title: [The Familial Hypercholesterolemia Caused by a Novel Human Low Density Lipoprotein Receptor Gene Mutation c.1327 T>C (p.W433R)].
abstract: During investigation of molecular nature of familial hypercholesterolemia (FH) in Petrozavodsk (Russia) cohort of patients a novel low density lipoprotein (LDL) receptor gene mutation was found. This mutation designated c.1327 T>C (W443R [W422R]) was predicted to cause substitution of arginine for tryptophan residue in the very conservative -propeller domain of the LDL receptor. Inheritance of the new mutation was traced in four generations and its cosegregation with hypercholesterolemia phenotype was observed. Despite the predicted pathogenic effect of the mutation, ischemic heart disease in the pedigree was mild or absent. We consider identification of this mutation in the pedigree extremely helpful to start preventive medical treatment in affected patients.
authors.affiliation: Petrozavodsk State University, Petrozavodsk, Russia.|Institute of Experimental Medicine, St. Petersburg, Russia.|St.Petersburg State University, St. Petersburg, Russia.
authors.forename: V A
authors.initials: VA
authors.lastname: Korneva
authors.affiliation: Petrozavodsk State University, Petrozavodsk, Russia.|Institute of Experimental Medicine, St. Petersburg, Russia.|St.Petersburg State University, St. Petersburg, Russia.
authors.forename: T Yu
authors.initials: TY
authors.lastname: Kuznetsova
authors.affiliation: Petrozavodsk State University, Petrozavodsk, Russia.|Institute of Experimental Medicine, St. Petersburg, Russia.|St.Petersburg State University, St. Petersburg, Russia.
authors.forename: R Z
authors.initials: RZ
authors.lastname: Murtazina
authors.affiliation: Petrozavodsk State University, Petrozavodsk, Russia.|Institute of Experimental Medicine, St. Petersburg, Russia.|St.Petersburg State University, St. Petersburg, Russia.
authors.forename: A V
authors.initials: AV
authors.lastname: Didio
authors.affiliation: Petrozavodsk State University, Petrozavodsk, Russia.|Institute of Experimental Medicine, St. Petersburg, Russia.|St.Petersburg State University, St. Petersburg, Russia.
authors.forename: T Yu
authors.initials: TY
authors.lastname: Bogoslovskaya
authors.affiliation: Petrozavodsk State University, Petrozavodsk, Russia.|Institute of Experimental Medicine, St. Petersburg, Russia.|St.Petersburg State University, St. Petersburg, Russia.
authors.forename: M Yu
authors.initials: MY
authors.lastname: Mandelshtam
authors.affiliation: Petrozavodsk State University, Petrozavodsk, Russia.|Institute of Experimental Medicine, St. Petersburg, Russia.|St.Petersburg State University, St. Petersburg, Russia.
authors.forename: V B
authors.initials: VB
authors.lastname: Vasilyev
mesh_terms: D005260:Female; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D011973:Receptors, LDL / Q000235:genetics*; D012426:Russia
chemical_list: C573412:LDLR protein, human; D011973:Receptors, LDL
keywords: Petrozavodsk; familial hypercholesterolemia; low density lipoprotein; low density lipoprotein receptor gene; mutation; statins