Comprehensive phenotypic characterization of 17q12 deletion syndrome

  • Awarded: 2012
  • Award Type: Research
  • Award #: 240413

Genetic factors are thought to play a major role in the occurrence of autism. Multiple genetic abnormalities have been identified in people with autism, and genetic mutations currently explain approximately 15 percent of autism cases. David Ledbetter and his colleagues at Emory University School of Medicine in Atlanta found in 2010 that the loss (deletion) of genetic material in chromosomal region 17q12 confers a high risk for autism and schizophrenia.

This deletion is among the ten most frequent genetic abnormalities identified in children with unexplained developmental problems. Besides being linked to autism and schizophrenia, the 17q12 deletion has also been reported in people with intellectual disabilities, bipolar disorder, epilepsy and brain malformations.

To better understand the behavioral consequences of this deletion, Ledbetter and his team aim to characterize the clinical presentation of individuals with 17q12 deletion using a set of questionnaires that evaluate different aspects of behavior, coupled with a detailed medical record review. They plan to use two complementary strategies to identify people with the 17q12 deletion. In addition to searching large databases for individuals known to have the deletion, they also plan to search the Geisinger Health System electronic medical record system for people who are at risk of 17q12 deletion syndrome based on their medical and behavioral profile.

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