Skip to main content

Overall clinical impairment associated with rare copy number variants (CNVs) associated with neurodevelopmental disorders

Monday, September 22, 2014 — Poster Session II

4:00 p.m. – 6:00 p.m.

FAES Academic Center



* FARE Award Winner


  • LA Friedman
  • LI Kasoff
  • K Ahn
  • JL Rapoport


Overall clinical risk associated with rare neurodevelopmental disorder associated CNVs remains unknown and may be higher than realized due to as yet undiscovered pleiotropy. The goal of this study was to assess an overall burden of risk for very early-onset neuropsychiatric and possibly other pediatric disorders. At the CHOP, over 100,0000 DNA samples are available from individuals aged 0-21 years, for whom DNA is banked in their bio-repository from 16 pediatric clinics/hospital. This population was assessed for five CNV regions: 2p16.3(NRXN1), 22q11, 15q13, 16p11, and 2p25.3(PDNX/MYT1L) using Taqman PCR assay. These are of particular interest to us, as they were over-represented in the COS studies compared to AOS. Each individual with an identified CNV was compared to three matched controls without CNVs in the examined regions. For the initial 20,000 pediatric subjects screened, 16p11 del carriers had more congenital defects problems than did controls (p=0.03). 16p11 duplication increased prevalence of endocrine and metabolic disease (p=0042). Finally, carriers with NRXN1 deletion tended to have various disease of the nervous system more than non-carriers (p=0.058). In conclusion, the overall clinical risk for carrying a CNV appears to be quite broad, and these findings would provide a better estimate for genetic counseling.

back to top