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Clinical Variability Associated with the Recurrent Pathogenic Gain-of-function Variant, c.1370C>T in the HK1 Gene and Related Neurodevelopmental Disorder

Year: 2025

Type: article

Abstract: Hexokinase 1 (HK1), encoded by the HK1 gene, catalyses the adenosine triphosphate-dependent phosphorylation of glucose to glucose-6-phosphate, the initial step of glycolysis. Pathogenic monoallelic gain-of-function variants in HK1 have been implicated in neurodevelopmental disorders with visual defects and brain anomalies (NEDVIBA). This report describes the first molecularly confirmed case from India of an individual harboring the recurrent de novo variant, c.1370C>T p. (Thr457Met) in HK1 in a heterozygous state. Furthermore, we provide a comprehensive review of previously reported patients and an analysis of the variable clinical phenotypes.

Source: Genetic Clinics

DOI: 10.4103/genc.genc_30_25

Authors: Prince Jacob, Mannah Achu Alex, Deepa Bhat, Venkatraman Bhat, Siddarmappa J. Patil

Institutions: JSS Academy of Higher Education and Research, JSS Medical College and Hospital, Mazumdar Shaw Medical Centre

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

OpenAlex ID: W7117251994