title: [Familial homozygous hypercholesterolemia due to the c2271delT mutation in the LDL receptor gene, detected exclusively in Mexicans].
abstract: We present the case of an 18-years old women with homozygous familial hypercholesterolemia in which a LDL receptor mutation (c2271delT) was found. This mutation has been informed only in Mexicans. The patient was born in Oaxaca, Mexico. She has atypical location of tendinous and tuberous xanthomata, coronary atherosclerosis and multiple valve involvement. The response to ezetimibe/high dose statin therapy was poor. This case is an example of the occurrence of homozygous forms of familial hypercholesterolemia in genetically isolated populations of Mexico.
authors.affiliation: Hospital Regional de Alta Especialidad de Oaxaca, Oaxaca, Oax.
authors.forename: Lizbeth
authors.initials: L
authors.lastname: Martínez
authors.forename: María Luisa
authors.initials: ML
authors.lastname: Ordóñez Sánchez
authors.forename: Rosario
authors.initials: R
authors.lastname: Letona
authors.forename: Verónica
authors.initials: V
authors.lastname: Olvera Sumano
authors.forename: Mariano Miguel
authors.initials: MM
authors.lastname: Guerra
authors.forename: María Teresa
authors.initials: MT
authors.lastname: Tusié-Luna
authors.forename: Carlos Alberto
authors.initials: CA
authors.lastname: Aguilar-Salinas
mesh_terms: D000293:Adolescent; D005260:Female; D006720:Homozygote; D006801:Humans; D006937:Hypercholesterolemia / Q000235:genetics*; D008800:Mexico; D009154:Mutation; D010375:Pedigree; D011973:Receptors, LDL / Q000235:genetics*
chemical_list: D011973:Receptors, LDL