Analogous Conditions
From very early in research into its genetics, lethal white syndrome has been compared to Hirschsprung's disease (HSCHR) in humans, which is also caused by mutations on the EDNRB gene. Various polymorphisms on this gene result in intestinal agangliosis, in some cases attended by unusual pigmentation of the skin and eyes, and deafness. The occasionally attendant pigmentation condition in humans is called Waardenburg-Shah syndrome.
The terms "piebald-lethal" and "spotting lethal" apply to similar conditions in mice and rats respectively, both caused by mutations on the EDNRB gene. Only lethal in the homozygous state, the mutations are associated with white-spotted coats, deafness, and megacolon caused by intestinal agangliosis.
Read more about this topic: Lethal White Syndrome
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