Author/Authors :
RAZIPOUR, Masoumeh Dept. of Medical Genetics - School of Medicine - Tehran University of Medical Sciences, Tehran , ALAVINEJAD, Elaheh Dept. of Medical Genetics - School of Medicine - Tehran University of Medical Sciences, Tehran , MOHAJER, Neda Dept. of Medical Genetics - School of Medicine - Tehran University of Medical Sciences, Tehran , TALEBI, Saeed Dept. of Medical Genetics - School of Medicine - Tehran University of Medical Sciences, Tehran , KE-RAMATIPOUR, Mohammad Dept. of Medical Genetics - School of Medicine - Tehran University of Medical Sciences, Tehran , KOOSHAVAR, Daniz Dept. of Medical Genetics - School of Medicine - Tehran University of Medical Sciences, Tehran , SAJEDI, Zahra Immunology Research Center - Tabriz University of Medical Sciences, Tabriz , SETOODEH, Aria Dept. of Endocrinology - Children’s Hospital Medical Center - Tehran University of Medical Sciences, Tehran
Abstract :
Phenylketonuria (PKU) is an inborn error of amino acid metabolism with an autosomal recessive inheritance caused in most cases by mutations in the phenylalanine hydroxylase (PAH) gene. PKU has wide allelic heterogeneity. Here we report a novel heterozygous substitution (c.1223G>T (p.Arg408Leu)) in the PAH gene in an Iranian PKU family. The patient was 19-yr-old female with diagnosis of moderate PKU referred to Department of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran for genetic counseling/analysis in April 2015. We used PCR-Sequencing to identify any sequence variations in the PAH gene.
