title: First Case Report of EX3del4765 Mutation in PAH Gene in Asian Population.
abstract: BACKGROUND
  Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism, which is caused by mutation in phenylalanine hydroxylase (PAH) gene. Most of the PAH mutations are missense mutations (67%), which are followed by small or large deletions (13%).
  
  
  METHODS
  We reported a patient with classic PKU and his parents harboring a large deletion in exon 3 (EX3del4765) of PAH gene. This is the first case report of EX3del4765 in Asian patients with PKU.
  
  
  CONCLUSIONS
  This finding may help improve early detection, differential diagnosis, genetic counseling, and even treatment of patients with PKU.
authors.affiliation: Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran.
authors.forename: Ziba
authors.initials: Z
authors.lastname: Soltani
authors.affiliation: Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, IR Iran.
authors.forename: Fatemeh
authors.initials: F
authors.lastname: Karami
authors.affiliation: Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran.
authors.forename: Vahidreza
authors.initials: V
authors.lastname: Yassaee
authors.affiliation: Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran.
authors.forename: Feyzollah
authors.initials: F
authors.lastname: Hashemi Gorji
authors.affiliation: Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran.
authors.forename: Mahdieh
authors.initials: M
authors.lastname: Talebzadeh
authors.affiliation: Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran.
authors.forename: Mohammad
authors.initials: M
authors.lastname: Miryounesi
keywords: Gene Deletion; Phenylalanine Hydroxylase; Phenylketonuria