PEHO syndrome
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
PEHO syndrome. This is caused by mutations in the ZNHIT3 gene. The gene encodes a nuclear zinc finger protein. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the ZNHIT3 gene
- The gene encodes a nuclear zinc finger proteinÂ
Genetic mutations causing PEHO-like syndrome
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Dysmorphic features
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Other features
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Differential diagnosis
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Evoked potentials
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Magnetic resonance imaging (MRI) brain
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Acronym
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References
- Langlois S, Tarailo-Graovac M, Sayson B, et al. De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome. Eur J Hum Genet 2016; 24:949-953.
- Fujimoto S, Yokochi K, Nakano M, Wada Y. Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome) in two Japanese siblings. Neuropediatrics 1995; 26:270-272.
- Somer M. Diagnostic criteria and genetics of the PEHO syndrome. J Med Genet 1993; 30:932-936.
- Anttonen AK, Laari A, Kousi M, et al. ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss. Brain 2017; 140:1267-1279.
