Communicated by Mark H. Paalman
Mutation in Brief
LDL receptor cDNA sequence analysis in familial hypercholesterolemia patients: 5 novel mutations with high prevalence in families originating from southern Italy
Article first published online: 16 APR 2001
Copyright © 2001 Wiley-Liss, Inc.
Volume 17, Issue 5, page 433, May 2001
How to Cite
Liguori, R., Bianco, A. M., Argiriou, A., Pauciullo, P., Giannino, A., Rubba, P. and De Simone, V. (2001), LDL receptor cDNA sequence analysis in familial hypercholesterolemia patients: 5 novel mutations with high prevalence in families originating from southern Italy . Hum. Mutat., 17: 433. doi: 10.1002/humu.1122
Online Citation: Human Mutation, Mutation in Brief #412 (2001) Online http://journals.wiley.com/1059-7794/pdf/mutation/412.pdf.
- Issue published online: 16 APR 2001
- Article first published online: 16 APR 2001
- Manuscript Accepted: 14 FEB 2001
- Manuscript Received: 31 OCT 2000
- Parco Scientifico e Tecnologico di Napoli. Grant Number: Prog.n.7 - IMI 63631
- Cited By
- familial hypercholesterolemia;
- mutation analysis;
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. © 2001 Wiley-Liss, Inc.