Identification of four novel LDL receptor gene mutations in the North-West Moroccan population

Familial Hypercholesterolemia (FH) and Familial Defective ApoB100 (FDB) are two clinically indistinguishable diseases with increased levels of LDL-cholesterol. Mutations in two different genes are responsible: LDLR for FH and APOB for FDB. We have a group of 46 individuals diagnosed clinically as ADH from the North-west Morocco, where genetic causes of this disease has not been well studied. We have analyzed LDLR and APOB genes by direct sequencing in order to find mutations causing this disease. We have identified four LDLR mutations: p.C146X, p.R57H, p.V806F, and p.W789L in five probands (11% of the sample). In conclusion, we have found a low prevalence of mutations in the two genes analyzed. Therefore, the main genetic causes of ADH in the population from the North-West of Morocco are probably due to genes different from LDLR or APOB.