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A novel homozygous mutation causing hereditary tyrosinemia type I in yakut patient in russia: case report. 2016

Nadezda R Maksimova, and Elizaveta E Gurinova, and Aitalina L Sukhomyasova, and Anastasia L Danilova, and Vladimir S Kaimonov, and Mira T Savvina, and Aleksandra E Yakovleva, and Elena I Alekseeva
Federal State Autonomous Educational Institution Of Higher Professional Education "North-Eastern Federal University Named M.K. Ammosov", Yakutsk, nogan@yandex.ru.

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%.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D004252 DNA Mutational Analysis Biochemical identification of mutational changes in a nucleotide sequence. Mutational Analysis, DNA,Analysis, DNA Mutational,Analyses, DNA Mutational,DNA Mutational Analyses,Mutational Analyses, DNA
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D006867 Hydrolases Any member of the class of enzymes that catalyze the cleavage of the substrate and the addition of water to the resulting molecules, e.g., ESTERASES, glycosidases (GLYCOSIDE HYDROLASES), lipases, NUCLEOTIDASES, peptidases (PEPTIDE HYDROLASES), and phosphatases (PHOSPHORIC MONOESTER HYDROLASES). EC 3. Hydrolase
D012426 Russia A country located in north Asia bordering the Arctic Ocean, extending from Europe (the portion west of the Urals) to the North Pacific Ocean. The capital is Moscow. Russian S.F.S.R.,Russian Federation (Europe),Russian SFSR
D020176 Tyrosinemias A group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency. Type I tyrosinemia features episodic weakness, self-mutilation, hepatic necrosis, renal tubular injury, and seizures and is caused by a deficiency of the enzyme fumarylacetoacetase. Type II tyrosinemia features INTELLECTUAL DISABILITY, painful corneal ulcers, and keratoses of the palms and plantar surfaces and is caused by a deficiency of the enzyme TYROSINE TRANSAMINASE. Type III tyrosinemia features INTELLECTUAL DISABILITY and is caused by a deficiency of the enzyme 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE. (Menkes, Textbook of Child Neurology, 5th ed, pp42-3) 4 Hydroxyphenylpyruvate Dioxygenase Deficiency Disease,Fumarylacetoacetase Deficiency Disease,Tyrosine Transaminase Deficiency Disease,4-Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease,4-Hydroxyphenylpyruvate Dioxygenase Deficiency,4-Hydroxyphenylpyruvic Acid Oxidase Deficiency,Deficiency Disease, 4-Hydroxyphenol Pyruvic Acid Oxidase,Deficiency Disease, Fumarylacetoacetase,Deficiency Disease, Tyrosine Transaminase,Fumarylacetoacetase Deficiency,Hepatorenal Tyrosinemia,Hereditary Tyrosinemia, Type I,Hereditary Tyrosinemia, Type II,Hereditary Tyrosinemia, Type III,Hereditary Tyrosinemias,Hypertyrosinemia,Hypertyrosinemia, Type I,Keratosis Palmoplantaris with Corneal Dystrophy,Oregon Type Tyrosinemia,Richner-Hanhart Syndrome,Richner-Hanhart Syndrome, Tyrosinosis, Oculocutaneous Type,Tat Deficiency,Tyrosine Aminotransferase Deficiency,Tyrosine Transaminase Deficiency,Tyrosinemia,Tyrosinemia Type 1,Tyrosinemia, Type 2,Tyrosinemia, Type I,Tyrosinemia, Type II,Tyrosinemia, Type III,Tyrosinemias, Hereditary,Tyrosinosis, Oculocutaneous Type,2 Tyrosinemias, Type,4 Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease,Deficiencies, 4-Hydroxyphenylpyruvate Dioxygenase,Deficiencies, Fumarylacetoacetase,Deficiencies, Tat,Deficiency Disease, 4 Hydroxyphenol Pyruvic Acid Oxidase,Deficiency Diseases, Fumarylacetoacetase,Deficiency, 4-Hydroxyphenylpyruvate Dioxygenase,Deficiency, Fumarylacetoacetase,Deficiency, Tat,Dioxygenase Deficiencies, 4-Hydroxyphenylpyruvate,Dioxygenase Deficiency, 4-Hydroxyphenylpyruvate,Disease, Fumarylacetoacetase Deficiency,Diseases, Fumarylacetoacetase Deficiency,Fumarylacetoacetase Deficiencies,Fumarylacetoacetase Deficiency Diseases,Hepatorenal Tyrosinemias,Hereditary Tyrosinemia,Hypertyrosinemias, Type I,Oculocutaneous Type Tyrosinoses,Oculocutaneous Type Tyrosinosis,Richner Hanhart Syndrome,Richner-Hanhart Syndromes,Syndrome, Richner-Hanhart,Syndromes, Richner-Hanhart,Tat Deficiencies,Type 2 Tyrosinemia,Type 2 Tyrosinemias,Type I Hypertyrosinemia,Type I Hypertyrosinemias,Type I Tyrosinemia,Type I Tyrosinemias,Type II Tyrosinemia,Type II Tyrosinemias,Type III Tyrosinemia,Type III Tyrosinemias,Type Tyrosinoses, Oculocutaneous,Type Tyrosinosis, Oculocutaneous,Tyrosinemia Type 1s,Tyrosinemia, Hepatorenal,Tyrosinemia, Hereditary,Tyrosinemias, Hepatorenal,Tyrosinemias, Type 2,Tyrosinemias, Type I,Tyrosinemias, Type II,Tyrosinemias, Type III,Tyrosinoses, Oculocutaneous Type

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