P. and Ribbat+, M. and Longinus, B. and Möller, C. and Bürk, K. and Lüsebrink, A. and Mühlau, M. and Peinemann, A. and Städtler, M. and Weindl, A. and Winkelmann, J. and Ziegler, C. and Bechtel, N. and Beckmann, H. and Bohlen, S. and Göpfert, N. and Hölzner, E. and Reilmann, R. and Rohm, S. and Rumpf, S. and Schepers, S. and Weber, N. and Bachmeier, M. and Dose, M. and Hofstetter, N. and Marquard, R. and Mühlbäck, A. and Buck, A. and Connemann, J. and Geitner, C. and Kesse, A. and Landwehrmeyer, B. and Lezius, F. and Nepper, S. and Niess, A. and Schneider, A. and Schwenk, D. and Süssmuth, S. and Trautmann, S. and Vogel, M. and Weydt, P. and Musacchio, T. and Leypold, C. and Nöth, K. and Cormio, C. and Difruscolo, O. and Franco, G. and Nuzzi, A. and Sciruicchio, V. and Serpino, C. and de Tommaso, M. and Calandra-Buonaura, G. and Capellari, S. and Cortelli, P. and Gallassi, R. and Poda, R. and Scaglione, C. and Agosti, C. and Barlati, S. and Compostella, S. and Marchina, E. and Padovani, A. and Figorilli, M. and Marrosu, F. and Muroni, A. and Piras, V. and Vacca, M. and Bertini, E. and Bartoli, C. and Fortunato, F. and Ghelli, E. and Ginestroni, A. and Mechi, C. and Paganini, M. and Piacentini, S. and Pradella, S. and Romoli, A.M. and Sorbi, S. and Abbruzzese, G. and Bandettini di Poggio, M. and Ferrandes, G. and Mandich, P. and Marchese, R. and Di Maria, E. and Tamburini, T. and Albanese, A. and Castagliuolo, S. and Castaldo, A. and Di Donato, S. and Di Bella, D. and Gellera, C. and Genitrini, S. and Mariotti, C. and Nanetti, L. and Panzeri, M. and Paridi, D. and Soliveri, P. and Spagnolo, F. and Taroni, F. and Tomasello, C. and De Michele, G. and Di Maio, L. and Rinaldi, C. and Massarelli, M. and Peluso, S. and Roca, A. and Russo, C.V. and Salvatore, E. and Sorrentino, P. and Tucci, T. and Cannella, M. and Codella, V. and De Gregorio, F. and De Nicola, A. and Elifani, F. and Esposito, C. and Martino, T. and Mazzante, I. and Petrollini, M. and Simonelli, M. and Vezza, M. and Squitieri, F. and D'Alessio, B. and Lovo, F. and Bove, F. and Catalli, C. and Di Giacopo, R. and Fasano, A. and Frontali, M. and Guidubaldi, A. and Ialongo, T. and Jacopini, G. and Loria, G. and Modoni, A. and Petracca, M. and Piano, C. and Chiara, P. and Quaranta, D. and Romano, S. and Soleti, F. and Solito, M. and Spadaro, M. and Torlizzi, F. and Coarelli, G. and Ferraldeschi, M. and Ristori, G. and van Hout, M.S.E. and van Vugt, J.P.P. and Marit de Weert, A. and Verhoeven, M. and Dekker, M. and Klooster, J. and Leenders, N. and van Oostrom, J. and Kremer, B. and Baake, V. and van den Bogaard, S.J.A. and Dumas, E.M. and t Hart, E.P. and Hogenboom, M. and Jacobs, M. and Jurgens, C. and Kampstra, A. and Schoonderbeek, A. and Witjes-Ané, M.-N. and Duits, A. and Waber, M. and Verstappen, C. and Blinkenberg, E.?. and Hauge, E. and Tyvoll, H. and Aaserud, O. and Aanonsen, N.O. and Bj?rgo, K. and Borger?d, N. and Dramstad, E. and Fannemel, M. and Frich, J.C. and G?rvell, P.F. and Haggag, K. and Johannessen, C.H. and Retterst?l, L. and R?sby, O. and Rummel, J. and Sikiric, A. and Stokke, B. and van Walsem, M. and Wehus, R. and Arntsen, V. and Bj?rnevoll, I. and Sando, S.B. and Haug, M.G. and St?rseth, H.H. and ?stern, R. and Paulsen, J. and Dziadkiewicz, A. and Konkel, A. and Naro?a?ska, E. and Nowak, M. and Robowski, P. and Sitek, E. and Slawek, J. and Soltan, W. and Szinwelski, M. and Arkuszewski, M. and B?aszczyk, M. and Boczarska-Jedynak, M. and Ciach-Wysocka, E. and Gorzkowska, A. and Jasi?ska-Myga, B. and Kaczmarczyk, A. and K?odowska ? Duda, G. and Opala, G. and Rudzi?ska, M. and Stompel, D. and Banaszkiewicz, K. and Bo?wi?ska, D. and Bojakowska-Jaremek, K. and Dec, M. and Grabska, N. and Krawczyk, M. and Kubowicz, E. and Malec-Litwinowicz, M. and Stenwak, A. and Szczudlik, A. and Szczygie?, E. and Wójcik, M. and Wasielewska, A. and Anna Bryl, J.A. and Ciesielska, A. and Klimberg, A. and Marcinkowski, J. and Samara, H. and Sempo?owicz, J. and Wi?niewski, B. and Gogol (formerly Kalbarczyk), A. and Janik, P. and Jamrozik, Z. and Kaminska, A. and Kwiecinski+, H. and Antczak, J. and Jachinska, K. and Krysa, W. and Rakowicz, M. and Rola, R. and Ryglewicz, D. and Sienkiewicz-Jarosz, H. and St?pniak, I. and Su?ek, A. and Zdzienicka, E. and Ziora-Jakutowicz, K. and Januário, C. and JÚlio, F. and Almeida, M. and Calado, A. and Dias, M. and Morgado, J. and Semedo, C. and Coelho, M. and Magalhães, A. and Mendes, T. and Neutel, D. and Rodrigues, F. and Valadas, A. and Costa, C. and Cardoso, H. and Santos, M. and Ca?