Familial hypercholesterolemia 2
| Disorder | |
|---|---|
| OMIM #: | #144010 (Click to access OMIM database) |
| Disorder: | Familial hypercholesterolemia 2 |
| Also known as: | FCHL2 HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B APOLIPOPROTEIN B-100, FAMILIAL LIGAND-DEFECTIVE HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B APOLIPOPROTEIN B-100, FAMILIAL DEFECTIVE |
| Clinical | |
| Phenotype: | hypercholestrolemia, xanthelasma, coronary artery disease, tendinous xanthomas |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal hypercholesterolemia |
| Mutations | |
| 1 Amish | |
| Gene: | APOB |
| Base Change: | G>A, at nucleotide 10580 |
| Amino Acid Change: | arg 3527 --> gln |
| Last updated: | 2022-11-04 |
| References |
|---|
| Lynch MT, Maloney KA, Pollin TI, Streeten EA, Xu H; Regeneron Genetics Center, Shuldiner AR, Van Hout CV, Gonzaga-Jauregui C, Mitchell BD. (2021) The burden of pathogenic variants in clinically actionable genes in a founder population. Am J Med Genet A Nov;185(11):3476-3484. PubMed ID: 34467620 |
| Shen H, Damcott CM, Rampersaud E, Pollin TI, Horenstein RB, McArdle PF, Peyser PA, Bielak LF, Post WS, Chang YP, Ryan KA, et al. (2010) Familial defective apolipoprotein B-100 and increased low-density lipoprotein cholesterol and coronary artery calcification in the Old Order Amish. Arch Intern Med Nov 8;170(20):1850-5. PubMed ID: 21059979 |
| Williams KB, Horst M, Young M, Pascua C, Puffenberger EG, Brigatti KW, Gonzaga-Jauregui C, Shuldiner AR, Gidding S, Strauss KA, Chowdhury D. (2022) Clinical characterization of familial hypercholesterolemia due to an amish founder mutation in Apolipoprotein B. BMC Cardiovasc Disord Mar 17;22(1):109. PubMed ID: 35300601 |
| Xu H, Ryan KA, Jaworek TJ, Southam L, Reid JG, Overton JD, Baras A, Puurunen MK, Zeggini E, Taylor SI, Shuldiner AR, Mitchell BD. (2017) Familial Hypercholesterolemia and Type 2 Diabetes in the Old Order Amish. Diabetes Jul;66(7):2054-2058. PubMed ID: 28428224 |
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