Cantu syndrome

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Cantu syndrome. This is caused by mutations in the ABCC9 and KCNJ8 genes. It is a potassium channelopathy. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the ABCC9 and KCNJ8 genes
  • It is a potassium channelopathy
  • The transmission is autosomal dominant

Neurological features

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Dermatological features

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Dysmorphic features

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Skeletal features

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Cardiopulmonary features

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Differential diagnosis

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Magnetic resonance imaging (MRI) brain: features

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References

  1. van Bon BW, Gilissen C, Grange DK, et al. Cantú syndrome is caused by mutations in ABCC9. Am J Hum Genet 2012; 90:1094-1101. 
  2. Harakalova M, van Harssel JJ, Terhal PA, et al. Dominant missense mutations in ABCC9 cause Cantú syndrome. Nat Genet 2012; 44:793-796. 
  3. Cooper PE, Reutter H, Woelfle J, et al. Cantú syndrome resulting from activating mutation in the KCNJ8 gene. Hum Mutat 2014; 35:809-813. 
  4. Brownstein CA, Towne MC, Luquette LJ, et al. Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities-support for the role of K(ATP) channels in this condition. Eur J Med Genet 2013; 56:678-682. 
  5. Leon Guerrero CR, Pathak S, Grange DK, Singh GK, Nichols CG, Lee JM, Vo KD. Neurologic and neuroimaging manifestations of Cantú syndrome: A case series. Neurology 2016; 87:270-276. 
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