Community engagement for Genetic Research on Fragile X Syndrome in Cameroon

Following the establishment of a Medical Genetic Unit in Yaoundé Cameroon, the consultation of a mother of two sons affected with mental retardation allowed a molecular analysis that revealed Fragile X syndrome (FXS).

The patients belonged to an exceptionally big family with multiple affected members from a village in rural Cameroon. The hallmark of this village is the large number of families with ≥ 1 members affected with mental retardation. To explain the disease inheritance pattern, the belief is that during the foundation of this village, Chief K killed a mentally delayed individual, and that this man cursed Chief K and his descendants. Thereafter, all 20 wives of Chief K gave birth to at least one grandchild with mental retardation. By revealing FXS, the genetic testing has in some way revealed an explanation for “chief K’s legendary curse”. The founder of the village was likely “a normal transmitting male”, meaning that all his daughters would have been carriers and 50% of the grandsons would be affected by FXS. The Royal Family and village offer a unique opportunity to study, in the context of rural Africa, the psychological, social and genetic counselling impact of the return of individual genetic results. The findings of this project were used to produce a documentary on the experience of affected families’ members and the lay public on the relation between genetic and traditional knowledge. We hope that this work will pave the way for the use and potential impact of genetic research on African communities.