Romdhane L, Messaoud O, Bouyacoub Y, Kerkeni E, Naouali C, Cherif Ben Abdallah L, Tiar A, Charfeddine C, Monastiri K, Chabchoub I, Hachicha M, Tadmouri G O, Romeo G, Abdelhak S
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, Université Tunis El Manar, Tunis, Tunisia.
Department of Biology, Faculty of Science of Bizerte, Université Tunis Carthage, Zarzouna, Tunisia.
Clin Genet. 2016 Mar;89(3):312-9. doi: 10.1111/cge.12616. Epub 2015 Jun 10.
Genetic diseases in the Tunisian population represent a real problem of public health as their spectrum encompasses more than 400 disorders. Their frequency and distribution in the country have been influenced by demographic, economic and social features especially consanguinity. In this article, we report on genetic disease association referred to as comorbidity and discuss factors influencing their expressivity. Seventy-five disease associations have been reported among Tunisian families. This comorbidity could be individual or familial. In 39 comorbid associations, consanguinity was noted. Twenty-one founder and 11 private mutations are the cause of 34 primary diseases and 13 of associated diseases. As the information dealing with this phenomenon is fragmented, we proposed to centralize it in this report in order to draw both clinicians' and researcher's attention on the occurrence of such disease associations in inbred populations as it makes genetic counseling and prenatal diagnosis challenging even when mutations are known.
突尼斯人群中的遗传疾病是一个切实的公共卫生问题，因为其范围涵盖400多种病症。它们在该国的发病率和分布受到人口、经济和社会特征尤其是近亲结婚的影响。在本文中，我们报告了被称为共病的遗传疾病关联，并讨论了影响其表现度的因素。突尼斯家庭中已报告了75种疾病关联。这种共病可能是个体性的或家族性的。在39种共病关联中，发现存在近亲结婚情况。21种奠基者突变和11种私有突变是34种原发性疾病和13种相关疾病的病因。由于有关这一现象的信息零散，我们建议在本报告中对其进行集中整理，以便引起临床医生和研究人员对近亲繁殖人群中此类疾病关联发生情况的关注，因为即使已知突变，这也会给遗传咨询和产前诊断带来挑战。
