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Identification of a Novel Mutation in the Pah Gene in an Iranian Phenylketonuria Family: A Case Report



Razipour M1 ; Kooshavar D1 ; Alavinejad E1 ; Sajedi SZ2, 3 ; Mohajer N1 ; Setoodeh A4 ; Talebi S1 ; Keramatipour M1
Authors

Source: Iranian Journal of Public Health Published:2017

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. © 2017, Iranian Journal of Public Health. All rights reserved.
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