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Updated: Mar 21, 2026
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
First Case Report of EX3del4765 Mutation in PAH Gene in Asian Population
Ziba Soltani1, Fatemeh Karami2, Vahidreza Yassaee1
1Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran.
Introduction:
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%).
Case Presentation:
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.
