Abstract for presentation at 11th International Congress of Human Genetics

Tiling resolution array-CGH for the identification of gene dose imbalances in patients with autism spectrum disorders

  • Jacqueline Schoumans, Department of Molecular Medicine, Karolinska Hospital, CMM L8:02, Stockholm, Sweden
  • Åsa Selander, Department of Molecular Medicine, Karolinska Hospital, CMM L8:02, Stockholm, Sweden
  • Johan Staaf, Department of Oncology, University Hospital, Lund, Sweden
  • Mai Britt Giacobini, Department of Molecular Medicine, Karolinska Hospital, CMM L8:02, Stockholm, Sweden
  • Ann Nordgren, Department of Molecular Medicine, Karolinska Hospital, CMM L8:02, Stockholm, Sweden
  • Åke Borg, Department of Oncology, University Hospital, Lund, Sweden
  • Britt Marie Anderlid, Department of Molecular Medicine, Karolinska Hospital, CMM L8:02, Stockholm, Sweden
  • Magnus Nordenskjöld, Department of Molecular Medicine, Karolinska Hospital, CMM L8:02, Stockholm, Sweden

    • Autism is a highly heritable and heterogenous group of behavioral disorders with a complex genetic etiology for which no disease genes have yet been definitively identified. It is characterized by impairments in social interaction and communication, as well as restricted, repetitive, stereotyped patterns of behavior. The prevalence of ASD might be as high as 0.5 % of the general population although in most of the cases the cause remains unknown despite extensive clinical and laboratory investigations. Several chromosome abnormalities, among them maternally derived duplications/triplications of chromosome 15q11-13 and other cryptic rearrangements, have been reported in patients with ASD. However, cryptic chromosome abnormalities are not detectable by standard techniques used in a diagnostic setting. Screening using tiling resolution array-based comparative genomic hybridization (array-CGH) makes it possible to detect cryptic chromosome abnormalities that have escaped detection by conventional karyotyping.
    The detection of gene dose imbalances in patients with ASD can help us identify candidate genes involved in cognitive development to give a better understanding of the genetic mechanisms underlying ASD and related neurodevelopmental disorders.
    Using an array containing 33000 BAC clones we have initiated the screening of a cohort of 50 patients with ASD consisting of 25 patients with syndromic ASD (in addition to ASD these patients have dysmorphic features or malformations) and 25 patient with “pure” ASD. All abnormalities detected are confirmed by FISH or MLPA and investigated for hereditability. The results of this ongoing study will be presented and discussed.

    Conference Organiser - ICMS Pty Ltd