EAST syndrome is an autosomal recessive disorder characterized by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance
Sensorineural deafness in EAST syndrome results from endolyphatic electrolyte dysbalance.
|Hereditary Salt-wasting tubulopathies|
Grant B et al. (1997) Structure, function, and expression of SEL-1, a negative regulator of LIN-12 and GLP-1 in C. elegans.
Biunno I et al. (1997) Isolation of a pancreas-specific gene located on human chromosome 14q31: expression analysis in human pancreatic ductal carcinomas.
Donoviel DB et al. (1999) SEL-1L maps to human chromosome 14, near the insulin-dependent diabetes mellitus locus 11.
Harada Y et al. (1999) Complete cDNA sequence and genomic organization of a human pancreas-specific gene homologous to Caenorhabditis elegans sel-1.
Kao WH et al. (2008) MYH9 is associated with nondiabetic end-stage renal disease in African Americans.
Kopp JB et al. (2008) MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis.
OMIM.ORG articleOmim 607832