Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria

The study identified mutations in the ABCB6 gene as the first pathogenic gene associated with Dyschromatosis Universalis Hereditaria (DUH), a rare pigmentary disorder. Researchers examined a large five-generation Chinese family and two sporadic cases, using genome-wide linkage analysis and exome sequencing to find three mutations in ABCB6. These mutations caused ABCB6 to be retained in the Golgi apparatus, disrupting its normal function in melanosome transport and suggesting its role in skin pigmentation. The research provided new insights into the genetic basis of DUH and highlighted ABCB6's previously unreported role in skin pigmentation.