Loss of Corneal Raver2 Expression in Aniridia Associated Keratopathy

PurposeThe aim of this study was to evaluate downstream factors of Pax6 associated with the aniridic corneal phenotype. We characterize the ocular expression of Raver2, a novel heterogeneous ribonucleoprotein (hnRNP).MethodsGenome wide microarrays of corneal RNA from non-aniridic mice (C57BL/6J and MRL/MpJ) and corneas from aniridia model, Pax6+/- (SEY) mice were performed. Raver2 expression profiles were validated using qPCR and western blot. Raver2 immunohistochemistry on corneas of Pax6+/- mice and aniridic humans were compared to control specimens, and insitu-hybridization was used to analyze developmental expression of Raver2.ResultsMicroarray analysis of corneal RNA identified Raver2 as the gene with the strongest differential expression profile across non-aniridic and aniridic mouse strains. Consistent with mouse data, we found that Raver2 is expressed at high levels in healthy human corneal epithelium, and is downregulated in the corneas of human aniridia patients.ConclusionsThese findings suggest that Raver2 has an evolutionarily conserved developmental role downstream of Pax6 in corneal development and maintenance.

Fetal Triploidy Syndrome: a case report from Global Reference Laboratory, Mumbai, India

Triploidy is a complete extra set of chromosomes. In the current case report, we present the case of a 29-year-old pregnant female who was referred to Department of Genetics, Metropolis Healthcare Ltd, Mumbai. Real-time sonography of the gravid uterus was done using a 3C RS multi-frequency probe. Placenta was observed to be posterior. The findings were suggestive of a single viable foetus with an average gestational age of 14.6 weeks at 14-15 weeks of pregnancy and only mild placental thickening at 17-18 weeks of pregnancy was detected on Ultrasound at the time of Amniocentesis. The fetal chromosomal study on amniotic fluid by Fluoroscence insitu hybridization (FISH) revealed trisomy status for chromosome 13, 18, 21, X and Y in 100% of the cells analysed and the fetal karyotype revealed a presence of extra set of chromosomes (69) in all the analysed cells. Parental blood karyotype was done for checking cytogenetic abnormality or variations. FISH studies with POC specimen revealed Trisomy status for chromosomes 13, 18, 21 and presence of extra Sex chromosome (XXY) in all cells analysed.

Role of CYP2C9, VKORC1 and Calumenin Genotypes in Monitoring Warfarin Therapy: An Egyptian Study

Background: Oral anticoagulant therapy is conditioned by environmental and genetic factors.Objectives: To verify the effect of the calumenin, cytochrome P-450 variants and VKORC1 genetic polymorphisms on the response to warfarin therapy and warfarin dose adjustment.Patients and Methods: We selected fifty warfarin treated patients with dose adjusted at INR value between 2 and 3. PCR-RFLP is used for of calumenin gene polymorphism. Insitu Hybridization was used for identification of VKORC1 promoter and CYP2C9 variants polymorphisms.Results: The warfarin dose in the patients with Calumenin and CYP2C9 genetic polymorphism was lower than the wild type gene. The warfarin dose in the patients with VKORC1 variants was statistically lower compared to that of the wild-type. The presence of combined CYP2C9 genetic variants and VKORC1 polymorphism was associated with lower warfarin dose than that the wild types.Conclusion: Calumenin (CALU) might be a new genetic factor involved in the pharmacogenetics of anticoagulant therapy.