De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment.
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ABSTRACT:
SUBMITTER: Okur V
PROVIDER: S-EPMC6777464 | biostudies-literature | 2019 Jul
REPOSITORIES: biostudies-literature
Publications
De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment.
Okur Volkan V Cho Megan T MT van Wijk Richard R van Oirschot Brigitte B Picker Jonathan J Coury Stephanie A SA Grange Dorothy D Manwaring Linda L Krantz Ian I Muraresku Colleen Clark CC Hulick Peter J PJ May Holley H Pierce Eric E Place Emily E Bujakowska Kinga K Telegrafi Aida A Douglas Ganka G Monaghan Kristin G KG Begtrup Amber A Wilson Ashley A Retterer Kyle K Anyane-Yeboa Kwame K Chung Wendy K WK
European journal of human genetics : EJHG 20190218 7
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 disab ...[more]
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