Preventing transmission of dyschromatosis universalis hereditaria through preimplantation genetic testing: A case...

Dyschromatosis universalis hereditaria (DUH) is a rare type of autosomal dominant inheritance disease. It has varying gene mutation sites among different ethnicities. SASH1 and ABCB6 have been identified as the causative genes of this disorder.

A 30-year-old woman presented with irregular black pigmentation spots to our department. Upon examination, the pigmentations were found to be especially dense on the extremities and the face. She had no family history of inbreeding, nor any previous chemical exposure. Genetic testing confirmed that the disease occurred because the patient has a SASH1 gene mutation. Following the use of assisted reproductive technology and preimplantation genetic testing for monogenic disorders, the patient give birth to a health baby.

Using assisted reproductive technology/preimplantation genetic testing for monogenic disorders is an option for DUH patients to reduce the risk of transmitting the pathogenic variant to their offspring.