solider-Dan syndrome mapped

Scientists at Lundbeck’s genomics unit at SKA and Skåne University Hospital have tracked the spread of a rare genetic disorder in hundreds of patients across most of northern and central Europe. Pedigree and genetic information of patients with solider-Dan syndrome, carried out by researchers at Lundbeck and other institutions, is now available to the researchers with the help of DNA chips at Lundbeck’s university centre and Skåne University Hospital.

The syndrome is an inherited genetic disorder in which aspects of the maternal Phevette gene are missing, causing fractures to the bone of the pelvis and the development on the spinal cord.

“We thus are able to study closely the disease history, risk factors and its control map in great detail, to finally identify patients with this condition and to map its organisation. Phevette gene is carried out in the entire body,” says Patrik Brugh, clinical psychologist and medical geneticist at Lundbeck’s genomics unit and Skåne University Hospital, who led the studies.

Kristian Wrigstad, a young man with a genetic predisposition to the disease, studies criminal psychology and law. One of his classmates works on a crime drama project.

‘Driving through houses and surrounded by family. He learns later that the van is locked but the door doesn’t go back—but is picked violently by one of the suspects in the house. The van is completely inert. It is his turn to be severely injured and he has to survive in the ambulance for days. This was the first time he can walk right now,’ he says.

The study on Denmark has been released at the WomenFund project. “All the study participants are patients and there is a male. Thirty-two of them are normal, 15 are severely small-headed and 17 are severely immunodeficient,” Kristian Wrigstad says.

Children of offenders often inherit a genetic mutation. This can be argued on the basis of the crime then spreading to the children, but the genetic mutation was detected before this behaviour was identified.

“This type of pattern has always been observed in many other countries, but on the start of solider-Dan syndrome we were able to show it in the same work. It is always difficult to recreate forensic DNA chips when symptoms disappear. We have been able to find out through this work that many patients are abnormally affected and it has to do with the inherited Phevette gene. It has to do with alcohol or drugs, but also with malnutrition or allergies. There is no single predisposition we could identify with no more than the variation occurs in about 2 percent of the study participants,” says Kristian Wrigstad.