• du Souich, Christèle

    Titles
    Investigator, BC Children's Hospital
    Clinical Assistant Professor, Department of Medical Genetics, University of British Columbia
    Degrees / Designations
    M.Sc., CGC, CCGC
    Primary Area of Research
    Childhood Diseases
    Secondary Area(s) of Research
    Phone
    604-875-2839
    Fax
    604-875-3454
    Lab Phone
    Mailing Address
    BC Children’s Hospital and BC Women's Hospital & Health Centre

    Department of Medical Genetics
    Room C234
    4500 Oak Street
    Vancouver, BC V6H 3N1

    Affiliate Websites
    Research Areas
    • Genetics of behavioural, psychiatric and cognitive disorders
    • Phenotypic and molecular characterization of novel Mendelian malformation syndromes
    Summary

    Although much progress has been made in research into the causes of behavioral and psychiatric disorders, the genetic causes remain relatively poorly understood. This is in part due to the genetic heterogeneity, variable phenotype, and complex inheritance of these disorders.

    In order to get around this impasse, we are better characterizing families with inherited psychiatric conditions by studying and describing their physical, behavioural, and psychiatric presentation and by determining the underlying the genetic cause to their disease. By doing this, we hope to identify and better understand the biological pathways involved in behavioral and psychiatric disorders. Ultimately, this will help to identifying therapies for individuals suffering from these disorders.

    Current Projects

    Phenotypic, molecular and biochemical characterization of a novel X-linked mental retardation, congenital anomaly and behavioural disturbance syndrome
    We are investigating a five-generation XLMR family where affected boys present with dysmorphic features and behavioral problems. Carrier females have normal cognition but demonstrate aggressive behaviour. We have isolated the causative mutation in the NSDHL gene, which is part of the cholesterol biosynthesis pathway. Along with other collaborators, we are presently trying to understand this pathway and its association with this family’s disease and aggressive behaviour in general.

    Associated features and outcome of individuals with macrocephaly
    We are conducting a retrospective chart review of patients referred to Medical Genetics who were noted to have macrocephaly to determine the association of macrocephaly with overgrowth, cognitive and behavioural function and malformations.  We anticipate that this information will help guide future diagnostic protocols.

    Phenotypic, cytogenetic and molecular descriptions of unusual families
    In collaboration with other clinicians, researchers, graduate students and volunteers, I am involved in trying to delineate the disease pathway of different families seen in the Medical Genetics clinic. As the interface with the affected families, I explain the transition from clinical care to research, recruit family members to participate, coordinate research testing, act as liaison with the laboratories, communicate with the families, and participate in the clinical and phenotypic description of the condition. The projects that I am currently involved in include:

    1. The first characterization of the human phenotype associated with BRUNOL4 hemizygosity. 

    2. Characterization of a novel mutation in DCX in a female with lissencephaly whose features are more typical of an affected male.

    3. Delineation of a novel mechanism in a three generation family with an apparently balanced reciprocal translocation (14;18) and mild intellectual disabilities and dysmorphic features. Further delineation of the breakpoints has identified the first known human mutation of the estrogen receptor 2 gene.

    4. Phenotypic and genetic characterization of a child with profound pre- and postnatal growth retardation. This study has identified new disease loci at the breakpoints of a reciprocal translocation involving chromosomes 6 and 12.  

    5. Phenotypic, behavioral and molecular description of a family with a novel 19p13 duplication with large stature, severe learning difficulties, and behavioural abnormalities.

    Selected Publications

    du Souich C, Austin J, Friedlander R, Boerkoel C. A Novel Acro-Auricular Syndrome with Psychiatric Features and Review of Malformation Syndromes with Psychiatric Disorders. American Journal of Medical Genetics. Am J Med Genet A. 2009 Feb 15;149A(4):713-21.

    Athena Chou, Cornelius Boerkoel, Christèle du Souich, Rosemarie Rupps. Phenotypic and molecular characterization of a novel DCX deletion and a review of the literature. Clinical Genetics. Clin Genet. 2009 Aug 7.

    Christèle du Souich, Athena Chou, Jingyi Yin, Tracey Oh, Tanya N. Nelson, Jane Hurlburt, Laura Arbour, Robin Friedlander, Barbara McGillivray, Nataliya Tyshchenko, Andreas Rump, Kenneth J. Poskitt, Michelle Demos, Margot I. Van Allen, Cornelius F. Boerkoel. Characterization of a New X-Linked Mental Retardation Syndrome with Microcephaly, Pachygyria, and a Thin habitus.  Am J Med Genet A. 149A:2469-2478.

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