Protein Kinase CK2 and Dysregulated Oncogenic Inflammatory Signaling Pathways

Benveniste, Etty N.; Gray, G. Kenneth; McFarland, Braden C.

doi:10.1007/978-3-319-14544-0_15

Cited by 2 publications

(2 citation statements)

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“…CSNK2A1 encodes the α subunit of the CK2 protein, which is a serine/threonine kinase consisting of 2 catalytic subunits (either 2 α or 2 α′ or one of each) and 2 regulatory β subunits, using either GTP or ATP as a phosphate donor in the kinase reaction (MIM #115440). It is ubiquitously expressed in various tissues and has an important role in cellular growth, proliferation and apoptosis . Increased expression of CSNK2A1 has also been reported in various cancers, and frequent somatic intragenic deletions of CSNK2A1 were found in T cell leukemia .…”

Section: Discussionmentioning

confidence: 99%

“…It is ubiquitously expressed in various tissues and has an important role in cellular growth, proliferation and apoptosis . Increased expression of CSNK2A1 has also been reported in various cancers, and frequent somatic intragenic deletions of CSNK2A1 were found in T cell leukemia . CK2 also promotes development of myeloid‐derived suppressor cells, which suppresses adaptive immune response and regulate immune responses .…”

Section: Discussionmentioning

confidence: 99%

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Okur‐Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion

et al. 2018

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Okur-Chung syndrome is a neurodevelopmental condition attributed to germline CSNK2A1 pathogenic missense variants. We present 8 unreported subjects with the above syndrome, who have recognizable dysmorphism, varying degrees of developmental delay and multisystem involvement. Together with 6 previously reported cases, we present a case series of 7 female and 7 male subjects, highlighting the recognizable facial features of the syndrome (microcephaly, hypertelorism, epicanthic fold, ptosis, arched eyebrows, low set ears, ear fold abnormality, broad nasal bridge and round face) as well as frequently occurring clinical features including neurodevelopmental delay (93%), gastrointestinal (57%), musculoskeletal (57%) and immunological (43%) abnormalities. The variants reported in this study are evolutionary conserved and absent in the normal population. We observed that the CSNK2A1 gene is relatively intolerant to missense genetic changes, and most variants are within the protein kinase domain. All except 1 variant reported in this cohort are spatially located on the binding pocket of the holoenzyme. We further provide key recommendations on the management of Okur-Chung syndrome. To conclude, this is the second case series on Okur-Chung syndrome, and an in-depth review of the phenotypic features and genomic findings of the condition with suggestions on clinical management.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Okur‐Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion

et al. 2018

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De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features

Okur

Cho²,

Henderson³

et al. 2016

Hum Genet

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Whole exome sequencing (WES) can be used to efficiently identify de novo genetic variants associated with genetically heterogeneous conditions including intellectual disabilities. We have performed WES for 4102 (1847 female; 2255 male) intellectual disability/developmental delay cases and we report five patients with a neurodevelopmental disorder associated with developmental delay, intellectual disability, behavioral problems, hypotonia, speech problems, microcephaly, pachygyria and dysmorphic features in whom we have identified de novo missense and canonical splice site mutations in CSNK2A1, the gene encoding CK2α, the catalytic subunit of protein kinase CK2, a ubiquitous serine/threonine kinase composed of two regulatory (β) and two catalytic (α and/or α') subunits. Somatic mutations in CSNK2A1 have been implicated in various cancers; however, this is the first study to describe a human condition associated with germline mutations in any of the CK2 subunits.

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Protein Kinase CK2 and Dysregulated Oncogenic Inflammatory Signaling Pathways

Cited by 2 publications

References 124 publications

Okur‐Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion

Okur‐Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion

De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features

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