Characterization of three mutations of the low density lipoprotein receptor gene in Italian patients with familial hypercholesterolemia

N. Lelli, M. Ghisellini, R. Gualdi, R. Tiozzo, S. Calandra, A. Gaddi, A. Ciarrocchi, M. Area, S. Fazio, D. A. Coviello, S. Bertolini

Research output: Contribution to journalArticlepeer-review

21 Scopus citations


Three gross rearrangements of the low density lipoprotein receptor (LDL-R) gene were recognized during a survey of 23 unrelated Italian subjects with familial hypercholesterolemia (FH). Restriction endonuclease data were obtained by Southern blotting and hybridization with exon-specific probes. Proband FH-29 is heterozygous for a 4-kb deletion, which eliminates exons 13 and 14. This mutation is similar to that previously reported by other investigators in one Italian homozygous and two British and Canadian heterozygous patients. Proband FH-30 is homozygous for a 5.5 -kb insertion caused by a duplication of exons 16 and 17 of the LDL-R gene. LDL-R mRNA isolated from skin fibroblasts of FH-30 was found to be larger than normal mRNA (5.6 versus 5.3 kb), in concordance with the insertion of the 236 nucleotides corresponding to exons 16 and 17. Proband FH-44 was found to have >25-kb deletion, which eliminates the first six exons and the promoter region of the gene. This is the first example of a deletion that eliminates the promoter as well as the ligand-binding domain of the LDL-R gene. In the skin fibroblasts of this patient, the level of LDL-R mRNA was approximately half that found in control fibroblasts. We designate the new mutations found in FH-30 and FH-44 as FHViterbo and FHBologna-1, respectively, after the names of the Italian cities where the two patients were born.

Original languageEnglish (US)
Pages (from-to)234-243
Number of pages10
JournalArteriosclerosis, thrombosis, and vascular biology
Issue number2
StatePublished - 1991
Externally publishedYes


  • Familial hypercholesterolemia
  • Italian familial hypercholesterolemic patients
  • Low density lipoprotein receptor gene
  • Southern blotting analysis

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine


Dive into the research topics of 'Characterization of three mutations of the low density lipoprotein receptor gene in Italian patients with familial hypercholesterolemia'. Together they form a unique fingerprint.

Cite this