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Article

A Novel Intronic Variant in the KH3 Domain of HNRNPK Leads to a Mild Form of Au-Kline Syndrome.

Clinical genetics - 1 Nov 2025

Mingoia Maura, Meloni Alessandra, Sedda Silvia, Choufani Sanaa, Asunis Isadora, Gemma Giorgia, Ammendola Antonio, Torabi-Marashi Arteen, di Venere Eleonora, Squeo Gabriella Maria, Rallo Vincenzo, Marini Maria Giuseppina, Moi Paolo, Savasta Salvatore, Weksberg Rosanna, Merla Giuseppe, Angius Andrea

Abstract excerpt

Despite the massive adoption of sequencing technologies, disease-specific diagnosis remains challenging, particularly for genes with highly homologous pseudogenes like HNRNPK. Pathogenic HNRNPK variants cause Au-Kline syndrome (AKS), a neurodevelopmental disorder with malformations and distinctive facial features. We validated a novel de novo HNRNPK intronic variant (c.1192-3 C>A, p.Leu398ValfsTer21) in a patient...

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Identifiers

PMID: 40304117
DOI: 10.1111/cge.14763
PMCID: PMC12501752

Genes

HNRNPK

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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A Novel Intronic Variant in the KH3 Domain of HNRNPK Leads to a Mild Form of Au-Kline Syndrome.PMID 40304117Read ↗

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