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Bohring−Opitz Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
BOS appears to be distinct from C syndrome (a phenotypically similar disorder caused by heterozygous mutation in the CD96 gene on chromosome 3q13), Shashi–Pena syndrome (due to Asxl2 gene mutation on chromosome 2p23.3; with the presence of macrocephaly and episodic hypoglycemia), and Bainbridge–Ropers syndrome (due to de novo heterozygous nonsense and frameshift mutations mutation in the ASXL3 gene on chromosome 18q12.1) [5]. While Bainbridge–Ropers syndrome shows severe psychomotor retardation, feeding problems, severe postnatal growth retardation, arched eyebrows, anteverted nares, and ulnar deviation of the hands as well as anteverted nares), it differs from BOS by having no “BOS posture” of elbow and wrist flexion, myopia or trigonocephaly (Figure 27.1 and Table 27.1) [6].
Disease Prediction and Drug Development
Published in Arvind Kumar Bansal, Javed Iqbal Khan, S. Kaisar Alam, Introduction to Computational Health Informatics, 2019
Arvind Kumar Bansal, Javed Iqbal Khan, S. Kaisar Alam
Prostate cancer is the second most common cancer in men worldwide. It varies based on geographic region and ethnicity. The most contributing factors are: age, family history and ethnicity. Linkage analysis identified 8q24 as a significant prostate cancer risk region. Based upon GWAS analysis, 63 novel precursors and chromosomal loci are identified. These precursors come from various long and short arms of 20 chromosomes: one-to-twelve, fourteen-twenty and twenty-three. A membrane protein called CD96 interacts with cancer associated miRNA. Other suspected genes are MSMB (micro-semino-protein-beta protein) gene, LMTK2 (serine/threonine-protein-kinase enzyme) gene and KLK3 (prostrate-specific antigen precursor protein) gene.
C syndrome - what do we know and what could the future hold?
Published in Expert Opinion on Orphan Drugs, 2019
Roser Urreizti, Daniel Grinberg, Susanna Balcells
The first gene associated with OCS was CD96 (in chromosome 3q) [29], found truncated in a patient diagnosed as OCS who bore a balanced translocation t(3;18)(q13.13;q12.1). These authors also identified a missense mutation in CD96 in a patient diagnosed as BOS and demonstrated loss of adhesion and growth activities in vitro in cells with mutated CD96. While this gene plays a crucial role in inhibiting NK cells, in immune regulation and in surveillance [48], its role in OCS has been questioned. Firstly, Darlow et al [49] identified a t(2;3) balanced translocation disrupting CD96 in patients who developed renal cell carcinoma without any symptoms of OCS. Secondly, in a study involving 10 OCS patients, no mutations in CD96 could be identified [32]. Finally, the Cd96−/− mice do not present any neurodevelopmental phenotype and are, mainly, phenotypically normal [50]. While the CD96 deficiency could be playing some role in the presentation of the patient described by Kaname et al. it doesn’t seem to be responsible for the disease. Interestingly, the ASXL3 gene maps close to Kaname’s patient break point at 18q12.1, and thus, could be the real cause of the disease in this patient.
Advances in therapeutic targeting of immune checkpoints receptors within the CD96-TIGIT axis: clinical implications and future perspectives
Published in Expert Review of Clinical Immunology, 2022
Pooya Farhangnia, Mahzad Akbarpour, Mahboubeh Yazdanifar, Amir Reza Aref, Ali-Akbar Delbandi, Nima Rezaei
CD96 plays a role in cell–cell adhesion. Cell–cell adhesion is determined by the interaction of CD96 and CD155 in NK cell lines [19] and CD4+ and CD8+ T cells that express CD96 endogenously [60]. Using an anti-CD96 mAb, which suppresses CD155–CD96 interaction, Manes et al. [69] found that trans-endothelial migration but not chemokine-mediated transmigration has been inhibited in human effector memory CD4+ T cells.
Emerging immune checkpoint inhibitors for the treatment of non-small cell lung cancer
Published in Expert Opinion on Emerging Drugs, 2022
Helena Bote, Andrés Mesas, Javier Baena, Mercedes Herrera, Luis Paz-Ares
CD96 is a type I transmembrane glycoprotein of the Ig superfamily which is expressed on NK and T cells and interacts with PVR. While CD96 blocks the cytotoxic activity of NK cells in mouse models, the human CD96 form may function as an activating or inhibiting receptor depending on the cell type and environmental conditions [80], thus making more studies necessary to demonstrate the role of CD96 in the regulation of antitumor immunity.