"Cat eye syndrome"

Clinical and molecular cytogenetic findings of cat eye syndrome and a 2-year-old patient with congenital aural atresia and hearing loss. Cat eye syndrome (CES) is a rare congenital disease frequently caused by a partial tetrasomy of the proximal long (q) arm of chromosome 22, due to a small supernumerary marker chromosome (sSMC). CES patients show remarkable phenotypic variability. Despite

Congenital diaphragmatic hernia in a case of Cat eye syndrome Our findings extend the phenotypic spectrum of Cat eye syndrome, a disorder with wide clinical variability. The potentially life-threatening complications of congenital diaphragmatic hernia should be considered in genetic counseling and prenatal diagnostic.

Comparative proteomic analysis of cat eye syndrome critical region protein 1- function in tumor-associated macrophages and immune response regulation of glial tumors Tumor associated macrophages (TAMs) promote tumor development, angiogenesis and distal metastasis. In previous studies, we showed that Cat Eye Syndrome Critical Region Protein 1 (CECR1) is expressed by M2-like TAMs in human glioma

GNE-886: A Potent and Selective Inhibitor of the Cat Eye Syndrome Chromosome Region Candidate 2 Bromodomain (CECR2) The biological function of bromodomains, epigenetic readers of acetylated lysine residues, remains largely unknown. Herein we report our efforts to discover a potent and selective inhibitor of the bromodomain of cat eye syndrome chromosome region candidate 2 (CECR2). Screening

Severe Psychomotor Delay in a Severe Presentation of Cat-Eye Syndrome Cat-eye syndrome is a rare genetic syndrome of chromosomal origin. Individuals with cat-eye syndrome are characterized by the presence of preauricular pits and/or tags, anal atresia, and iris coloboma. Many reported cases also presented with variable congenital anomalies and intellectual disability. Most patients diagnosed with CES carry a small supernumerary bisatellited marker chromosome, resulting in partial tetrasomy of 22p-22q11.21. There are two types of small supernumerary marker chromosome, depending on the breakpoint site. In a very small proportion of cases, other cytogenetic anomalies are reportedly associated with the cat-eye syndrome phenotype. Here, we report a patient with cat-eye syndrome caused by a type 1

A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family. Cat eye syndrome (CES) is caused by a gain of the proximal part of chromosome 22. Usually, a supernumerary marker chromosome is present, containing two extra copies of the chromosome 22q11.1q11.21 region. More sporadically, the gain is present

A de novo sSMC(22) Characterized by High-Resolution Arrays in a Girl with Cat-Eye Syndrome without Coloboma Cat-eye syndrome (CES) results from trisomy or tetrasomy of proximal 22q originated by a small supernumerary marker chromosome (sSMC). Two critical regions for the major clinical features of CES (CESCRs) have been suggested; however, CES clinical presentation often does not correlate

a concurrent cardiac anomaly (A: n=23 (62%), B: n=10 (27%), C: n=4 (11%)). Infants with biliary atresia splenic malformation (BASM) or cat-eye syndrome (CES) contributed over half of the cases (21/37; 57%).Overall, 20 (54%) infants cleared jaundice (vs 50/77 (65%) controls; p=0.2), but with higher mortality compared with the non-cardiac controls (15/37 (40%) vs 3/77 (4%); HR 15.5 (95% CI 5.5 to 43.4); p

anemia.Asplenia was identified in 4 family members with autoimmune polyendocrine syndrome type-1. Horseshoe adrenal glands have also been associated with Asplenia syndrome. A patient was reported with Cat eye syndrome with anatomical asplenia.Vascular disturbances, including failure of the splenic artery to reach the developing spleen, may be a possible explanation for isolated asplenia. Familial situs situs abnormalities to human chromosome Xq24-q27.1. Nat Genet. 1993 Dec. 5(4):403-7. [QxMD MEDLINE Link]. 11. Chellapandian D, Schneider A. Anatomical asplenia in cat eye syndrome: an expansion of the disease spectrum. Case Rep Pediatr. 2013. 2013:218124. [QxMD MEDLINE Link]. [Full Text]. 12. Committee on Infectious Diseases American Academy of Pediatrics. Red Book: 2006 Report

