Effectiveness of screening for known mutations in Sicilian patients with "probable" familial hypercholesterolemia

Salvatore Costa, Carlo Maria Barbagallo, Angelo Baldassare Cefalu', Maurizio Averna, Nicoletta Vivona, Angelo B. Cefalù, Travali, Emmanuele, Rosalia Caldarella, Fiore, Giovanni Emmanuele, Davide Noto, Salvatore Travali, Stefano Bertolini, Maurizio R. Averna, Alberto Notarbartolo, Carlo M. Barbagallo, Giuseppina Marino, Maria Concetta Gueli

Research output: Contribution to journalArticlepeer-review

1 Citation (Scopus)

Abstract

Background and Aim: More than 750 mutations in the low-density lipoprotein (LDL) receptor gene are currently known to cause familial hypercholesterolemia (FH), but the array of mutations varies considerably in different populations. The definition of essentially all the LDL receptor gene mutations in a population is therefore a prerequisite for the implementation of nation-wide genetic testing for FH. Methods and Results: In this study, a screening strategy based on PCR-enzymatic digestion and PCR-allele specific hybridisation procedures was used to evaluate the frequency distributions of 11 known mutations in a cohort of 214 unrelated subjects meeting the diagnostic criteria of "probable" FH. We identified 20 mutation carriers (9.3%). One mutation (FH Palermo-1) occurred with a relatively high frequency, accounting for 7% of the entire study cohort. We also report the first observation of the receptor-negative mutation V408M (Afrikaner-2) in Italy. Conclusions: Our screening approach is not effective and, at least in our area, it is not a suitable alternative to the more expensive and time-consuming sequencing approach. However, our data suggest that it is possible to identify the molecular defect in about 10% of Sicilian patients with a clinical diagnosis of "probable FH" using a rapid laboratory diagnostic mutation panel. Four mutations were responsible for all of the diagnosed cases, and it could be reasonable to use this 4-mutation panel as a preliminary step before adopting a more complex laboratory approach. ©2001, Medikal Press.
Original languageEnglish
Pages (from-to)394-400
Number of pages7
JournalNMCD. NUTRITION METABOLISM AND CARDIOVASCULAR DISEASES
Volume11
Publication statusPublished - 2001

All Science Journal Classification (ASJC) codes

  • Medicine (miscellaneous)
  • Endocrinology, Diabetes and Metabolism
  • Nutrition and Dietetics
  • Cardiology and Cardiovascular Medicine

Fingerprint

Dive into the research topics of 'Effectiveness of screening for known mutations in Sicilian patients with "probable" familial hypercholesterolemia'. Together they form a unique fingerprint.

Cite this