ArrayExpress Uploaderarrayexpress_sidhumanfemaleWild type for TWIST2Puerto RicanfemaleWild type for TWIST2Puerto RicanfemaleWild type for TWIST2Puerto RicanfemaleWild type for TWIST2CaucasianfemaleHomozygous for the Q119X mutation in the TWIST2 genePuerto RicanfemaleHomozygous for the Q119X mutation in the TWIST2 genePuerto RicanmixedHomozygous for the Q119X mutation in the TWIST2 genePuerto RicanfemaleHomozygous for the Q65X mutation in the TWIST2 genenot specified331304Setleis Syndrome is a rare type of facial ectodermal dysplasia characterized by an aged leonine appearance with puckered skin about the...E-GEOD-16524/profile/8773/arrayexpressuploader38chinectodermal dysplasianoseskinsyndromeDec.12, 2014Falseexpression-data-from-skin-fibroblasts-derived-fromE-GEOD-16524_A-AFFY-44Expression data from skin fibroblasts derived from Setleis Syndrome patients and normal controlsSep.12, 2014Setleis 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.http://www.ebi.ac.uk/arrayexpress/experiments/E-GEOD-16524http://www.ebi.ac.uk/arrayexpress/experiments/E-GEOD-16524/samples/