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Article

Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain.

European journal of human genetics : EJHG - 1 Jan 2022

Neuser Sonja, Krey Ilona, Schwan Annemarie, Abou Jamra Rami, Bartolomaeus Tobias, Döring Jan, Syrbe Steffen, Plassmann Margit, Rohde Stefan, Roth Christian, Rehder Helga, Radtke Maximilian, Le Duc Diana, Schubert Susanna, Bermúdez-Guzmán Luis, Leal Alejandro, Schoner Katharina, Popp Bernt

Abstract excerpt

Biallelic PNKP variants cause heterogeneous disorders ranging from neurodevelopmental disorder with microcephaly/seizures to adult-onset Charcot-Marie-Tooth disease. To date, only postnatal descriptions exist. We present the first prenatal diagnosis of PNKP-related primary microcephaly. Pathological examination of a male fetus in the 18th gestational week revealed micrencephaly with extracerebral malformations...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34697416
DOI: 10.1038/s41431-021-00982-y
PMCID: PMC8738728

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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