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E-GEOD-16524 - Expression data from skin fibroblasts derived from Setleis Syndrome patients and normal controls

Status
Released on 11 June 2009
Organism
Homo sapiens
Samples (8)
Array (1)
Protocols (7)
Description
Setleis Syndrome is a rare type of facial ectodermal dysplasia characterized by an aged leonine appearance with puckered skin about the eyes, absent eyelashes on both lids or multiple rows on the upper lids and none on the lower lids, eyebrows that slant sharply upward laterally, and a rubbery feel of the nose and chin. Some of the patients showed bilateral temporal marks superficially like forceps marks and like the lesions seen in focal facial dermal dysplasia. We have evidence that Setleis Syndrome is caused by nonsense mutations in the gene coding for the small bHLH transcription factor known as TWIST2 in Puerto Rican and Omani patients. We performed expression microarray analysis of RNA samples derived from skin fibroblasts grown from skin biopsies of Setleis Syndrome patients and normal controls in order to identify genes potentially involved in facial development and the pathogenesis of Setleis Syndrome. A total of 4 control and 4 Setleis Syndrome RNA samples were hybridized to U133 plus 2 Affymetrix 3'IVT arrays in the Mount Sinai School of Medicine Microarray Core Facility.
Experiment type
transcription profiling by array 
Contacts
Carmen Lydia Cadilla <carmen.cadilla@upr.edu>, Carmen L Cadilla, Robert J Desnick
MIAME
PlatformsProtocolsVariablesProcessedRaw
Files
Investigation descriptionE-GEOD-16524.idf.txt
Sample and data relationshipE-GEOD-16524.sdrf.txt
Raw data (1)E-GEOD-16524.raw.1.zip
Processed data (1)E-GEOD-16524.processed.1.zip
Array designA-AFFY-44.adf.txt
R ExpressionSetE-GEOD-16524.eSet.r
Links