Amish, Mennonite, and Hutterite
Genetic Disorder Database

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, premature coronary atherosclerosis, hyperlipidemia, xanthomas  
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
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: 2018-12-14 

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 
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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