title: A novel homozygous mutation causing hereditary tyrosinemia type I in yakut patient in russia: case report.
abstract: BACKGROUND
  Tyrosinemia type 1 (HT1) (OM IM 276700) is an inborn error of tyrosine catabolism caused be fumarylacetoacetate hedralase deficiency (FAH). In tyrosinemia type I, dietary therapy and nitisinone (Orfandin®), liver transplantation are effective .
  
  
  OBJECTIVE
  We present here the first report on identification of FAH mutation in HT1 Yakut patient from Russia with a novel one.
  
  
  METHODS
  The material for the clinical study is based on the genetic data of the patient card with tyrosinemia type 1, which is observed in the medical-genetic consultations Republican Hospital №1-National Medical Center of the Republic of Sakha (Yakutia). For molecular genetic analysis has been used venous whole blood, taken with the written consent from the patient, his relatives and 200 healthy Yakuts. All regions of the FAH gene spanning exons were amplified by PCR and mutational analyses was carried out by direct sequencing. Results of sequencing were confirmed by restriction fragment length polymorphism (PCR-RELF) analyses.
  
  
  RESULTS
  1 one-year-old child was identified with a diagnosis hereditary tyrosinemia type Ia, acute form. In exon 13 of the FAH gene a novel mutation c.1090 G>C (GLu364GLn) in the homozygous state was found in patient, and in heterozygous state in both parents. The child is treated Nitisinone therapy. DNA diagnostics of c.1090 G>C mutation frequency in the FAH gene was conducted using PCR and RFLP analysis in 200 unrelated Yakuts. The frequency of heterozygous carrier was 1.0%.
authors.affiliation: Federal State Autonomous Educational Institution Of Higher Professional Education "North-Eastern Federal University Named M.K. Ammosov", Yakutsk, nogan@yandex.ru.
authors.forename: Nadezda R
authors.initials: NR
authors.lastname: Maksimova
authors.affiliation: State Budget Organization Of The Republic Of Sakha (Yakutia) "Republican Hospital No. 1 - National Center Of Medicine", Yakutsk.
authors.forename: Elizaveta E
authors.initials: EE
authors.lastname: Gurinova
authors.affiliation: State Budget Organization Of The Republic Of Sakha (Yakutia) "Republican Hospital No. 1 - National Center Of Medicine", Yakutsk.
authors.forename: Aitalina L
authors.initials: AL
authors.lastname: Sukhomyasova
authors.affiliation: Federal State Autonomous Educational Institution Of Higher Professional Education "North-Eastern Federal University Named M.K. Ammosov", Yakutsk.
authors.forename: Anastasia L
authors.initials: AL
authors.lastname: Danilova
authors.affiliation: Federal State Autonomous Educational Institution Of Higher Professional Education "North-Eastern Federal University Named M.K. Ammosov", Yakutsk.
authors.forename: Vladimir S
authors.initials: VS
authors.lastname: Kaimonov
authors.affiliation: Federal State Autonomous Educational Institution Of Higher Professional Education "North-Eastern Federal University Named M.K. Ammosov", Yakutsk.
authors.forename: Mira T
authors.initials: MT
authors.lastname: Savvina
authors.affiliation: Federal State Autonomous Educational Institution Of Higher Professional Education "North-Eastern Federal University Named M.K. Ammosov", Yakutsk.
authors.forename: Aleksandra E
authors.initials: AE
authors.lastname: Yakovleva
authors.affiliation: Federal State Autonomous Educational Institution Of Higher Professional Education "North-Eastern Federal University Named M.K. Ammosov", Yakutsk.
authors.forename: Elena I
authors.initials: EI
authors.lastname: Alekseeva
mesh_terms: D004252:DNA Mutational Analysis; D006801:Humans; D006867:Hydrolases / Q000235:genetics*; D007223:Infant; D009154:Mutation; D012426:Russia; D020176:Tyrosinemias / Q000235:genetics*
chemical_list: D006867:Hydrolases; C020156:fumarylacetoacetase
keywords: FAH; Yakuts; orphan diseases; tyrosinemia type 1