title: Signature MicroRNA expression patterns identified in humans with 22q11.2 deletion/DiGeorge syndrome.
abstract: Patients with 22q11.2 deletion syndrome have heterogeneous clinical presentations including immunodeficiency, cardiac anomalies, and hypocalcemia. The syndrome arises from hemizygous deletions of up to 3Mb on chromosome 22q11.2, a region that contains 60 genes and 4 microRNAs. MicroRNAs are important post-transcriptional regulators of gene expression, with mutations in several microRNAs causal to specific human diseases. We characterized the microRNA expression patterns in the peripheral blood of patients with 22q11.2 deletion syndrome (n=31) compared to normal controls (n=22). Eighteen microRNAs had a statistically significant differential expression (p<0.05), with miR-185 expressed at 0.4× normal levels. The 22q11.2 deletion syndrome cohort exhibited microRNA expression hyper-variability and group dysregulation. Selected microRNAs distinguished patients with cardiac anomalies, hypocalcemia, and/or low circulating T cell counts. In summary, microRNA profiling of chromosome 22q11.2 deletion syndrome/DiGeorge patients revealed a signature microRNA expression pattern distinct from normal controls with clinical relevance.
authors: Department of Pediatrics, The University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390-9063, USA. Electronic address: maite.delamorena@utsouthwestern.edu.
authors: M Teresa
authors: MT
authors: de la Morena
authors: Department of Immunology, The University of Texas Southwestern Medical Center, 6000 Harry Hines Boulevard, Dallas, TX 75390-9093, USA.
authors: Jennifer L
authors: JL
authors: Eitson
authors: Department of Immunology, The University of Texas Southwestern Medical Center, 6000 Harry Hines Boulevard, Dallas, TX 75390-9093, USA.
authors: Igor M
authors: IM
authors: Dozmorov
authors: Department of Immunology, The University of Texas Southwestern Medical Center, 6000 Harry Hines Boulevard, Dallas, TX 75390-9093, USA.
authors: Serkan
authors: S
authors: Belkaya
authors: Department of Immunology, The University of Texas Southwestern Medical Center, 6000 Harry Hines Boulevard, Dallas, TX 75390-9093, USA.
authors: Ashley R
authors: AR
authors: Hoover
authors: Baylor Institute for Immunology Research, Dallas, TX 75204, USA.
authors: Esperanza
authors: E
authors: Anguiano
authors: Baylor Institute for Immunology Research, Dallas, TX 75204, USA.
authors: M Virginia
authors: MV
authors: Pascual
authors: Department of Pediatrics, The University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390-9063, USA; Department of Immunology, The University of Texas Southwestern Medical Center, 6000 Harry Hines Boulevard, Dallas, TX 75390-9093, USA; Department of Microbiology, The University of Texas Southwestern Medical Center, 6000 Harry Hines Boulevard, Dallas, TX 75390-9093, USA. Electronic address: nicolai.vanoers@utsouthwestern.edu.
authors: Nicolai S C
authors: NSC
authors: van Oers
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D015331:Cohort Studies; D004062:DiGeorge Syndrome / Q000235:genetics*; D005260:Female; D020869:Gene Expression Profiling; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D006996:Hypocalcemia / Q000235:genetics; D007223:Infant; D018655:Lymphocyte Count; D008297:Male; D035683:MicroRNAs / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*; D013601:T-Lymphocytes / Q000378:metabolism
chemical_list: C552431:MIRN185 microRNA, human; D035683:MicroRNAs