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

Key Points

MAIN FINDING: A male patient with a de novo HYPK variant exhibits intellectual disability and developmental delay.
KEY EVIDENCE: Biochemical analyses indicate this variant enhances HYPK's inhibitory role on NatA-mediated N-terminal protein acetylation.
APPROACH: The case involves a comprehensive phenotypic characterization of the HYPK variant in a clinical context.
SIGNIFICANCE: These findings aid in understanding HYPK-related conditions, improving diagnosis and management globally.

Abstract

ABSTRACT 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 variant and elucidate its molecular basis, which will facilitate future diagnosis and management in similar cases worldwide.

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