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.
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study
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Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
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Somatic mosaicism detected by genome-wide sequencing in 500 parent–child trios with suspected genetic disease: clinical and genetic counseling implications
Cold Spring Harbor Molecular Case Studies
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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.
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
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
Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy.
Frontiers in neurology
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Clinical and genetic characteristics of late-onset Huntington's disease
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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.
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
Diagnostic yield and treatment impact of targeted exome sequencing in early-onset epilepsy
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.
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.
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
Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability
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.
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.
Loud and clear evidence for gene silencing by epigenetic mechanisms in autism spectrum and related neurodevelopmental disorders.
Lopez-Rangel E and Lewis ME
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
Prenatal exposure to fluconazole: an identifiable dysmorphic phenotype.
Birth defects research. Part A, Clinical and molecular teratology
Lopez-Rangel E and Van Allen MI
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
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.
New mechanisms for genetic disease and nontraditional modes of inheritance.
Advances in pediatrics
Langlois, S. and Lopez-Rangel, E. and Hall, J.G.
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
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
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