title: [Transthyretin gene V30M, H90N, and del9 mutations in cardiomyopathy patients from St. Petersburg].
abstract: A search of transthyretin (TTP) gene mutations was conducted in patients with cardiomyopathies from St. Petersburg. Mutations H90N, V30M, G47A, and deletion (del9) of nucleotides GACTTCTCC in position 6776 from the start codon of the TTP gene (in position 98782 according to reference sequence AC079096 (NCBI) was found. The H90N mutation in the third exon of TTP gene was detected in a son of a cardiomyopathy patient and in his mother, which lacked any clinical manifestations. Mutations V30M and G47A in exon 2 of TTP gene were found in heterozygous and homozygous state, respectively, in one of the probands. Deletion (del9) was revealed in a patient with cardiomyopathy and in his two daughters from different marriages, who had no clinical manifestations of the disease. All the mutations revealed in this study were previously identified in other populations.
authors.forename: K V
authors.initials: KV
authors.lastname: Solov'ev
authors.forename: N A
authors.initials: NA
authors.lastname: Grudinina
authors.forename: E N
authors.initials: EN
authors.lastname: Semernin
authors.forename: I V
authors.initials: IV
authors.lastname: Morozova
authors.forename: S A
authors.initials: SA
authors.lastname: Smirnova
authors.forename: D S
authors.initials: DS
authors.lastname: Poliakov
authors.forename: T D
authors.initials: TD
authors.lastname: Aleĭnikova
authors.forename: E V
authors.initials: EV
authors.lastname: Shliakhto
authors.forename: A Ya
authors.initials: AY
authors.lastname: Gudkova
authors.forename: M M
authors.initials: MM
authors.lastname: Shavlovskiĭ
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D009202:Cardiomyopathies / Q000235:genetics*; D005091:Exons; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D011228:Prealbumin / Q000235:genetics*; D012426:Russia; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: D011228:Prealbumin