Article
Mutations of the DNA repair gene PNKP in a patient with microcephaly, seizures, and developmental delay (MCSZ) presenting with a high-grade brain tumor.
Scientific reports - 30 Mar 2022
Jiang Bingcheng, Murray Cameron, Cole Bonnie L, Glover J N Mark, Chan Gordon K, Deschenes Jean, Mani Rajam S, Subedi Sudip, Nerva John D, Wang Anthony C, Lockwood Christina M, Mefford Heather C, Leary Sarah E S, Ojemann Jeffery G, Weinfeld Michael, Ene Chibawanye I
Abstract excerpt
Polynucleotide Kinase-Phosphatase (PNKP) is a bifunctional enzyme that possesses both DNA 3'-phosphatase and DNA 5'-kinase activities, which are required for processing termini of single- and double-strand breaks generated by reactive oxygen species (ROS), ionizing radiation and topoisomerase I poisons. Even though PNKP is central to DNA repair, there have been no reports linking PNKP mutations in a Microcephaly,...
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