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GENATLAS PHENOTYPE
last update : 26-02-2015
Symbol COQ10D1
Location 4q21.23
Name coenzyme Q10 deficiency
Corresponding gene COQ2
Main clinical features
  • progressive muscle weakness, abnormal fatigability, and central nervous system dysfunction since early childhood, nephropathy, learning disability and epileptiform abnormalities on EEG, with a learning disability and epileptiform abnormalities on EEG, progressive cerebellar symptoms, and episodic myoglobinuria; measurement of skeletal muscle mitochondria coenzyme Q10 (CoQ10) severely reduced
  • also primary glomerular disease with renal lesions that vary in severity and are not necessarily associated with neurological signs
  • also forms with cerebellar ataxia and marked cerebellar atrophy; and pure myopathy
    • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    neurology
    multisystem/generalized
    Type disease
    Gene product
    Name polyprenyl-p-hydroxybenzoate transferase
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     890 A > G mutation, changes amino acid 297 from tyrosine into cysteine, in a conserved trans-membrane domain and causes defects of bioenergetics and de novo pyrimidine synthesis
    Remark(s)