Return of a Fragile X Syndrome genetic result: exploring the feedback of individual genetic findings and their relation to traditional knowledge in a village in Cameroon.

IFGeneRA项目1总结 脆性X综合征是世界范围内智力残疾最常见的遗传原因。它被传输为 一种X连锁隐性疾病，主要影响男性智力迟钝，但也引起早期 大约20%的女性携带者绝经。在雅温得设立医学遗传科后， 喀麦隆，一位两个儿子患有精神发育迟滞的母亲的咨询允许一个分子 分析显示FXS（家族1）。这些患者属于一个特别大的家庭， 来自喀麦隆农村Babadjou村的受影响成员。巴巴朱的特点是 有≥ 1名成员患有精神发育迟滞的家庭。为了解释这种疾病的遗传模式， 相信在这个村庄的基础上，K酋长杀死了一个智力迟钝的人，这个人 K酋长和他的后代诅咒道。此后，K酋长的20位妻子都至少生下一个孙子 患有精神发育迟滞通过揭示FXS，基因检测在某种程度上揭示了一种解释， “K酋长的传奇诅咒”该村的创始人很可能是“一名正常的传播男性”，这意味着所有人 他的女儿会是携带者，50%的孙子会受到FXS的影响。巴巴朱 皇家和村庄提供了一个独特的机会，在非洲农村的背景下， 社会和遗传咨询对归还个人遗传结果的影响。我们将利用这次调查的结果 制作一部纪录片，介绍受影响家庭成员和普通公众在 遗传知识与传统知识的关系。 目的1：回顾性探讨FXS诊断对家庭1的影响，他们接受了FXS诊断结果。 他们在2011年的诊断，以及他们的大家庭成员。 在这个目标下，我们将探讨接受基因诊断对家庭1的母亲的影响， 与她分享儿子诊断结果的人 目的2：探索社区对FXS的看法，解释遗传模式的诅咒，传统的 遗传学知识和性别指责。 在这一目标下，我们将利用参与者对巴巴朱社区进行民族志研究。 观察，深入访谈和焦点小组讨论，以更好地了解FXS对 社区，探索解释疾病模型（"诅咒“）和遗传学的传统理解。

Summary IFGeneRA Project 1 Fragile X syndrome is the most common inherited cause of intellectual disability worldwide. It is transmitted as an X-linked recessive condition, primarily affecting males with mental retardation but also causing early menopause in about 20% of female carriers. 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 FXS (Family 1). The patients belonged to an exceptionally big family with multiple affected members from Babadjou, a village in rural Cameroon. The hallmark of Babadjou 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 grand-sons would be affected by FXS. The Babadjou Royal Family and village offers 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. We will use the findings of this project to produce a documentary on the experience of affected families members and the lay public on the relation between genetic and traditional knowledge. Aim 1: To retrospectively explore the impact of the FXS diagnosis on Family 1, who received results of their diagnosis in 2011, and members of their extended family. Under this aim, we will explore the impact of receiving a genetic diagnosis on the mother of Family 1 and any individuals she shared her sons' diagnosis with. Aim 2: To explore community views on FXS, the curse explaining patterns of inheritance, traditional knowledge of genetics and gendered blame. Under this aim, we will conduct an ethnographic study of the Babadjou community using participant observations, in-depth interviews and focus group discussions to better understand the impact of FXS on the community, explore explanatory disease models (`the curse') and traditional understandings of genetics.