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Rare, But Now Described

Children of deaf parents are more likely to have a genetic disorder called COMMAND that is marked by deafness, blindness, and albinism, the Washington Post reports.

Researchers led by Brian Brooks at the National Eye Institute recently described COMMAND in two unrelated individuals with compound-heterozygous MITF mutations in the American Journal of Human Genetics. The children also had tissue missing from around their eyes, dense bones, small eyes, and enlarged heads.

The researchers note that autosomal dominant mutations in MITF are associated with the deafness- and pigmentation-related Waardenburg and Tietz syndromes, but that these individuals had the Waardenburg-causing MITF allele as well as another dominant-negative allele.

Brooks and his colleagues add that recognition of this syndrome is important as members of the deaf community often intermarry and as neither set of parents of the children in the study knew they had Waardenburg. They suggest that people suspected of having Waardenburg undergo genotyping and genetic counseling.

Heather Withrow, whose son Orion has the syndrome, tells the Post that the study helped answer some questions about Orion's symptoms. "It was more like an 'Oh, cool, that explains it!' kind of discovery," she says.