CYS127S (FH-Kairouan) and D245N (FH-Tozeur) mutations in the LDL receptor gene in Tunisian families with familial hypercholesterolaemia

2 These frequencies are as high as those found in populations with a high degree of inbreeding, such as Afrikaners in South Africa, 3 Christian Lebanese, 4 Finns, 5 and French Canadians. 6 In these populations, only a limited number of LDL-R gene mutations cause FH in the majority of affected cases as the result of a founder effect. Because of numerous consanguineous unions in rural areas in Tunisia, it can be predicted that the number of mutations causing FH may be limited.