ão, G. and Cavaco, S. and Damásio, J. and Fernandes, J. and Gon?alves, A. and Loureiro, R. and Moreira, I. and Magalhães, M. and Salgado, P. and Andrade, C. and Costa, A. and Garrett, C. and Gago, M. and Guimarães, J. and Massano, J. and Meireles, J. and Monteiro, A. and Khasanova, D. and Zalyalova, Z. and Klyushnikov, S. and Sidorova, O. and Smirnov, O. and Antonova, V. and Kopishinskaya, S. and Korotysh, M. and Magzhanov, R. and Saifullina, E. and Kurbatov, S. and Solis, P. and Herrera, C.D. and Moreno, P.G. and Bas, J. and Busquets, N. and Calopa, M. and Classen, S.J. and Dedichá, N.R. and Buongiorno, M.T. and María, A.D.L.C.S. and Muñoz, E. and Santacruz, P. and Barbera, M.A. and Pardo, S.A. and Guia, D.B. and Calzado, N. and Hernanz, L.C. and Tartari Díaz-Zorita, J.P. and Catena, J.L. and Ferrer, P.Q. and Carruesco, G.T. and Robert, M.F. and Viladrich, C.M. and Roca, E. and Ruiz Idiago, J.M. and Riballo, A.V. and Campolongo, A. and Fernandez de Bobadilla, R. and Bojarsky, J.K. and Pagonabarraga, J. and Perez, J.P. and Ribosa, R. and Villa, C. and Acera Gil, M.A. and Corrales, K.B. and Gomez Esteban, J.C. and González, A. and Merino, B.T. and Cubo, E. and Polo, C.G. and Mariscal, N. and Sánchez, J. and Romero, S.G. and Arbelo, J.M. and Malo de Molina, R. and Martín, I. and Periañez, J.M. and Udaeta, B. and Alonso-Frech, F. and Loarte, M.D.V. and Barrero, F. and Morales, B. and Frades, B. and Villanueva, M.?. and Zea Sevilla, M.A. and Fenollar, M.D.M. and García-Ramos García, R. and Villanueva, C. and Bascuñana, M. and Ventura, M.F. and Caldentey, J.G. and Ribas, G.G. and García de Yébenes, J. and López?Sendón Moreno, J.L. and Barral, V.M. and Feliz, C. and García Ruíz, P.J. and García, A. and López, R.G. and Bárcenas, A.H. and Martínez-Descals, A. and Pueyo, A.M. and Martin, V.P. and Martínez, N.R. and Montojo, T. and Sainz Artiga, M.J. and Sánchez, V. and Alarcón, M.D. and Almagro, C.A. and Diéguez, E. and Fortuna, L. and Legaz, A. and Manzanares, S. and Muñoz, J.M. and Antequera Torres, M.M. and Perea, F.N. and Vivancos, L. and González, S. and Guisasola, L.M. and Prieto, M.P. and Ribacoba, R. and Salvador, C. and Lozano, P.S. and Ramirez, I.L. and Benito, D.M. and Arques, P.N. and Lopera, M.R. and Pastor, B.V. and Gaston, I. and Garcia-Amigot, F. and Martinez-Jaurrieta, M.D. and Ramos-Arroyo, M.A. and Adarmes, A. and Bernal-Escudero, M. and Carrillo, F. and JesÚs, S. and Mir, P. and Vargas-González, L. and Hermoso, F.D. and García Moreno, J.M. and Jaramillo, J.A. and Lucena, C.M. and Pacheco Cortegana, E.M. and Peña, J.C. and Redondo, L. and Sánchez, V.S. and Fernandez, C.M. and Romero Lemos, M.D. and Mata, M.P. and Casado, R.V. and Bosca, M. and Burguera, J.A. and Brugada, F.C. and Millán Salvador, J.M. and Vilaplana, C.P. and Solís, P. and Figuerola, B.J. and Palanca, P.M. and Diago, E.B. and López del Val, J. and Martinez, L.M. and López, E. and H?sterey-Ugander, U. and Fredlund, G. and Constantinescu, R. and Lewin, K. and Neleborn-Lingefjärd, L. and Berglund, M. and Berglund, P. and Linnsand, P. and Petersén, ?. and Reimer, J. and Widner, H. and Esmaeilzadeh, M. and Tedroff, J. and Winnberg, E. and Benaminov, S. and Björnsson, E. and Merrick, D. and Paucar, M. and Svenningsson, P. and Wallden, T. and Berglund, M. and Loutfi, G. and Olofsson, C. and Stattin, E.-L. and Westman, L. and Wikström, B. and Ekwall, C. and Göller, M.-L. and Johansson, A. and Niemelä, V. and Nyholm, D. and Wiklund, L. and Koehli, J. and Stebler, Y. and Kaelin, A. and Romero, I. and Schüpbach, M. and Zaugg, S.W. and Esposito, F. and Good, J.