LDL-receptor mutations in Europe

✍ Scribed by Janine Genschel; George V.Z. Dedoussis; Hartmut H.-J. Schmidt

• Publisher: John Wiley and Sons
• Year: 2005
• Tongue: English
• Weight: 149 KB
• Volume: 26
• Category: Article
• ISSN: 1059-7794
• DOI: 10.1002/humu.20223

✦ Synopsis

The original article to which this Erratum refers was published in Human Mutation 24: 443-459 (2004).

We provide additional data on LDLR mutations in the European population, which we recently published in a Review . Our primary focus, besides pointing out the variability of reported mutations in different European countries, was to illustrate the frequencies of the reported mutations, as far these data were available. Here, we present additional published mutational data for Poland, Bulgaria, and Russia that should have been included in our Review.

A Polish cohort of 30 index cases, including 12 families, describing 11 mutations was reported. Among them, four were small deletions, six were missense mutations, and one large deletion between exons 6 and 9 were identified (Go ´rski et al., 1998). The mutations c.654 -656delTGG (p.D219del), and c.1775G4A (p.G592E) were found in two families each; all other mutations were only found in one family.

FIGURE 1. This map of Europe illustrates the various levels of FH heterogeneity, as we obtained information on mutational reports in the literature.The scale numbering re£ects the amount of reported di¡erent mutations.