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Clin Genet ; 89(3): 312-9, 2016 Mar.
Article in English | MEDLINE | ID: mdl-26010040

ABSTRACT

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.


Subject(s)
Consanguinity , Genetic Diseases, Inborn/epidemiology , Comorbidity , Female , Founder Effect , Genetic Diseases, Inborn/genetics , Humans , Male , Pedigree , Tunisia/epidemiology
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