title: The spectrum of phenylketonuria genotypes in the Armenian population: identification of three novel mutant PAH alleles.
abstract: We present the spectrum of phenylalanine hydroxylase (PAH) gene mutations upon investigating 35 index patients identified with hyperphenylalaninemia in Armenia. One patient was diagnosed with dihydropteridine reductase (DHPR) deficiency, whereas all other 34 and their 6 affected siblings presented with mild or classical phenylketonuria (PKU). By analyzing all 13 exons plus exon-intron boundaries of the PAH gene, we identified two mutant alleles in 23 PKU patients, three mutations in 1, only one mutation in 5, and no mutation in 5 PKU patients. The most prevalent mutation was the well defined splicing error in intron 10, c.1066-11G>A (17/68 alleles). The three alterations, c.836C>T (p.Pro279Leu) in exon 7, c.1129T>G (p.Tyr377Asp) in exon 11, and c.1244A>T (p.Asp415Val) in exon 12, have not been reported in the PAH locus database (http://www.pahdb.mcgill.ca) and, thus, might be specific for the culturally homogenous Armenian population.
authors: Republic Center of Medical Genetics, Yerevan State Medical University, Armenia.
authors: Natella
authors: N
authors: Kostandyan
authors: Corinne
authors: C
authors: Britschgi
authors: Albert
authors: A
authors: Matevosyan
authors: Alvina
authors: A
authors: Oganezova
authors: Anahit
authors: A
authors: Davtyan
authors: Nenad
authors: N
authors: Blau
authors: Beat
authors: B
authors: Steinmann
authors: Beat
authors: B
authors: Thöny
mesh_terms: D000483:Alleles; D001136:Armenia; D005838:Genotype; D006801:Humans; D050505:Mutant Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000201:enzymology* / Q000235:genetics*
chemical_list: D050505:Mutant Proteins; D010651:Phenylalanine Hydroxylase