Genomic characterization of two deletions in the LDLR gene in Tunisian patients with familial hypercholesterolemia

► Identification of two large deletions in the LDLR gene by MLPA. ► Characterization of their exact extent and breakpoint sequences. ► The first one is a deletion of 12,684 bp linking intron 1 to intron 5. ► The second deletion spans 2364 bp from intron 4 to 6. ► Intrachromatid non-allelic homologous recombination (NAHR) between Alu elements is involved in rearrangements.