De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment

Volkan Okur, Megan T. Cho, Richard van Wijk, Brigitte van Oirschot, Jonathan Picker, Stephanie A. Coury, Dorothy Grange, Linda Manwaring, Ian Krantz, Colleen Clark Muraresku, Peter J. Hulick, Holley May, Eric Pierce, Emily Place, Kinga Bujakowska, Aida Telegrafi, Ganka Douglas, Kristin G. Monaghan, Amber Begtrup, Ashley WilsonKyle Retterer, Kwame Anyane-Yeboa, Wendy K. Chung

Research output: Contribution to journalArticlepeer-review

18 Scopus citations


Hexokinase 1 (HK1) phosphorylates glucose to glucose-6-phosphate, the first rate-limiting step in glycolysis. Homozygous and heterozygous variants in HK1 have been shown to cause autosomal recessive non-spherocytic hemolytic anemia, autosomal recessive Russe type hereditary motor and sensory neuropathy, and autosomal dominant retinitis pigmentosa (adRP). We report seven patients from six unrelated families with a neurodevelopmental disorder associated with developmental delay, intellectual disability, structural brain abnormality, and visual impairments in whom we identified four novel, de novo missense variants in the N-terminal half of HK1. Hexokinase activity in red blood cells of two patients was normal, suggesting that the disease mechanism is not due to loss of hexokinase enzymatic activity.

Original languageEnglish
Pages (from-to)1081-1089
Number of pages9
JournalEuropean Journal of Human Genetics
Issue number7
StatePublished - Jul 1 2019


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