-M. and Paus, K. and Vingerhoets, F. and Wider+, C. and Jung, H.H. and Petersen, J.A. and Ligon-Auer, M. and Mihaylova, V. and Downie, L. and Jack, R. and Matheson, K. and Miedzybrodzka, Z. and Rae, D. and Simpson, S.A. and Summers, F. and Ure, A. and Vaughan, V. and Harrower, T. and Vernon, N. and Akhtar, S. and Crooks, J. and Curtis, A. and de Souza (Keylock), J. and Piedad, J. and Rickards, H. and Wright, J. and Haig-Brown, D. and Craven, J. and Pallett, A. and Simpson, S. and Weekes, R. and Coulthard, E. and Gethin, L. and Hayward, B. and Sieradzan, K. and Barker, R.A. and O'Keefe, D. and Gerrtiz (nee Di Pietro), A. and Fisher, K. and Goodman, A. and Hill, S. and Mason, S. and Swain, R. and Guzman, N.V. and Busse, M. and Butcher, C. and Dunnett, S. and Clenaghan, C. and Hunt, S. and Jones, L. and Jones, U. and Khalil, H. and Owen, M. and Price, K. and Rosser, A. and Goudie, D. and Buchanan, L. and McFadyen, P. and Tonner, A. and Taylor, A.-M. and Edwards, M. and Ho, C. and McGill, M. and Porteous, M. and Pearson, P. and Irvine, S. and Brockie, P. and Foster, J. and Johns, N. and McKenzie, S. and Rothery, J. and Thomas, G. and Yates, S. and Neumann, C. and Patterson, K. and Thomson, D. and Deith, C. and Ireland, J. and Ritchie, S. and Brown, P. and Burrows, L. and Fletcher, A. and Harding, A. and Harrison, K. and Laver, F. and Silva, M. and Thomson, A. and Chu, C. and Evans, C. and Gallentree, D. and Hamer, S. and Kraus, A. and Markova, I. and Raman, A. and Rowett, L. and Andrew, A. and Frost, J. and Noad, R. and Cosgrove, J. and Gallantree, D. and Hobson, E. and Jamieson, S. and Longthorpe, M. and Musgrave, H. and Peacy, C. and Toscano, J. and Wild, S. and Yardumian, P. and Clayton, C. and Dipple, H. and Freire-Patino, D. and Hallam, C. and Middleton, J. and Alusi, S. and Davies, R. and Foy, K. and Gerrans, E. and Pate, L. and Anjum, U. and Coebergh, J. and Eddy, C. and Lahiri, N. and McEntagart, M. and Patton, M. and Peterson, M. and Rose, S. and Andrews, T. and Dougherty, A. and Golding, C. and Kavalier, F. and Laing, H. and Lashwood, A. and Robertson, D. and Ruddy, D. and Santhouse, A. and Whaite, A. and Gosling (nee Brown), S. and Bruno, S. and Chu, E. and Doherty, K. and Haider, S. and Hensman, D. and Lewis, M. and Novak, M. and Patel, A. and Robertson, N. and Rosser, E. and Tabrizi, S. and Taylor, R. and Warner, T. and Wild, E. and Ackermann, O. and Duport, S. and Scott, A. and Stoy, N. and Vaughn, J. and Arran, N. and Bek, J. and Craufurd, D. and Hare, M. and Howard, L. and Huson, S. and Johnson, L. and Jones, M. and Krishnamoorthy, A. and Murphy, H. and Oughton, E. and Partington-Jones, L. and Sollom, A. and Snowden, J. and Stopford, C. and Thompson, J. and Trender-Gerhard, I. and Verstraelen (formerly Ritchie), N. and Westmoreland, L. and Cass, G. and Davidson, L. and Davison, J. and Fullerton, N. and Holmes, K. and Komati, S. and McDonnell, S. and Mohammed, Z. and Morgan, K. and Savage, L. and Singh, B. and Wood, J. and Knight, C. and O'Neill, M. and Purkayastha, D.D. and Nemeth, A.H. and Siuda, G. and Valentine, R. and Dixon, K. and Armstrong, R. and Harrison, D. and Hughes, M. and Large, S. and Donovan, J.O. and Palmer, A. and Parkinson, A. and Soltysiak, B. and Timings, L. and Williams, J. and Burn, J. and Bailey, W. and Coleman, C. and Majeed, T. and Verstraelen (Ritchie), N. and Barrett, W. and Ho, A. and Bandmann, O. and Bradbury, A. and Fairtlough, H. and Fillingham, K. and Foustanos, I. and Gill, P. and Kazoka, M. and O'Donovan, K. and Nevitt, L. and Taylor, C. and Tidswell, K. and Kipps, C. and MacKinnon, L. and Agarwal, V. and Hayward, E. and Gunner, K. and Harris, K. and Anderson, M. and Heywood, M. and Keys, L. and Smalley, S. and El-Nimr, G. and Duffell, A. and Wood, S. and Kennedy (nee Smith), K. and Gowers, L. and Powell, K. and Bethwaite, P. and Edwards, R. and Fuller, K. and Phillips, M. and Tan, L. and Lau, P.N. and Pica, E. and Roos, R.A.
DOI: 10.1016/j.parkreldis.2018.11.009
2019

