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Atherosclerosis. 2010 Jun;210(2):493-6. doi: 10.1016/j.atherosclerosis.2009.11.051. Epub 2009 Dec 5.

Identification and functional characterization of LDLR mutations in familial hypercholesterolemia patients from Southern Italy.

Author information

  • 1CEINGE S.C.a r.l. Biotecnologie Avanzate, Napoli, Italy.

Abstract

OBJECTIVE:

Autosomal dominant hypercholesterolemias are due to defects in the LDL receptor (LDLR) gene, in the apolipoprotein B-100 gene or in the proprotein convertase subtilisin/kexin type 9 gene. The aim of this study was to identify and functionally characterize mutations in the LDLR gene that account for most cases of familial hypercholesterolemia (FH).

METHODS:

We enrolled 56 unrelated patients from Southern Italy with a clinical diagnosis of FH. The mutation screening was performed by direct sequencing of the promoter and the 18 exons of the LDLR gene and by multiplex ligation-dependent probe amplification (MLPA) analysis to search for large rearrangements.

RESULTS AND CONCLUSION:

We found 5 new mutations, the causative role of which was demonstrated by functional characterization performed by quantification of fluorescent LDL uptake in EBV-transformed B lymphocytes. These results enlarge the spectrum of FH-causative LDLR mutations. Lastly, screening for large rearrangements is highly recommended for the genetic diagnosis of FH.

Copyright (c) 2009 Elsevier Ireland Ltd. All rights reserved.

PMID:
20045108
[PubMed - indexed for MEDLINE]
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