Novel PNKP mutations associated with reduced DNA single ‐strand break repair and severe microcephaly, seizures, and developmental delay

ConclusionThe data presented show that the detected compound heterozygous variants result in reduced levels of PNKP protein, which affect the repair of both oxidative and TOP1-induced single-strand breaks, and most likely causes MCSZ in this patient.

Source: Molecular Genetics & Genomic Medicine - November 3, 2023 Category: Genetics & Stem Cells Authors: Ann ‐Charlotte Thuresson, Jan Brazina, Talia Akram, Julia Albrecht, Niklas Dahl, Cecilia Soussi Zander, Keith W. Caldecott Tags: ORIGINAL ARTICLE Source Type: research