文章基本信息

标题：Identification of a Novel Mutation in the PAH Gene in an Iranian Phenylketonuria Family: A Case Report
其他标题：Identification of a Novel Mutation in the PAH Gene in an Iranian Phenylketonuria Family: A Case Report
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作者：Masoumeh RAZIPOUR ; Daniz KOOSHAVAR ; Elaheh ALAVINEJAD 等
期刊名称：Iranian Journal of Public Health
印刷版ISSN：2251-6085
电子版ISSN：2251-6093
出版年度：2017
卷号：46
期号：4
页码：560-564
语种：English
出版社：Tehran University of Medical Sciences
摘要：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.
关键词：Phenylketonurias; Phenylalanine hydroxylase; Mutation analysis; Iran