LDL receptor cDNA sequence analysis in familial hypercholesterolemia patients

5 novel mutations with high prevalence in families originating from southern Italy.

R. Liguori, A. M. Bianco, A. Argiriou, P. Pauciullo, A. Giannino, P. Rubba, V. De Simone

Research output: Contribution to journalArticle

13 Citations (Scopus)

Abstract

We screened a group of patients from southern Italy with clinically diagnosed familial hypercholesterolemia (FH) for mutations of the LDL receptor (LDLR) gene. RNA from each proband was analysed by RT-PCR followed by complete cDNA sequencing. Among 51 unrelated FH families we detected 17 mutations affecting the coding region of the LDLR gene. Five of these mutations, designated R395P, L783fsinsG, IVS15-3C>A, IVS3+5G>A, and 1698-1704delCACCCTAinsGCCCAAT (ITL545MPN), have not yet been reported in the literature. Interestingly, the novel IVS15-3C>A splicing mutation was detected in 20% of our unrelated FH families, suggesting an unusually high prevalence in our local population. Hum Mutat 17:433, 2001.

Original languageEnglish
Pages (from-to)433
Number of pages1
JournalHuman Mutation
Volume17
Issue number5
Publication statusPublished - May 2001

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Hyperlipoproteinemia Type II
LDL Receptors
Italy
Sequence Analysis
Complementary DNA
Mutation
Genes
RNA
Polymerase Chain Reaction
Population

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

LDL receptor cDNA sequence analysis in familial hypercholesterolemia patients : 5 novel mutations with high prevalence in families originating from southern Italy. / Liguori, R.; Bianco, A. M.; Argiriou, A.; Pauciullo, P.; Giannino, A.; Rubba, P.; De Simone, V.

In: Human Mutation, Vol. 17, No. 5, 05.2001, p. 433.

Research output: Contribution to journalArticle

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