Toth - Figure 6 - Genetics -3 Text

FH subjects are at increased risk for all forms of atherosclerotic disease and premature death, secondary to lifelong pathogenic elevations in LDL cholesterol. As shown in the Figure, the gene for the LDL receptor resides on the short arm of chromosome 19, with a specific location defined as 19p13.1-13.3. The Human Gene Mutation Database at the Institute of Medical Genetics in Cardiff, Wales, lists 1,614 mutations in the LDL receptor gene. However, as investigation of FH continues throughout the world, this list of specific mutations will undoubtedly expand quite dramatically. There are likely to be many mutations in this receptor that are still unaccounted for and uncharacterized.

Toth PP. J Clin Lipidol. 2011; 5(6).