Blood expression profiles for tuberous sclerosis complex 2, neurofibromatosis type 1, and Down's syndrome

Yang Tang, Mark B. Schapiro, David N. Franz, Bonnie J. Patterson, Francis J. Hickey, Elizabeth K. Schorry, Robert J. Hopkin, Matthew Wylie, Tina Narayan, Tracy A. Glauser, Donald L. Gilbert, Andrew D. Hershey, Frank R Sharp

Research output: Contribution to journalArticle

64 Scopus citations

Abstract

Blood gene expression profiling has been applied to a variety of hematological malignancies, autoimmune disorders, and infectious diseases. This study applies this approach to genetic diseases without obvious blood phenotypes. Three genetic diseases including tuberous sclerosis complex 2, neurofibromatosis type 1, and Down's syndrome were compared with a group of healthy controls. RNA from whole blood was surveyed using Affymetrix U133A arrays. Each disease was associated with a unique gene expression pattern in blood that can be accurately distinguished by a classifier. Genes on chromosome 21 were overexpressed in Down's syndrome, and genes controlling cell cycle and proliferation were associated with tuberous sclerosis complex type 2 or neurofibromatosis type 1. A subset of genes involved in cardiac development or remodeling were overexpressed in patients with Down's syndrome and congenital heart defects. These findings suggest that blood gene expression profiling on a broader basis might be useful for genetic disease screening/diagnosis and might help elucidate mechanisms and pathways that lead to genotype-phenotype differences.

Original languageEnglish (US)
Pages (from-to)808-814
Number of pages7
JournalAnnals of Neurology
Volume56
Issue number6
DOIs
StatePublished - Dec 2004

ASJC Scopus subject areas

  • Neuroscience(all)

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    Tang, Y., Schapiro, M. B., Franz, D. N., Patterson, B. J., Hickey, F. J., Schorry, E. K., Hopkin, R. J., Wylie, M., Narayan, T., Glauser, T. A., Gilbert, D. L., Hershey, A. D., & Sharp, F. R. (2004). Blood expression profiles for tuberous sclerosis complex 2, neurofibromatosis type 1, and Down's syndrome. Annals of Neurology, 56(6), 808-814. https://doi.org/10.1002/ana.20291