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Article

Mutations in PNKP cause microcephaly, seizures and defects in DNA repair.

Nature genetics - 1 Mar 2010

Shen Jun, Gilmore Edward C, Marshall Christine A, Haddadin Mary, Reynolds John J, Eyaid Wafaa, Bodell Adria, Barry Brenda, Gleason Danielle, Allen Kathryn, Ganesh Vijay S, Chang Bernard S, Grix Arthur, Hill R Sean, Topcu Meral, Caldecott Keith W, Barkovich A James, Walsh Christopher A

Abstract excerpt

Maintenance of DNA integrity is crucial for all cell types, but neurons are particularly sensitive to mutations in DNA repair genes, which lead to both abnormal development and neurodegeneration. We describe a previously unknown autosomal recessive disease characterized by microcephaly, early-ons...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 20118933
DOI: 10.1038/ng.526
PMCID: PMC2835984

Genes

PNKP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20118933-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Mutations in PNKP cause microcephaly, seizures and defects in DNA repair.PMID 20118933Read ↗

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

Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZSemantic proximity Read ↗

Polynucleotide kinase-phosphatase (PNKP) mutations and neurologic disease.Semantic proximity Read ↗

Mutations of the DNA repair gene PNKP in a patient with microcephaly, seizures, and developmental delay (MCSZ) presenting with a high-grade brain tumor.Semantic proximity Read ↗

Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations.Semantic proximity Read ↗

Characterization of Two Novel PNKP Splice-Site Variants in a Proband With Microcephaly, Intellectual Disability, and Multiple Malformations.Semantic proximity Read ↗

Pathological mutations in PNKP trigger defects in DNA single-strand break repair but not DNA double-strand break repair.Semantic proximity Read ↗

Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair.Semantic proximity Read ↗

Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss.Semantic proximity Read ↗

Compound Heterozygous Mutations in PNKP Gene in an Iranian Child with Microcephaly, Seizures, and Developmental Delay.Semantic proximity Read ↗

Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation.Semantic proximity Read ↗

Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4.Semantic proximity Read ↗

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