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Blood expression profiles for tuberous sclerosis complex 2, neurofibromatosis type 1, and down's syndrome
Author(s) -
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.
Publication year - 2004
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.20291
Subject(s) - tuberous sclerosis , neurofibromatosis , medicine , blood cancer , pathology , cancer
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. Ann Neurol 2004