NBEA: Developmental disease gene with early generalized epilepsy phenotypes.
Annals of neurology
Mulhern MS and Stumpel C and Stong N and Brunner HG and Bier L and Lippa N and Riviello J and Rouhl RPW and Kempers M and Pfundt R and Stegmann APA and Kukolich MK and Telegrafi A and Sands TT
DOI: 10.1002/ana.25350
PubMed: 30269351
10/2018

Diagnostic yield and treatment impact of targeted exome sequencing in early-onset epilepsy
bioRxiv
Demos, M. and Guella, I. and McKenzie, M.B. and Buerki, S.E. and Evans, D.M. and Toyota, E.B. and Boelman, C. and Huh, L.L. and Datta, A. and Michoulas, A. and Selby, K. and Bjornson, B.H. and Horvath, G. and Lopez-Rangel, E. and van Karnebeek, C.D.M. and Salvarinova, R. and Slade, E. and Eydoux, P. and Adam, S. and van Allen, M.I. and Nelson, T.N. and Bolbocean, C. and Connolly, M.B. and Farrer, M.J.
DOI: 10.1101/139329
2017

BMPER variants associated with a novel, attenuated subtype of diaphanospondylodysostosis
Journal of Human Genetics
Zong, Z. and Tees, S. and Miyanji, F. and Fauth, C. and Reilly, C. and Lopez, E. and Tredwell, S. and Paul Goldberg, Y. and Delaney, A. and Eydoux, P. and Van Allen, M. and Lehman, A.
DOI: 10.1038/jhg.2015.116
2015

