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Article

A de novo HK1 Variant in a Boy Fulfilling the Diagnostic Criteria for Tuberous Sclerosis Complex: Expanding the Phenotypic Spectrum of NEDVIBA.

American journal of medical genetics. Part A - 1 Nov 2025

Ariyasu Daisuke, Sato Hiroaki, Cho Hideo, Saito Yohei, Nakashima Moeko, Fujinami Kaoru, Tsuchihashi Takatoshi, Yamazawa Kazuki

Abstract excerpt

Hexokinase 1 (HK1) catalyzes the first step of glycolysis by phosphorylating glucose to glucose-6-phosphate. Recently, de novo heterozygous missense variants in the N-terminal regulatory domain of HK1 have been associated with neurodevelopmental disorders with visual defects and brain anomalies (NEDVIBA), likely through gain-of-function mechanisms causing excessive glucose phosphorylation. Tuberous sclerosis...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 40530554
DOI: 10.1002/ajmg.a.64156

Genes

HK1
TSC1
TSC2

Variants

Provenance

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

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