title: Enrichment of small pathogenic deletions at chromosome 9p24.3 and 9q34.3 involvingDOCK8, KANK1, EHMT1genes identified by using high-resolution oligonucleotide-single nucleotide polymorphism array analysis.
abstract: BACKGROUND
  High-resolution oligo-SNP array allowed the identification of extremely small pathogenic deletions at numerous clinically relevant regions. In our clinical practice, we found that small pathogenic deletions were frequently encountered at chromosome 9p and 9q terminal regions.
  
  
  RESULTS
  A review of 531 cases with reportable copy number changes on chromosome 9 revealed142 pathogenic copy number variants (CNVs): 104 losses, 31 gains, 7 complex chromosomal rearrangements. Of 104 pathogenic losses, 57 were less than 1 Mb in size, enriched at 9p24.3 and 9q34.3 regions, involving theDOCK8, KANK1, EHMT1genes. The remaining 47 cases were due to interstitial or terminal deletions larger than 1 Mb or unbalanced translocations. The small pathogenic deletions ofDOCK8, KANK1andEHMT1genes were more prevalent than small pathogenic deletions ofNRXN1, DMD, SHANK3genes and were only second to the 16p11.2 deletion syndrome, 593-kb (OMIM #611913).
  
  
  CONCLUSIONS
  This study corroborated comprehensive genotype-phenotype large scale studies at 9p24.3 and 9q24.3 regions for a better understanding of the pathogenicity caused by haploinsufficiency of theDOCK8, KANK1andEHMT1genes.
  
  
  BACKGROUND
  None; it is not a clinical trial, and the cases were retrospectively collected and analyzed.
authors.affiliation: Cytogenetics Laboratory, Quest Diagnostics Nichols Institute, 33608 Ortega Highway, San Juan Capistrano, CA 92690 USA.
authors.forename: Jia-Chi
authors.identifier: 0000-0002-1095-1091
authors.initials: JC
authors.lastname: Wang
authors.affiliation: Cytogenetics Laboratory, Quest Diagnostics Nichols Institute, 33608 Ortega Highway, San Juan Capistrano, CA 92690 USA.
authors.forename: Loretta W
authors.initials: LW
authors.lastname: Mahon
authors.affiliation: Cytogenetics Laboratory, Quest Diagnostics Nichols Institute, 33608 Ortega Highway, San Juan Capistrano, CA 92690 USA.
authors.forename: Leslie P
authors.initials: LP
authors.lastname: Ross
authors.affiliation: Cytogenetics Laboratory, Quest Diagnostics Nichols Institute, 33608 Ortega Highway, San Juan Capistrano, CA 92690 USA.
authors.forename: Arturo
authors.initials: A
authors.lastname: Anguiano
authors.affiliation: Cytogenetics Laboratory, Quest Diagnostics Nichols Institute, 33608 Ortega Highway, San Juan Capistrano, CA 92690 USA.
authors.forename: Renius
authors.initials: R
authors.lastname: Owen
authors.affiliation: Cytogenetics Laboratory, Quest Diagnostics Nichols Institute, 33608 Ortega Highway, San Juan Capistrano, CA 92690 USA.
authors.forename: Fatih Z
authors.initials: FZ
authors.lastname: Boyar
keywords: Haploinsufficiency; High resolution oligonucleotide-single nucleotide polymorphism array analysis; Homozygous deletions; Small pathogenic deletions