East/sesame syndrome

Bockenhauer and Scholl 2009

EAST/SeSAME syndrome is a rare autosomal recessive inherited disorder characterized by cerebral spasms, sensorineural hearing loss, ataxia, intellectual deficit and electrolyte disorders (hypokalemia, metabolic alkalosis, hypomagnesemia).

It was initially described in 5 patients from 4 families. The disease is caused by homozygous or compound heterozygous mutations in the KCNJ10 gene (1q23.2), which codes for (inwardly rectifying potassium channel)_{Kir 4.1}, an inwardly rectifying potassium channelexpressed in the brain, inner ear and kidneys. In the meantime, further affected families (Celmina M et al. 2019) and new mutations have been reported (Nadella RK et al. 2019)

Incidence: <1:100,000

1. Celmina M et al (2019) EAST/SeSAME syndrome: Review of the literature and introduction of four new Latvian patients. Clin Genet 95:63-78.
2. Nadella RK et al (2019) Identification and functional characterization of two novel mutaions in KCNJ10 and PI4KB in SeSAME syndrome without electrolyte imbalance. Hum Genomics 13:53.