, anal atresia, tracheoesophageal fistula with esophageal atresia, and renal and radial anomalies); CHARGE syndrome (coloboma, heart disease, atresia choanae, retarded growth and retarded development and/or central nervous system [CNS] anomalies, genital hypoplasia, and ear anomalies and/or deafness); Alagille syndrome; cat's eye syndrome; Cornelia de Lange syndrome; Klippel-Feil syndrome; and trisomy

B, Oktay A, Ozkan M. A case of neonatal arterial thrombosis mimicking interrupted aortic arch. Turk Pediatri Ars. 2015 Jun. 50 (2):118-22. [QxMD MEDLINE Link]. 49. Belangero SI, Bellucco FT, Cernach MC, et al. Interrupted aortic arch type B in A patient with cat eye syndrome. Arq Bras Cardiol. 2009 May. 92(5):e29-31, e56-8. [QxMD MEDLINE Link]. [Full Text]. 50. Apfel HD

syndromes have a particular inheritance pattern (eg, AD for Waardenburg syndrome and Gernet syndrome, AR for Jervell Lange-Nielson syndrome and Winter syndrome, X-linked for Alport syndrome and Rosenberg syndrome). Others are sporadic (eg, cat-eye syndrome, Turner syndrome, Klinefelter syndrome).Physical findings usually help indicate the presence of a particular syndrome; however, children with some

genetic approaches apart from banding cytogenetics. Inclusion of more facial pictures of patient with sSMC, like isochromosome-18p-, cat-eye-syndrome or others may contribute to higher detection rates in future.

protein Cat Eye Syndrome Critical Region Protein 1 (CECR1) is highly expressed by M2-like macrophages in GBM where it defines macrophage M2 polarization and contributes to tumor expansion. In this study, the effect of CECR1 in macrophages on tumor angiogenesis was investigated. Immunohistochemical evaluation of GBM tissue samples showed that the expression of CECR1 correlates with microvascular density

Activation of CECR1 in M2-like TAMs promotes paracrine stimulation-mediated glial tumor progression The majority of glioma-associated microglia/macrophages have been identified as M2-type macrophages with immune suppressive and tumor supportive action. Recently, the extracellular adenosine deaminase protein Cat Eye Syndrome Critical Region Protein 1 (CECR1) was shown to regulate macrophage

morpholino-mediated knockdowns in zebrafish and short hairpin RNA knockdowns in U937 cells cultured with human dermal endothelial cells. All nine patients carried recessively inherited mutations in CECR1 (cat eye syndrome chromosome region, candidate 1), encoding adenosine deaminase 2 (ADA2), that were predicted to be deleterious; these mutations were rare or absent in healthy controls. Six patients were

of paternal origin). Interestingly, one female with classic bladder extrophy carried a 1.18 Mb duplication of 22q11.1, a chromosomal region that is associated with cat eye syndrome. A number of rare CNVs were identified in BEEC patients, and these represent candidates for further evaluation. Rare inherited CNVs may constitute modifiers of, or contributors to, multifactorial BEEC phenotypes.

Monogenic polyarteritis: the lesson of ADA2 deficiency. The deficiency of Adenosine Deaminase 2 (DADA2) is a new autoinflammatory disease characterised by an early onset vasculopathy with livedoid skin rash associated with systemic manifestations, CNS involvement and mild immunodeficiency.This condition is secondary to autosomal recessive mutations of CECR1 (Cat Eye Syndrome Chromosome Region 1

colony-stimulating factor (M-CSF). The MDMs were stimulated with early secretory antigenic target protein 6 (ESAT6) and culture filtrate protein 10 (CFP10). The mRNA expression levels for the cat eye syndrome chromosome region, candidate 1 () gene encoding ADA2 were then measured. CECR1 mRNA expression levels were significantly higher in MDMs stimulated with ESAT6 and CFP10, than in the unstimulated

22q11.2 deletion (seven cases), the deletion of 22q11 cat eye syndrome (CES) region (one case), 22q11.2 duplication (one case), 22q13.3 deletion (one case) and 17p13.3 deletion (one case). In total, our findings from MLPA screening represented 4.9 % in our cohort. Among these, three cases were inherited CNVs, and eight cases were de novo. These CNVs were further verified by single nucleotide