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Article

HYPK-Related Neurodevelopmental Syndrome: Case Report of Intellectual Disability, Developmental Delay, and Dysmorphic Features.

Clinical genetics - 1 Feb 2026

Patel Rahi, Makwana Rikhil, Marchi Elaine, Fan Ziyi, Falsey Erin, Menendez Beatriz, Giampietro Philip, Wentzensen Ingrid M, Hsieh Tzung-Chien, Shan Shu-Ou, Lyon Gholson J

Abstract excerpt

HYPK is a critical modulator and inhibitor of the NatA complex. Here, we report a male proband with a de novo HYPK variant presenting with developmental delay, autism, and facial dysmorphia. Biochemical analyses show that this pathogenic variant enhances the inhibitory activity of HYPK on NatA-mediated N-terminal protein acetylation. Our findings provide the first phenotypic characterization of a pathogenic HYPK...

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Identifiers

PMID: 40986405
DOI: 10.1111/cge.70039
PMCID: PMC12779223

Genes

HYPK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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