Sitosterolemia
| Disorder | |
|---|---|
| OMIM #: | #210250 (Click to access OMIM database) |
| Disorder: | Sitosterolemia |
| Also known as: | STSL, PHYTOSTEROLEMIA |
| Clinical | |
| Phenotype: | increased intestinal absorption and decreased biliary excretion of dietary sterols, hypercholesterolemia, hemolysis, hemolytic anemia, premature coronary atherosclerosis, hyperlipidemia, xanthomas, xanthelasma |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | ABCG8 |
| Base Change: | G>A, at nucleotide 1720 |
| Amino Acid Change: | gly 574 --> arg |
| 2 Hutterite | |
| Gene: | ABCG8 |
| Base Change: | C>G, at nucleotide 320 |
| Amino Acid Change: | ser 107 --> term |
| Last updated: | 2022-12-08 |
| References |
|---|
| Berge KE, Tian H, Graf GA, Yu L, Grishin NV, Schultz J, Kwiterovich P, Shan B, Barnes R, and Hobbs HH. (2000) Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. Science 290(5497): 1771-1775. PubMed ID: 11099417 |
| Boycott KM, Parboosingh JS, Chodirker BN, Lowry RB, McLeod DR, Morris J, Greenberg CR, Chudley AE, Bernier FP, Midgley J, Møller LB and, Innes AM. (2008) Clinical genetics and the Hutterite population: a review of Mendelian disorders. Am J Med Genet A 146A(8):1088-98. PubMed ID: 18348266 |
| Horenstein RB, Mitchell BD, Post WS, Lütjohann D, von Bergmann K, Ryan KA, Terrin M, Shuldiner AR, Steinle NI. (2013) The ABCG8 G574R variant, serum plant sterol levels, and cardiovascular disease risk in the Old Order Amish. Arterioscler Thromb Vasc Biol Feb;33(2):413-9. PubMed ID: 23241408 |
| Mymin D, Salen G, Triggs-Raine B, Waggoner DJ, Dembinski T, Hatch GM. (2018) The natural history of phytosterolemia: Observations on its homeostasis. Atherosclerosis Feb;269:122-128. PubMed ID: 29353227 |
| Peterson AL, DeLine J, Korcarz CE, Dodge AM, Stein JH. (2020) Phenotypic Variability in Atherosclerosis Burden in an Old-Order Amish Family With Homozygous Sitosterolemia. JACC Case Rep Apr 15;2(4):646-650. PubMed ID: 34317312 |
| Wang J, Joy T, Mymin D, Frohlich J and, Hegele RA. (2004) Phenotypic heterogeneity of sitosterolemia. J Lipid Res 45(12):2361-7. PubMed ID: 15375183 |
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