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CHDM researchers helped to identify a genetic mutation underlying progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome).

March 01, 2017

ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss: Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy (PEHO) syndrome is an early childhood onset, severe autosomal recessive encephalopathy characterized by extreme cerebellar atrophy due to almost total granule neuron loss. By combining homozygosity mapping in Finnish families with Sanger sequencing of positional candidate genes and with exome sequencing a homozygous missense substitution of leucine for serine at codon 31 in ZNHIT3 was identified as the primary cause of PEHO syndrome. Read the full article here, https://academic.oup.com/…/ZNHIT3-is-defective-in-PEHO-synd…