De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment.
Eur J Hum Genet
; 27(7): 1081-1089, 2019 07.
Article
en En
| MEDLINE
| ID: mdl-30778173
ABSTRACT
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.
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Linaje
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Neuropatía Hereditaria Motora y Sensorial
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Mutación Missense
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Eritrocitos
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Hexoquinasa
Tipo de estudio:
Risk_factors_studies
Idioma:
En
Revista:
Eur J Hum Genet
Asunto de la revista:
GENETICA MEDICA
Año:
2019
Tipo del documento:
Article