Genomic profile of copy number variants on the short arm of human chromosome 8

Abstract

We evaluated 966 consecutive pediatric patients with various developmental disorders by high-resolution microarray-based comparative genomic hybridization and found 10 individuals with pathogenic copy number variants (CNVs) on the short arm of chromosome 8 (8p), representing approximately 1% of the patients analyzed. Two patients with 8p terminal deletion associated with interstitial inverted duplication (inv dup del(8p)) had different mechanisms leading to the formation of a dicentric intermediate during meiosis. Three probands carried an identical ∼5.0 Mb interstitial duplication of chromosome 8p23.1. Four possible hotspots within 8p were observed at nucleotide coordinates of ∼10.45, 24.32–24.82, 32.19–32.77, and 38.94–39.72 Mb involving the formation of recurrent genomic rearrangements. Other CNVs with deletion- or duplication-specific start or stop coordinates on the 8p provide useful information for exploring the basic mechanisms of complex structural rearrangements in the human genome.

Citation

Yu S, Fiedler S, Stegner A, Graf WD (2010) Genomic profile of copy number variants on the short arm of human chromosome 8. Eur J Hum Genet 18:1114–1120

The Project 8p Foundation (Project 8p) was created in 2018 to:

  • Accelerate future treatments, not only for 8p, but potentially for other chromosome-wide diseases as well.
  • Lead with knowledge from patients. Currently, there is no cure for 8p disorders, nor is there a standard course of treatment.

The Project 8p Foundation (Project 8p) was created in 2018 to:

  • Raise transformative funding for pioneering scientific research into treatments for a complex, rare disease involving 250+ affected genes on the short arm of the 8 th chromosome (8p). Rearrangements of these genes causes significant abnormalities to the entire neurological system, thus all organs and functions of the body– with variance in cognitive functions, gross motor skills, social development and other challenges during infancy, and throughout life;
  • Empower a unified community of 8p patients and their families so they can have meaningful lives today; and
  • Accelerate future treatments, not only for 8p, but potentially for other chromosome-wide diseases as well.