Diagnostic Test for Developmental Delay or Autism
Inventors: Bai-Lin Wu, Yiping Shen, David Miller, Orah Platt
Invention Types: Diagnostic/Prognostic
Research Areas: Genetic Disease, Neonatology/Pediatric, Neurology/Neuroscience
Keywords: Biomarker, Genomics, PediatricFor More Information Contact: Ives, Catherine L.
The investigators have developed a proprietary design of oligonucleotide probes for comparitive genomic hybridization to detect copy number variation in the diagnosis of genetic etiologies of developmental delay and autism spectrum disorders. Using this technology, the investigators have identified a deletion/duplication event at chromosome 16p11.2 as the most prevalent genetic abnormality underlying autism spectrum discorder, and a second deletion/duplication event at chromosome 15p13.3 underlying a syndrome of autism and other neuropsychiatirc disorders.
Diagnostic screening of developmental delay of unknown etiology.
The proprietary oligonucleotide-based microarray design has been developed for the multiplex diagnosis of copy number variation in the etiology of developmental delay or autism spectrum disorder.
Key Publications: • Weiss LA, et al. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med. 2008 Feb 14;358(7):667-75.
• Hanson E, et al. Cognitive and behavioral characterization of 16p11.2 deletion syndrome. J Dev Behav Pediatr. 2010 Oct;31(8):649-57.
• Shen Y, et al. Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family. Am J Med Genet B Neuropsychiatr Genet. 2011 Mar;156(2):225-32.
Related Publications: Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance. Shen Y, Irons M, Miller DT, Cheung SW, Lip V, Sheng X, Tomaszewicz K, Shao H, Fang H, Tang HS, Irons M, Walsh CA, Platt O, Gusella JF, Wu BL. Clin Chem. 2007 Dec;53(12):2051-9. Epub 2007 Sep 27. PMID: 17901113
Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatirc disorders. Miller DT, Shen Y, Weiss LA, Korn J, Anselm I, Bridgemohan C, Cox GF, Dickinson H, Gentile J, Harris DJ, Hegde V, Hundley R, Khwaja O, Kothare S, Luedke C, Nasir R, Poduri A, Prasad K, Raffalli P, Reinhard A, Smith SE, Sobeih M, Soul J, Stoler J, Takeoka M, Tan WH, Thakuria J, Wolff P, Yusupov R, Gusella JF, Daly MJ, Wu BL. J Med Genet. 2008 Nov 26. PMID: 18805830