A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews

V. Meiner, D. Landsberger, N. Berkman, A. Reshef, P. Segal, H. C. Seftel, D. R. Van der Westhuyzen, M. S. Jeenah, G. A. Coetzee, E. Leitersdorf

Research output: Contribution to journalArticlepeer-review

Abstract

Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by mutations in the low-density-lipoprotein (LDL) receptor. Here we characterize an LDL-receptor founder mutation that is associated with a distinct LDL-receptor haplotype and is responsible for FH in 35% of 71 Jewish-Ashkenazi FH families in Israel. Sixty four percent (16/25) of the Ashkenazi patients who carry this mutant allele were of Lithuanian origin. The mutation was not found in 47 non-Ashkenazi FH families. This mutation was prevalent (8/10 FH cases) in the Jewish community in South Africa, which originated mainly from Lithuania. The mutation, a 3-bp in-frame deletion that would result in the elimination of Gly197, has been previously designated FH-Piscataway. PCR amplification of a DNA fragment that includes the mutation in heterozygous individuals results in the formation of a heteroduplex that can be demonstrated by PAGE and used for molecular diagnosis.

Original languageEnglish
Pages (from-to)443-449
Number of pages7
JournalAmerican Journal of Human Genetics
Volume49
Issue number2
StatePublished - 1991
Externally publishedYes

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