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Article

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

Molecular genetics & genomic medicine - 1 Jan 2024

Thuresson Ann-Charlotte, Brazina Jan, Akram Talia, Albrecht Julia, Dahl Niklas, Soussi Zander Cecilia, Caldecott Keith W

Abstract excerpt

BACKGROUND: Microcephaly with early-onset seizures (MCSZ) is a neurodevelopmental disorder caused by pathogenic variants in the DNA strand break repair protein, polynucleotide kinase 3'-phosphatase (PNKP). METHODS: We have used whole genome sequencing and Sanger sequencing to identify disease-causing variants, followed by a minigene assay, Western blotting, alkaline comet assay, γH2AX, and ADP-ribose...

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Identifiers

PMID: 37916443
DOI: 10.1002/mgg3.2295
PMCID: PMC10767416

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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