RGD Reference Report - A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews. - Rat Genome Database

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A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews.

Authors: Meiner, V  Landsberger, D  Berkman, N  Reshef, A  Segal, P  Seftel, HC  Van der Westhuyzen, DR  Jeenah, MS  Coetzee, GA  Leitersdorf, E 
Citation: Meiner V, etal., Am J Hum Genet. 1991 Aug;49(2):443-9.
RGD ID: 5490248
Pubmed: PMID:1867200   (View Abstract at PubMed)
PMCID: PMC1683281   (View Article at PubMed Central)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Hyperlipoproteinemia Type II  IAGP 5490248DNA:deletion: :p.G197del (human)RGD 
Hyperlipoproteinemia Type II  ISOLDLR (Homo sapiens)5490248; 5490248DNA:deletion: :p.G197del (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Ldlr  (low density lipoprotein receptor)

Genes (Mus musculus)
Ldlr  (low density lipoprotein receptor)

Genes (Homo sapiens)
LDLR  (low density lipoprotein receptor)


Additional Information