Genotype–phenotype analysis of 18q12.1-q12.2 copy number variation in autism
European Journal of Medical Genetics
Peter Wang and Prescilla Carrion and Ying Qiao and Christine Tyson and Monica Hrynchak and Kristina Calli and Elena Lopez-Rangel and Joris Andrieux and Bruno Delobel and Bénédicte Duban-Bedu and Ann-Charlotte Thuresson and Göran Annerén and Xudong Liu and Evica Rajcan-Separovic and M.E. Suzanne Lewis
DOI: 10.1016/j.ejmg.2013.05.006
08/2013

Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability
Clinical Genetics
Qiao, Y. and Tyson, C. and Hrynchak, M. and Lopez-Rangel, E. and Hildebrand, J. and Martell, S. and Fawcett, C. and Kasmara, L. and Calli, K. and Harvard, C. and Liu, X. and Holden, J.J.A. and Lewis, S.M.E. and Rajcan-Separovic, E.
DOI: 10.1111/j.1399-0004.2012.01860.x
2013

The value of a genetic diagnosis for individuals with intellectual disabilities: Optimising healthcare and function across the lifespan
British Journal of Developmental Disabilities
Lopez-Rangel, E. and Mickelson, E.C.R. and Lewis, M.E.S.
DOI: 10.1179/096979508799103215
2008

The neoplastic risk in children with noonan syndrome and Costello syndrome
Clinical Genetics
Lopez-Rangel, E.
DOI: 10.1111/j.1399-0004.2006.00726_2.x
2007

Overlapping clinical phenotypes: The road to identifying dysmorphology signalling pathways and their associated risks
Clinical Genetics
Lopez-Rangel, E.
DOI: 10.1111/j.1399-0004.2006.00726_1.x
2007

Loud and clear evidence for gene silencing by epigenetic mechanisms in autism spectrum and related neurodevelopmental disorders.
Clinical genetics
Lopez-Rangel E and Lewis ME
DOI: 10.1111/j.1399-0004.2006.00543a.x
PubMed: 16451129
01/2006

The tale of a belly button: Rieger syndrome
Clinical Pediatrics
Khashu, M. and Osiovich, H. and Rudman, D. and Lopez, E. and Langlois, S.
DOI: 10.1177/0009922806289623
2006

Systemic lupus erythematosus and other autoimmune disorders in children with Noonan syndrome.
American journal of medical genetics. Part A
Lopez-Rangel E and Malleson PN and Lirenman DS and Roa B and Wiszniewska J and Lewis ME
DOI: 10.1002/ajmg.a.31017
PubMed: 16283670
12/2005

Prenatal exposure to fluconazole: an identifiable dysmorphic phenotype.
Birth defects research. Part A, Clinical and molecular teratology
Lopez-Rangel E and Van Allen MI
DOI: 10.1002/bdra.20189
PubMed: 16265639
11/2005

Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome.
American journal of medical genetics
Wang MS and Schinzel A and Kotzot D and Balmer D and Casey R and Chodirker BN and Gyftodimou J and Petersen MB and Lopez-Rangel E and Robinson WP
DOI: 10.1002/(sici)1096-8628(19990903)86:13.0.co;2-4
PubMed: 10440826
09/1999

Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome
American Journal of Medical Genetics
Wang, M.S. and Schinzel, A. and Kotzot, D. and Balmer, D. and Casey, R. and Chodirker, B.N. and Gyftodimou, J. and Petersen, M.B. and Lopez-Rangel, E. and Robinson, W.P.
DOI: 10.1002/(SICI)1096-8628(19990903)86:13.0.CO;2-4
1999

Bone dysplasias, nontraditional mechanisms of inheritance and monozygotic twins.
Pediatric radiology
Hall JG and Lopez-Rangel E
DOI: 10.1007/s002470050160
PubMed: 9133355
05/1997

An introduction to genomic imprinting and parent of origin effects.
Acta geneticae medicae et gemellologiae
Hall JG and Lopez-Rangel E
DOI: 10.1017/s0001566000001100
PubMed: 8872011
01/1996

Embryologic development and monozygotic twinning.
Acta geneticae medicae et gemellologiae
Hall JG and Lopez-Rangel E
DOI: 10.1017/s0001566000001094
PubMed: 8872010
01/1996

An introduction to genomic imprinting and parent of origin effects
Acta Geneticae Medicae et Gemellologiae
Hall, J.G. and Lopez-Rangel, E.
DOI: 10.1017/S0001566000001100
1996

Embryologic development and monozygotic twinning
Acta Geneticae Medicae et Gemellologiae
Hall, J.G. and Lopez-Rangel, E.
DOI: 10.1017/S0001566000001094
1996

New mechanisms for genetic disease and nontraditional modes of inheritance.
Advances in pediatrics
Langlois S and Lopez-Rangel E and Hall JG
PubMed: 8540441
01/1995

New mechanisms for genetic disease and nontraditional modes of inheritance.
Advances in pediatrics
Langlois S and Lopez-Rangel E and Hall JG
PubMed: 8540441
01/1995

New mechanisms for genetic disease and nontraditional modes of inheritance.
Advances in pediatrics
Langlois, S. and Lopez-Rangel, E. and Hall, J.G.
1995

Non-traditional forms of inheritance in skeletal dysplasias.
Pediatric radiology
Hall JG and Lopez-Rangel E
DOI: 10.1007/bf02011905
PubMed: 7700715
01/1994

Non-traditional forms of inheritance in skeletal dysplasias
Pediatric Radiology
Hall, J.G. and Lopez-Rangel, E.
DOI: 10.1007/BF02011905
1994

Partial duplication of 3q (q25.1-->q26.1) without the Brachmann-de Lange phenotype.
American journal of medical genetics
Lopez-Rangel E and Dill FJ and Hrynchak MA and Van Allen MI
DOI: 10.1002/ajmg.1320470727
PubMed: 8291525
11/1993

Cardio-facio-cutaneous (CFC) syndrome in a child carrying an inherited inversion of chromosome 7.
American journal of medical genetics
Lopez-Rangel E and Hrynchak M and Friedman JM
DOI: 10.1002/ajmg.1320470306
PubMed: 8135275
09/1993

Williams syndrome in adults.
American journal of medical genetics
Lopez-Rangel E and Maurice M and McGillivray B and Friedman JM
DOI: 10.1002/ajmg.1320440605
PubMed: 1481839
12/1992

Research

Current Projects
Clinical Research Trials of mGluR antagonists for the treatment of Fragile X syndrome in pediatric and adult patients.

Honours & Awards

Scholarship to Study Abroad. Universidad Autonoma de Nuevo Leon, Nuevo Leon, Mexico Sept 1990 - Sept 1991

Summer Student Research Scholarship. Vancouver Foundation. Vancouver, British Columbia. 1991.

Effie E. Lefaux Scholarship in Mental Retardation. University of British Columbia. 1991.

Research Group Members

Maria Chan, Division Assistant, Sunnyhill