NIH: Researchers at the National Eye Institute (NEI), part of the National
Institutes of Health, have identified the genetic underpinnings of a
rare disorder that causes children to be born with deafness, blindness,
albinism and fragile bones. The newly recognized syndrome, COMMAD,
affects children who inherit two mutations of a gene – one from each
parent – each of whom is deaf due to another rare, genetic disorder
called Waardenburg syndrome 2A. A paper documenting the first recognized
cases of COMMAD appears in the American Journal of Human Genetics.
