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 Citations (Scopus)

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

Fingerprint

Neurofibromatoses
Tuberous Sclerosis
Neurofibromatosis 1
Down Syndrome
Inborn Genetic Diseases
Gene Expression Profiling
Neurofibromatosis 2
Genes
Phenotype
Chromosomes, Human, Pair 21
Congenital Heart Defects
Genetic Testing
Hematologic Neoplasms
Autoimmune Diseases
Communicable Diseases
Genotype
Cell Proliferation
Tuberous Sclerosis 2
RNA
Gene Expression

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Tang, Y., Schapiro, M. B., Franz, D. N., Patterson, B. J., Hickey, F. J., Schorry, E. K., ... 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

Blood expression profiles for tuberous sclerosis complex 2, neurofibromatosis type 1, and Down's syndrome. / Tang, Yang; Schapiro, Mark B.; Franz, David N.; Patterson, Bonnie J.; Hickey, Francis J.; Schorry, Elizabeth K.; Hopkin, Robert J.; Wylie, Matthew; Narayan, Tina; Glauser, Tracy A.; Gilbert, Donald L.; Hershey, Andrew D.; Sharp, Frank R.

In: Annals of Neurology, Vol. 56, No. 6, 12.2004, p. 808-814.

Research output: Contribution to journalArticle

Tang, Y, Schapiro, MB, Franz, DN, Patterson, BJ, Hickey, FJ, Schorry, EK, Hopkin, RJ, Wylie, M, Narayan, T, Glauser, TA, Gilbert, DL, Hershey, AD & Sharp, FR 2004, 'Blood expression profiles for tuberous sclerosis complex 2, neurofibromatosis type 1, and Down's syndrome', Annals of Neurology, vol. 56, no. 6, pp. 808-814. https://doi.org/10.1002/ana.20291
Tang, Yang ; Schapiro, Mark B. ; Franz, David N. ; Patterson, Bonnie J. ; Hickey, Francis J. ; Schorry, Elizabeth K. ; Hopkin, Robert J. ; Wylie, Matthew ; Narayan, Tina ; Glauser, Tracy A. ; Gilbert, Donald L. ; Hershey, Andrew D. ; Sharp, Frank R. / Blood expression profiles for tuberous sclerosis complex 2, neurofibromatosis type 1, and Down's syndrome. In: Annals of Neurology. 2004 ; Vol. 56, No. 6. pp. 808-814.
@article{9794e8ae24ed4b1db04d0e5c38fb44b0,
title = "Blood expression profiles for tuberous sclerosis complex 2, neurofibromatosis type 1, and Down's syndrome",
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.",
author = "Yang Tang and Schapiro, {Mark B.} and Franz, {David N.} and Patterson, {Bonnie J.} and Hickey, {Francis J.} and Schorry, {Elizabeth K.} and Hopkin, {Robert J.} and Matthew Wylie and Tina Narayan and Glauser, {Tracy A.} and Gilbert, {Donald L.} and Hershey, {Andrew D.} and Sharp, {Frank R}",
year = "2004",
month = "12",
doi = "10.1002/ana.20291",
language = "English (US)",
volume = "56",
pages = "808--814",
journal = "Annals of Neurology",
issn = "0364-5134",
publisher = "John Wiley and Sons Inc.",
number = "6",

}

TY - JOUR

T1 - Blood expression profiles for tuberous sclerosis complex 2, neurofibromatosis type 1, and Down's syndrome

AU - Tang, Yang

AU - Schapiro, Mark B.

AU - Franz, David N.

AU - Patterson, Bonnie J.

AU - Hickey, Francis J.

AU - Schorry, Elizabeth K.

AU - Hopkin, Robert J.

AU - Wylie, Matthew

AU - Narayan, Tina

AU - Glauser, Tracy A.

AU - Gilbert, Donald L.

AU - Hershey, Andrew D.

AU - Sharp, Frank R

PY - 2004/12

Y1 - 2004/12

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=9644289581&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=9644289581&partnerID=8YFLogxK

U2 - 10.1002/ana.20291

DO - 10.1002/ana.20291

M3 - Article

C2 - 15562430

AN - SCOPUS:9644289581

VL - 56

SP - 808

EP - 814

JO - Annals of Neurology

JF - Annals of Neurology

SN - 0364-5134

IS - 6

ER -