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Article

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

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Mar 2025

Sorrentino Ugo, Baschiera Elisa, Desbats Maria Andrea, Zuffardi Orsetta, Salviati Leonardo, Cassina Matteo

Abstract excerpt

Polynucleotide kinase phosphatase (PNKP), encoded by the PNKP gene, is a DNA processing enzyme involved in double-strand break and single-strand break repair pathways, which are essential for genome stability and for the correct development and maintenance of human nervous system. PNKP biallelic loss-of-function variants have been associated with a broad spectrum of neurological anomalies, ranging from congenital...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39417375
DOI: 10.1002/ajmg.b.33013

Genes

PNKP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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Characterization of Two Novel PNKP Splice-Site Variants in a Proband With Microcephaly, Intellectual Disability, and Multiple Malformations.PMID 39417375Read ↗

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