Study of multigenerational family may have provided clue to DDH risk

In their study of a four-generation family in Utah with a history of developmental dysplasia of the hip, researchers from Thomas Jefferson University and the University of Utah found a genetic mutation in all affected family members.

The researchers hope the finding will eventually lead them to a genetic test that will allow them to detect susceptibility for developmental dysplasia of the hip (DDH) early.

“If this could be achieved, it could make a huge difference for these patients later in life. We think we may have found a clue to DDH susceptibility that has eluded the orthopedic community for a long time,” George Feldman, MD, PhD, lead investigator of the study, stated in a Thomas Jefferson University press release. The study was recently published in the Journal of Bone and Mineral Research.

The investigators performed a genome-wide linkage analysis of 72 members of the family and found a genetic mutation on chromosome 3 in a chemokine receptor in all members with the condition, which, according to the release, “functions as a receptor for a chemical messenger that may affect the maturation of cartilage-forming cells, possibly delaying their development.”

The investigators found 11 family members with DDH had at least three signs of the condition and 13 members had one or two signs and a questionable diagnosis.

“The lack of overt signs of DDH among some members of the family who transmitted the DNA variant is understandable in light of the fact that DDH is a complex disorder with genetic, epigenetic and environmental causes,” Feldman stated in the press release.

References:

Feldman GJ. J Bone Miner Res. 2013;doi: 10.1002/jbmr.1999.